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Adenosquamous proliferation (ASP), characterised by ductal structures with a dual glandular and squamous phenotype within desmoplastic stroma, is essentially a hallmark of various sclerosing lesions of the breast (SL) and breast lesions with sclerosis (BLWS), not including sclerosing adenosis. In radial scar/complex sclerosing lesion (RS/CSL), clonality has been previously demonstrated in microdissected ASP. SL/BLWS encompass a diverse range of pathological entities that historically have an equally diverse list of names, often for histologically alike or identical lesions at different anatomical locations. In common they are comprised of one or more components of fibrocystic or proliferative breast disease and papillomata, which become distorted and even obliterated by a sclerosing process that appears to be associated with and/or secondary to ASP, which in an individual lesion may be inconspicuous at the time of biopsy. The histological overlap of various SL/BLWS with RS/CSL, in which a nidus containing ASP is pathognomonic of early lesions, also supports a common element of ASP across various SL/BLWS. SL/BLWS show an interesting association with low-grade metaplastic carcinoma, particularly low-grade adenosquamous carcinoma (LGASC) with which, they appear to form a histological and possible biological spectrum because ASP and LGASC share similar histological and immunophenotypical characteristics. The presentation of ASP in various SL/BLWS will be discussed.

Neuralgic amyotrophy (NA), also known as Parsonage-Turner syndrome, is characterised by sudden pain attacks, followed by patchy muscle paresis in the upper extremity. Recent reports have shown that incidence is much higher than previously assumed and that the majority of patients never achieve full recovery. Traditionally, the diagnosis was mainly based on clinical observations and treatment options were confined to application of corticosteroids and symptomatic management, without proven positive effects on long-term outcomes. These views, however, have been challenged in the last years. Improved imaging methods in MRI and high-resolution ultrasound have led to the identification of structural peripheral nerve pathologies in NA, most notably hourglass-like constrictions. These pathognomonic findings have paved the way for more accurate diagnosis through high-resolution imaging. Furthermore, surgery has shown to improve clinical outcomes in such cases, indicating the viability of peripheral nerve surgery as a valuable treatment option in NA. In this review, we present an update on the current knowledge on this disease, including pathophysiology and clinical presentation, moving on to diagnostic and treatment paradigms with a focus on recent radiological findings and surgical reports. Finally, we present a surgical treatment algorithm to support clinical decision making, with the aim to encourage translation into day-to-day practice.

Juvenile dermatomyositis (JDM) is a rare systemic autoimmune vasculopathy characterised by weakness in proximal muscles and pathognomonic skin rashes.1 Clinically, some patients are refractory to any available treatments or became steroids dependent.2 The adverse reactions of long-term use of steroids are severe; therefore, more effective and safer medications are urgently needed. JAK inhibitors (JAKi) can reduce interferon (IFN)-induced STAT1 phosphorylation and block the JAK-STAT pathway, demonstrating a therapeutic potential of inflammation control in JDM.3 The successful uses of JAKi were reported in adult dermatomyositis (DM) and two patients with JDM.3–5 Here, we want to share the JAKi using experiences of 25 refractory JDM cases who were diagnosed and classified according to Bohan and Peter’s criteria and treated between November 2017 and May 2019. Written informed consents were obtained from the guardians of all patients before starting the treatment. Among 25 cases, 44% (11/25) patients were female, the mean age of onset was 4.6±3.3 years and the mean age to start add-on JAKi treatment was 7.2±4.0 years. The mean disease course of the 25 JDM patients before JAKi treatment is 21.0 months (range: 14.0–36.5). All cases are refractory JDMs, including 32% (8/25) ineffective patients and 68% (17/25) glucocorticoid-dependent cases. After routine treatment fails, they received …

AimsThe goal was to find if changes in Fabry keratopathy were clinically observable over time. Also observed were variations of Fabry keratopathy, supplemental features, unique presentations and differences between keratopathies of right and left corneas and the same family and genotype.MethodsBiomicroscopic images of Fabry keratopathy in 10 persons with classic Fabry disease, 5 men and 5 women, were captured over an 18-month period. The keratopathies were categorised and scrutinised for changes over time, and differences between corneas of the same individual, family and genotype.ResultsFabry keratopathy ranged from mild change to marked change over 18 months. There was a great variety of whorl patterns. A few keratopathies were amorphous without vortices and many vortices were supplemented with amorphous features. All keratopathies were accompanied by diffuse epithelial haze. There was a range from negligible difference to marked difference between right and left eyes of the same individuals with similarities appearing as imprecise mirror images of each other. In some corneas, prominent vertical streams from the superior limbus integrated into the primary keratopathy. Comparisons between persons with the same family and genotype were obscured by gender and differences between right and left eyes.ConclusionsPractitioners should be better able to detect Fabry disease having a fuller understanding of the variety of presentations of the dynamic, pathognomonic Fabry keratopathy. Routes of continuous centripetal renewal of corneal epithelium are spatially unique to each eye, in some cases subsidised by direct contribution of basal cells streamed from the superior limbus.

AimsTo review the distribution of pathology in extraocular muscle (EOM) biopsies performed at a tertiary orbital centre, identify clinical and imaging features which are associated with benign or malignant diseases and indicate when biopsy is necessary for EOM enlargement.MethodsRetrospective case series including 93 patients with EOM enlargement who underwent an EOM biopsy. Clinical, radiological and histopathological information was recorded from the medical records. Statistical analysis was used to compare variables between patients with malignant and benign biopsies.ResultsThe median age of subjects was 61.1 years. Forty-eight cases (52%) were benign and 45 (48%) were malignant. Those with malignant pathology were significantly older (PConclusionsBiopsy is warranted in those with an atypical presentation of EOM enlargement or suspected of having a malignancy. Some features such as age, gender, pain, diplopia, history of malignancy and eyelid erythema may help indicate a particular diagnosis; however, clinical features and imaging findings are often not pathognomonic of each disease.

A 7-year-old girl born to consanguineous parents, had recurrent erythroderma since birth; she presented with intractable pruritus, scaling, dry skin and eczematous lesions, associated to fingers and toes onychogryphosis, along with refractory otitis. The hair was sparse and brittle, the simple light microscopic examination of hair shaft revealed a pathognomonic Bamboo aspect (trichorrehxis invaginata) and ear swab culture revealedCandida parapsilosisas otitis agent. Due to the lack of genetic routine testing, children with recalcitrant erythroderma and otitis, along with hair shaft abnormalities, need to be evaluated for Netherton syndrome.

Neurofibromatosis type I is a common autosomal dominant inherited disorder of neural crest origin, affecting 1 in 3000 people.1 Plexiform neurofibromas, benign peripheral nerve sheath tumours, are considered pathognomonic of neurofibromatosis type I. Pelvic involvement is uncommon and is associated with considerable morbidity.1 A 29-year-old man reported 8 years of progressively increasing left hemiscrotal and gluteal swelling. He had noticed numbness over the penis and scrotum, difficulties with ejaculation and experiencing an orgasm, and perineal pain particularly when trying to ejaculate. He could achieve an erection and had preserved sexual drive, and no bladder or bowel symptoms. He took gabapentin and had never used serotonin-selective reuptake inhibitors. There was no family history of neurofibromatosis type I. General examination was normal with no other cutaneous manifestations of neurofibromatosis type I, suggesting a …

Background:The lack of pathognomonic features poses a considerable challenge in SLE diagnosis. The time from symptom onset to diagnosis has been reported to range from two to six years1.Objectives:To document the initial symptoms of the disease and the time lapse until its diagnosis.Methods:We examined 438 patients from the “Attikon” SLE cohort2. For diagnosis, we used the classification criteria (ACR, SLICC, EULAR-ACR) or in few cases clinical diagnosis (n=32, 7.3%). Data were collected using patient interviews, in-person clinical visits and medical charts review. Initial symptoms were recorded and determined chronologically using prespecified forms with a list of typical manifestations (skin, joints, renal, nervous system, pleuropulmonary, cardiovascular, anti-phospholipid syndrome) as well as characteristic disease features (Raynaud’s phenomenon, fatigue, fever, sicca symptoms). Questions also included the time between symptom onset and initial physician visit, the time from first medical consultation until first rheumatologist assessment, the time from rheumatologist assessment to SLE definite diagnosis, the number of physicians seen before SLE diagnosis, the specialty of first physician and of diagnosing physician. Information on demographic and clinical characteristics, disease activity and disease damage, was collected both at enrolment and at last follow-up visit.Results:88.5% of patients were females, mean (±SD) age at diagnosis was 41.9 years ± 15.4 and disease duration was 6.7 ± 7 years. Most common systems involved were joints (94.5%), skin (73.7%), blood (39.2%) and renal (17.5%). At diagnosis, 9.8% of patients were ANA negative. The most common initial symptoms at disease onset were arthritis/arthralgia (74.4%), followed by fatigue (53.1%) and photosensitive rash (50.9%) (Table 1). Among non-criteria features, Raynaud’s phenomenon was reported by 146 patients (33.3%) prior the diagnosis. The median interval between symptoms onset and the SLE diagnosis was 16 months (IQR 5-60). SLE was diagnosed earlier in ANA-positive than -negative patients [median time 14 months (IQR 5-60) vs 36 months (IQR 10.5-84); P=0.1, t-test]. Approximately half of the patients (52.5%) were diagnosed after 12 months from disease onset with only 15.9% diagnosed within 3 months of symptoms presentation. The median lag time between onset of symptoms and the first medical consultation was 2 months (IQR 1-12). Internists were the most common first consultants (27.8%) followed by orthopedists (15.9%), dermatologists (13.6%) and rheumatologists (13.4%). The median interval between the first medical assessment and first rheumatologist evaluation was 3 months (IQR 0-11.5) while the median time from rheumatologist assessment to definite diagnosis was 0 months (IQR 0-4). SLE patients consulted an average of 3 different physicians before the definite diagnosis, which in 95.8% was established by rheumatologists.Conclusion:Approximately 50% of patients were diagnosed with SLE after 12 months from symptom onset with a mean time from symptoms to definite diagnosis almost 4 years. Increasing awareness of internists to SLE and avoidance of strict adherence to ANA as a requirement for diagnosis may improve early diagnosis.Table 1.Initial symptoms prior to diagnosisSymptomsN=438 (%)Duration*(mean months ±SD)Arthralgias326 (74.4)37.5 ±69.4Photosensitive rash223 (50.9)30.6 ±70.2Malar rash168 (38.3)22.6 ±62Alopecia167 (38.1)19.6 ±54.6Ulcers106 (24.2)16.8 ±54.4Fever103 (23.5)9.3 ±43.8Raynaud’s phenomenon146 (33.3)22.3 ±68.5Fatigue233 (53.1)19.7 ±45.7*Mean time from symptom onset to established diagnosisReferences:[1]Nightingale AL, Davidson JE, Molta CT et al. Lupus Science & Medicine 2017; doi:10.1136/lupus-2016-000172.[2]D Nikolopoulos et al. Lupus 2020; doi: 10.1177/0961203320908932.Acknowledgements:This project has received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme (grant agreement No 742390)Disclosure of Interests:None declared

An 86-year-old woman was referred to the otolaryngology clinic for a 1-year history of a painless, slow-growing neck mass. Physical examination showed a fixed, immobile right level II neck mass with normal vocal cord movement. MRI demonstrated a lobulated mass laterally displacing the carotid vessels, consistent with a schwannoma. Despite the pathognomonic radiographic findings for schwannoma, core needle biopsy of the mass was consistent with intramuscular myxoma (IM), which rarely presents in the head and neck region. After multiple years of slow growth with bulging into the pharynx, the patient ultimately underwent surgery to reduce the risk of airway compromise. The location of this IM together with its unusual imaging appearance is a unique finding in the head and neck and adds to the differential diagnoses for neck masses displacing the carotid sheath.

Background:Acute Rheumatic Fever (ARF) is an immunomediated multisystem disease that occurs about 2-5 weeks after Group A Streptococcus Pyogenes beta-hemolytic (GAS) pharyngitis. After a negative peak in the 1980s, following the introduction of antibiotic prophylaxis, the disease is currently recovering. Rheumatic carditis is one of the most worrying aspects as it is still one of the major causes of cardiovascular death in the young-adult population. However, if diagnosed early and treated, sequelae with aortic and mitral valve involvement can be prevented.Objectives:The aim of our study is a description of Acute Rheumatic Fever in all its manifestations in a cohort of pediatric patients belonging to the Azienda Ospedaliera Universitaria Integrata of Verona.Methods:A retrospective analysis was conducted collecting all the cases of ARF, diagnosed by Jones’s criteria, related to Pediatric Rheumatology and Pediatric Cardiology of Verona from January 2005 to December 2019. Demographic and clinical data were collected for all patients such as clinical presentation, disease evolution and cardiac involvement.Results:73 patients were analyzed, of whom 53 had an acute onset of ARF and 20 received a diagnosis of previous ARF due to indolent carditis. The prevalent age at the time of diagnosis in both groups was between 5 and 14 years of age. Among patients with acute onset, carditis was the most frequent major manifestation (94.3%), followed by polyarthritis (41.5%), chorea (24.5%) and erythema marginatum (7.5%). Only in one patient we could observe subcutaneous nodules (1.8%). Regarding the minor manifestations, the increase in inflammation markers was present in 83% of cases and fever was present in 75.5%, followed by arthralgia (58.4%) and prolonged of PR interval to ECG (9.4%). Carditis was also present in all 13 patients who presented chorea. Clinically, previously unknown heart murmur occurred in 28 patients. Therefore, the mismatch between cardiac objectivity and carditis finding is clear: infact, compared to an important finding of carditis (50 patients) only slightly more than half of the patients (28 patients) showed an evident clinic finding. Finally, no correlation was found between the levels of the antistreptolysin O titer and the severity of heart damage. Patients with early diagnosis of carditis were treated at onset with corticosteroid therapy according to the American Heart Association scheme and did not show valvular cardiac outcomes. A patient who received a late diagnosis of carditis currently presents a significant and permanent cardiac damage despite adequate steroid treatment undertaken at the time of diagnosis.Conclusion:The description of this cohort of pediatric patients shows that the ARF has not disappeared in industrialized countries. Treatment of streptococcal infection (primary prophylaxis) plays a key role in preventing ARF. Of great impact is the prevalence of carditis which is present in 94.3% of patients. Early diagnosis is therefore of primary importance and the subsequent follow-up path, consisting of periodic therapy with penicillin (secondary prophylaxis) and periodic cardiological checks, greatly affects children’s quality of life. Chorea, unlike what has been described in the literature, occurred simultaneously with the cardiac process, while the cutaneous manifestations (subcutaneous nodules and erythema marginatum), once pathognomonic of the rheumatic disease, are today of rare observation.References:[1]Carapetis, Beaton, Cunningham et al. Acute rheumatic fever and rheumatic heart disease. Nature Reviews Disease Primers. 2016;2:15084.Disclosure of Interests:None declared

Background:Behçet’s disease (BD) is a systemic, chronic, relapsing vasculitis with no pathognomonic diagnostic test. The most widely used classification criteria are those of the International Study Group (ISG) for BD (1). These criteria were repeatedly found to have low sensitivity. Therefore, the International Criteria for Behçet’s Disease (ICBD) were published in 2014 (2).Objectives:To compare the ISG with ICBD diagnostic criteria for BD.Methods:The study included all consecutive 111 patients diagnosed with definitive or possible BD by expert rheumatologists. They were diagnosed at a well-defined population in Northern Spain between 1980 and 2019. The ISG and ICBD diagnostic criteria for BD were applied to and compared among all patients.Results:We studied 111 patients (62 Women/49 Men), mean age 36.8±13.2 years. BD was diagnosed in 65 (58.5%) by ISGBD criteria and in 86 (77.5%) by ICBD criteria. No significant differences were observed between both criteria (p < 0.001). The overall concordance was fair (Kappa 0.3; p(TABLE-1)Conclusion:ICBD criteria exhibit higher sensitivity than ISG criteria. Thus, the application of these new criteria can achieve a more correct and earlier diagnosis of BD.References:[1]Criteria for diagnosis of Behcet’s disease, International Study Group for Behçet’s Disease,The Lancet, Volume 335, Issue 8697, 1078 – 1080[2]The International Criteria for Behçet’s Disease (ICBD): a collaborative study of 27 countries on the sensitivity and specificity of the new criteria, J Eur Acad Dermatol Venereol. 2014; 28:338-47TABLE 1Expert diagnosis (N=111)ISG criteria -(N=65)ICBD criteria (N=86)Age, mean (SD)36.7 (13.2)36 (12.8)36.7 (13)Gender, men/women, N (%)49/62 (44.1/55.8)29/36 (44.6/55.4)38/48 (44.2/55.8)Oral aphthosis110 (99)65 (100)85 (100) -Recurrent (3 times/year)91 (87.2)61 (93.8)74 (86)Genital aphthosis59 (53.1)42 (64.6)56 (65.1)Skin manifestations76 (68.4)56 (86.15)71 (70.9) -Pseudofolliculitis/ Erythema nodosum51 (67.1)/ 27 (35.5)38 (58.5)/ 21 (32.3)42 (68.8)/ 22 (36.1)Ocular lesions39 (35.1)32 (49.2)39 (45.3) -Anterior/ Posterior/ Panuveitis17 (43.6);12 (30.8)/ 016 (50)/ 8(25)/ 7 (21.9)17 (45.6); 0; 12 (30.8) -Retinal vasculitis4 (10.3)1 (3.1)4 (10.6)Joint manifestations76 (68.5)43 (66.1)58 (67.4) -Arthralgias / Arthritis69 (92.8)/ 45 (60)39 (90.7)/ 24 (55.8)52 (89.6)/ 33 (56.9)Neurological manifestations20 (18)11 (16.9)16 (18.6) -Peripheral / Central11 (55)/ 14 (70)7 (63.6)/ 7 (63.6)12 (75)/ 10 (62.5)Vascular manifestations9 (8.6)7 (10.8)10 (11.6) -Arterial/ Vein thrombosis/ Phlebitis0/ 5 (55)/ 1 (11.1)0/ 4 (57.1)/ 1 (14.3)1 (12.5)/ 5 (62.5)/0Gastrointestinal features4 (4.5)4 (6.1)4 (4.6)Pathergy test positive (available data; %)6 (28; 21.4)4 (19; 21)4 (25, 16)HLA B51 positive (available data; %)38 (86; 44.2)19 (47; 40.4)28 (63; 44.4)Disclosure of Interests:Carmen Alvarez Reguera: None declared, Alba Herrero Morant: None declared, Lara Sanchez Bilbao: None declared, David Martínez-López: None declared, José Luis Martín-Varillas Grant/research support from: AbbVie, Pfizer, Janssen and Celgene, Speakers bureau: Pfizer and Lilly, Guillermo Suárez Amorín: None declared, Patricia Setien Preciados: None declared, M. Cristina Mata Arnaiz: None declared, Miguel Á. González-Gay Grant/research support from: AbbVie, MSD and Roche, Speakers bureau: AbbVie, MSD and Roche, Ricardo Blanco Grant/research support from: Abbvie, MSD and Roche, Consultant of: Abbvie, Pfizer, Roche, Bristol-Myers, Janssen and MSD, Speakers bureau: Abbvie, Pfizer, Roche, Bristol-Myers, Janssen, Lilly and MSD

Macroscopic fat inside an adrenal lesion on CT is pathognomonic for myelolipoma, a benign neoplasm. Without macroscopic fat, it can be difficult to discern the nature of an indeterminate adrenal mass on imaging. One possible diagnosis for an indeterminate lesion without macroscopic fat is an adrenal oncocytic neoplasm (AON). Despite its typical benign presentation cases of malignant AON have been reported. Patients with malignant AON are often not surgical candidates and survival for unresected disease is 20%–35%. We present the third report of an AON of uncertain malignant potential (AONUMP) associated with a macroscopic fatty component with the largest reported size and longest duration of follow-up in the literature. This report details diagnostic and therapeutic challenges posed by AONUMP. This case highlights how pathognomonic radiographical findings associated with benign myelolipoma might mask rare, potentially malignant, lipomatous tumours.

An 80-year-old woman presented with a several-year history of progressive hair loss and scalp pruritus. No other rashes or muscle weakness were noted on examination. Scalp biopsy showed interface dermatitis, dense perivascular and periadnexal lymphocytic infiltrate, mucin and scarring alopecia. Laboratory analysis did not show evidence of myositis. The patient was started on hydroxychloroquine for possible cutaneous lupus erythematosus. On follow-up, she presented with a new violaceous rash on the superior eyelids and a well-defined oval patch on the mid-hard palate suspicious for dermatomyositis. Myositis-specific autoantibodies revealed presence of anti-transcriptional intermediary factor-1γ (anti-TIF1γ) in the serum. Anti-TIF1γ autoantibody-positive dermatomyositis is a newly recognised subtype of dermatomyositis that is highly associated with amyopathic disease and has an increased risk of malignancy, making prompt diagnosis crucial. This case highlights the utility of a thorough oral exam in patients suspected to have connective tissue disease as the distinctive ovoid palatal patch is nearly pathognomonic for anti-TIF1γ dermatomyositis.

Hamman’s sign refers to an unusual click that occurs in synchrony with heart sounds, and is pathognomonic for left-sided pneumothorax and spontaneous mediastinum. In this case, a 17-year-old man living in a rural area used his smartphone to record an audible clicking sound emanating from his thorax. This occurred following coughing episodes secondary to an upper respiratory tract infection. Initially, this prompted a request for an echocardiogram to exclude structural cardiac anomalies; however, Hamman’s sign was also considered. This facilitated the timely diagnosis of pneumothorax to be made via a simple chest radiograph, one of the only imaging modalities available at the patient’s rural health service. To promote awareness of this rare clinical phenomenon, this report also presents the patient’s own sound recording of Hamman’s sign and corresponding chest radiographs.

While neuroleptic malignant syndrome (NMS) is typically characterised by delirium, motor rigidity, fever and dysautonomia, the syndrome is not pathognomonic, and NMS remains a diagnosis of exclusion. Here, we describe the case of a 44-year-old woman, with no relevant psychiatric history, admitted to a nephrology unit due to acute renal failure. After administration of antipsychotics, she presented with mental status alteration, generalised tremor, rigidity and autonomic nervous system dysfunction. Fever and rhabdomyolysis, however, were not prominent, and NMS was not considered initially in the differential diagnosis. The resulting delay in diagnosis, with continued administration of antipsychotics, led to progressive clinical deterioration. Once NMS was considered, however, antipsychotics were withdrawn and the patient was treated with electroconvulsive therapy (ECT), followed by administration of a dopamine receptor agonist, with close to full remission of all symptoms. Importantly, during outpatient follow-up, sustained mild and asymmetric tremor and rigidity was noted, leading to a diagnosis of Parkinson’s disease. While this raises questions regarding differential diagnosis between NMS in Parkinson’s disease, versus worsening of Parkinson’s disease due to antipsychotic treatment, the former is supported by the acute and rapidly progressive onset of exuberant autonomic dysfunction and clouded conscience, after administration of a neuroleptic. Ultimately, a definitive distinction between these two alternatives for diagnosis of the inaugural neurological presentation in this patient is not possible. Nevertheless, we believe this case illustrates that NMS can be easily missed, particularly in atypical cases, delaying appropriate treatment, and that a flexible multimodal treatment approach, involving ECT, should be considered for complex clinical cases. Furthermore, it also underlines the importance of post-NMS follow-up, to investigate underlying neurological or medical disorders, particularly in those patients who do not have a full recovery.

ObjectivesCapillary haemangioma is a benign vascular tumour that typically arises from skin and mucosal surfaces at birth and in infants. Central nervous system (CNS) capillary haemangioma in adults is extremely rare. We describe a case of capillary haemangioma located within the parasellar region extending into the sella.DesignCase report.ResultsWe report a 64-year-old patient who presented with a short history of ptosis and left sided headaches. CT showed a 3 cm by 2.5 cm para-sellar lesion extending into the sella. MRI showed a homogenously hyperintense lesion on T2-weighted MRI and FLAIR, which was isointense with adjacent brain parenchyma on T1-weighted MRI. This lesion also demonstrated contrast enhancement. The patient underwent an initial endoscopic transsphenoidal biopsy, which was inconclusive, followed by a craniotomy and debulking. Histological examination revealed fibrous tissue containing numerous thin walled and irregular vascular channels of varying sizes. There was a mild associated inflammatory infiltrate, mainly formed of small mononuclear chronic inflammatory cells, and occasional histiocytes. The histological appearances were in keeping capillary haemangioma.ConclusionsThe present case describes a capillary haemangioma located in the sella. The rarity of this vascular entity and the absence of any pathognomonic imaging features make it difficult to diagnose based on radiological appearances alone. Although rare, CH should be a differential when considering a sella or parasellar lesion.

ObjectivesCharacteristics from a large systematic review.DesignThe first systematic review of benign notochordal cell tumours.SubjectsAll studies, in any language, published at any time, identified using specified search terms.MethodsPreferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA).ResultsSo-called benign notochordal cell tumours exhibited the following features: pain was the sole presenting symptom in 37/81 (45.7%) and neurological deficit in 36/81 (44.4%). Incidental discovery upon imaging was reported in 8/81 (9.9%). Radiologically, lesions were small, (≤30 millimetres at their maximum diameter) in 57/65 (87.7%), hypointense on T1 sequences and hyperintense on T2 sequences on magnetic resonance imaging (106/130; 81.5%), did not enhance following contrast administration (62/74; 83.8%) and were non-lytic (80/160; 50.0%). Histologically, these tumours lacked myxoid matrix (66/84; 78.6%) and nuclear atypia (100/112; 89.3%). In those managed conservatively, follow up was between 8.5 and 120 months. Most were stable at follow up (22/25; 88.0%), one lesion grew (4.0%), one patient died of an unrelated cause (4.0%) and outcome was not stated in one case (4.0%).ConclusionsBNCTs exhibit a spectrum of features, none of which are pathognomonic and diagnosis is subjective. The majority of reports describe small, non-progressive, non-lytic lesions that lack contrast enhancement, intercellular myxoid matrix and nuclear atypia. They are nevertheless difficult to distinguish from small chordomas.

Neuromyelitis optica spectrum disorder (NMOSD) is a devastating inflammatory disease of the central nervous system (CNS), thus, an early and accurate diagnosis is important.1 The aquaporin-4 (AQP4) antibody is a specific marker of NMOSD that has generally modest sensitivity but is not always available in time. The radiological characteristics, such as longitudinally extensive transverse myelitis (LETM), are helpful in the diagnosis, but LETM is not a pathognomonic feature of NMOSD. Therefore, it would be good to identify the other specific features associated with NMOSD. Bright spotty lesions (BSLs) on spinal MRIs have recently been identified as a discriminative feature that distinguishes NMOSD from multiple sclerosis (MS).2 However, previous study was conducted with a small number of patients and the timing of the MRIs was not controlled. Furthermore, it has not been investigated whether BSLs may help to discriminate NMOSD from other entities, such as idiopathic transverse myelitis (ITM), which share many similar features with NMOSD. Thus, the present study investigated whether BSLs can be utilised as a discriminative feature of NMOSD to distinguish it from MS and ITM in a large cohort of patients with myelitis, particularly during the acute phases. A total of 114 patients, who presented with acute myelitis and underwent spinal MRIs (≤3 weeks since the latest clinical attack), were enrolled from the National Cancer Centre registry of CNS idiopathic inflammatory diseases between 2005 and 2014. Of 114 patients, 59 patients with NMOSD were positive for AQP4 antibody, 31 patients met the McDonald criteria for MS and 24 patients fulfilled the criteria for ITM.3 All patients with MS and ITM were negative for AQP4 antibody following repeated assays of three different methods.4 Myelin-oligodendroglycoprotein (MOG) antibodies were also tested using a cell-based assay at Tohoku University and all patients were negative for MOG antibodies.4 …

Infiltrative cardiomyopathy can result from a wide spectrum of both inherited and acquired conditions with varying systemic manifestations. They usually portend an adverse prognosis, although in rare instances (eg, Fabry disease) early diagnosis can result in potentially curative treatment. Cardiac amyloid remains the archetypal infiltrative cardiomyopathy and is discussed in most detail in this article. Non-invasive imaging—principally echocardiogram and cardiovascular MRI—plays a pivotal role in the early diagnosis and follow-up of all types of infiltrative cardiomyopathy. This article focuses on the use of these modalities in infiltrative cardiomyopathy, with special emphasis on the most recent advances in imaging assessment. Amyloidosis is a clinical disorder caused by extracellular deposition of insoluble abnormal fibrils, derived from aggregation of misfolded, normally soluble, protein.1 ,2 About 20 different unrelated proteins are known to form amyloid fibrils in vivo, which share a pathognomonic ultrastructure. Systemic amyloidosis, in which amyloid deposits are present in the viscera, blood vessel walls and connective tissues, is usually fatal and is the cause of about 1/1000 deaths in developed countries. There are also various localised forms of amyloidosis in which the deposits are confined to specific foci or to a particular organ or tissue. ‘Cardiac amyloidosis’ describes involvement of the heart by amyloid deposition, whether as part of systemic amyloidosis (as is most commonly the case) or as a localised phenomenon. ### Amyloid subtype classification Systemic AA amyloidosis, formerly known as secondary amyloidosis, rarely involves the heart (table 1). Systemic AL amyloidosis, previously known as primary amyloidosis, is the most commonly diagnosed form of clinical amyloid disease in developed countries. AL fibrils are derived from monoclonal immunoglobulin light chains and consist of the whole or part of the variable (VL) domain. The heart is affected pathologically in up to 90% of AL patients, in 50% of whom diastolic heart failure with physical …

International audience; Preparticipation screening programmes for underlying cardiac pathologies are now commonplace for many international sporting organisations. However, providing medical clearance for an asymptomatic athlete without a family history of sudden cardiac death (SCD) is especially challenging when the athlete demonstrates particularly abnormal repolarisation patterns, highly suggestive of an inherited cardiomyopathy or channelopathy. Deep T-wave inversions of ≥ 2 contiguous anterior or lateral leads (but not aVR, and III) are of major concern for sports cardiologists who advise referring team physicians, as these ECG alterations are a recognised manifestation of hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC). Subsequently, inverted T-waves may represent the first and only sign of an inherited heart muscle disease, in the absence of any other features and before structural changes in the heart can be detected. However, to date, there remains little evidence that deep T-wave inversions are always pathognomonic of either a cardiomyopathy or an ion channel disorder in an asymptomatic athlete following long-term follow-up. This paper aims to provide a systematic review of the prevalence of T-wave inversion in athletes and examine T-wave inversion and its relationship to structural heart disease, notably HCM and ARVC with a view to identify young athletes at risk of SCD during sport. Finally, the review proposes clinical management pathways (including genetic testing) for asymptomatic athletes demonstrating significant T-wave inversion with structurally normal hearts.

IntroductionWe report a rare case of early-onset dementia with leukoencephalopathy in which the diagnosis was unclear until autopsy. As previously seen in case reports of this condition, there were a number of working diagnoses made, prefixed with ‘atypical’, including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and Huntington disease.1CaseA sixty-one-year old Caucasian female initially presented with 2 years of progressive chorea of her right upper limb, anxiety and memory difficulties. These symptoms steadily progressed over the next 5 years as she developed dementia and a progressive gait disturbance with pyramidal weakness. In the terminal stages of her illness, at sixty-six years of age, she had recurrent hospital admissions for pyrexia of unknown origin and finally refractory seizures and death. Her serum investigations were non-diagnostic; she was negative for both CADASIL and Huntington disease mutations. Her MRI demonstrated diffuse confluent white matter changes involving the corpus callosum and the vermis. She also had an abnormal electroencephalogram late in the course of her disease, with lateralised periodic discharges recorded during episodes of non-convulsive status epilepticus. Her autopsy revealed a leukoencephalopathy with pathognomonic histologic features of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Post-mortem genetic testing is currently underway.ConclusionOur case demonstrates the possibility of establishing an accurate diagnosis with pathology and genetic testing in cases of early-onset dementia with white matter changes. Recently elucidated entities offer diagnostic closure to patients, families and clinicians and can inform prognosis and genetic counselling. Furthermore, potential therapeutic options for leukodystrophies appear to be on the horizon.2 Our case report is the first to our knowledge to present with chorea and to exhibit vermian hyperintensity on T2-weighted MRI.References. Meyer-Ohlendorf M, Braczynski A, Al-Qaisi O, et al. Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids. BMC Neurology2015;15:103.. van der Knaap MS, Wolf NI, Heine VM. Leukodystrophies: Five new things. Neurol Clin Pract2016;6:506–514.

Background The extreme delta brush (EDB) pattern is considered pathognomonic of anti-NMDAR encephalitis. Ketamine, a NMDA receptor antagonist has induced a similar pattern on EEG when used as an anaesthetic or for refractory epilepsy. We present a case of EDB without a diagnosis of anti-NMDAR encephalitis but with possible ketamine use. Case An 18 year old male who regularly uses illicit drugs including cannabis and benzodiazepines, presented to hospital after a road traffic accident with aggression and agitation. He self-discharged and was found collapsed with severe hypoxia secondary to pneumonia. On ICU he developed stereotyped movements of the limbs with oral-facial movements. An EEG demonstrated global cortical dysfunction with an EDB pattern. He had bilateral acute pallidal and corona radiata signal change on MRI, suggestive of hypoxic injury. CSF was unremarkable. He was treated for presumed seizures but was not immunosuppressed. He subsequently improved and admitted to using ketamine infrequently. CSF and serum NMDA receptor antibodies were later confirmed as negative. Conclusions This is the second reported case of EDB without a diagnosis of anti-NMDAR encephalitis. The EDB could be explained by the suspected ketamine use, which may suggest it is specific for NMDA receptor blockade rather than encephalitis.

A correct diagnosis of the early-onset childhood retinal dystrophies requires careful clinical evaluation, the detection of suggestive or pathognomonic ophthalmoscopic clues, the use of electrophysiology to document characteristic electroretinographic findings and, in some cases, the utilisation of newer diagnostic modalities such as optical coherence tomography. Molecular diagnosis confirms the clinical diagnosis and provides the basis for possible future gene therapy. A strict definition of early-onset childhood retinal dystrophies (EOCRDs) does not exist, but inherited retinal dystrophies that are diagnosed in the first few years of life could be included under this umbrella terminology. The clinical ophthalmological manifestations of these diseases may or may not be detected at birth, and include the triad of severe vision loss, sensory nystagmus and electroretinographic abnormalities. Their clinical manifestations are light sensitivity, night blindness, fundus pigmentary changes and other psychophysical and retinal anatomic abnormalities. Diseases that could be included in the EOCRDs are Leber congenital amaurosis, achromatopsia, congenital stationary night blindness, X-linked juvenile retinoschisis, Goldmann-Favre disease and other NR2E3-related disorders, and possibly some very early-onset forms of Stargardt disease and juvenile retinitis pigmentosa. In this paper, phenotypic clues to the diagnosis of the underlying molecular defect in patients with Leber congenital amaurosis are discussed and an overview of the clinical workup of the child with a retinal dystrophy is presented. An accurate diagnosis of individual EOCRD allows a better prediction of the clinical course and the planning of possible and emerging therapies.

Endomyocardial fibrosis is the most common restrictive cardiomyopathy observed world wide. The disease occurs in its classical endemic form in the selected coastal belt in Kerala, India, affecting young people of lower socioeconomic families, and attracting worldwide attention. Geographical identification of high levels of cerium in the soil samples of this coastal belt generated a new "geochemical hypothesis" for endocardial injury. Endocardial calcification, a pathognomonic, but less common feature of the disease, may share the same pathobiology of vascular and valvar calcification occurring in other diseases. Over the past four decades, Kerala has witnessed a tremendous change in its socioeconomic and health status and a corresponding decline in new cases of endomyocardial fibrosis in the younger age group. This decline parallels the decline of rheumatic fever reported earlier in developed nations. Socioeconomic development is, therefore, a major factor in the control of this enigmatic disease.

Introduction: A torn labial frenum is widely regarded as pathognomonic of abuse. Methods: We systematically reviewed the evidence for this, and to define other intra-oral injuries found in physical abuse. Nine studies documented abusive torn labial frena in 30 children and 27 were fatally abused: 22 were less than 5 years old. Only a direct blow to the face was substantiated as a mechanism of injury. Results: Two studies noted accidentally torn labial frena, both from intubation. Abusive intra-oral injuries were widely distributed to the lips, gums, tongue and palate and included fractures, intrusion and extraction of the dentition, bites and contusions. Conclusions: Current literature does not support the diagnosis of abuse based on a torn labial frenum in isolation. The intra-oral hard and soft tissue should be examined in all suspected abuse cases, and a dental opinion sought where abnormalities are found.

Scabies is an intensely itchy dermatosis caused by the mite Sarcoptes scabiei . A patient with ordinary scabies may have an average of 12 mites; however, those with crusted scabies may have thousands of mites. The infestation occurs at all ages, but particularly in children. It is a common public health problem in poor communities and is widespread in many underdeveloped countries. Scabies is highly contagious, and person to person spread occurs via direct contact with the skin. Transfer from clothes and bedding occurs rarely and only if contaminated by infested people immediately beforehand.1 Infestation occurs when the pregnant female mite burrows into the skin and lays eggs. After two or three days, the larvae emerge and dig new burrows. They mature, mate, and repeat this cycle every two weeks. A history of itching in several family members over the same period is almost pathognomonic. However, lack of a history of itching in family members does not exclude scabies. It can be notoriously difficult to get family members to admit to a history of possible scabies, and some people with scabies genuinely seem not to itch. If left untreated, scabies can continue for many months. It is important to remember that recurrence of symptoms after attempted treatment does not exclude the diagnosis of scabies because patients may not have treated themselves correctly or may have been reinfested by an untreated contact. ### What are the symptoms and signs? The main symptoms of scabies are probably a result of the host immune reaction to the burrowed mites and their products.2 Scabies presents within two to six weeks of initial infestation, but reinfestation can provoke symptoms within 48 hours. Pruritus is the hallmark of scabies regardless of age. #### Summary points A high index of suspicion is needed to diagnose scabies correctly Consider scabies in any adult with widespread eczema …

A 14-year-old girl came to our medical attention for persisting/recurrent fever for several months; that symptom was associated to recurrent diffuse lymphadenopathy and urticarial skin rashes (figure 1). In the previous weeks, she complained of general malaise, diffuse arthralgia and musculoskeletal pain, in addition to persistent low-grade fever. Importantly, she developed also the so-called heliotrope rash (figure 2), being pathognomonic of dermatomyositis, although blood biochemistry showed no significant alterations of creatine kinase (115 U/µL) and aldolase (12 U/L), which represent the most specific serum markers of myopathy. As regards the complete diagnostic work-up, the inflammatory parameters resulted to be increased mildly to moderately and the autoimmunity panel (anti-nuclear antibodies (ANA), extractable nuclear antigens (ENA), anti-double …

A 19-year-old male patient was referred by his general practitioner with a new ‘cardiac murmur’. For 1 week, he had been able to provoke a clicking sound, which was in time with his heart beat and originated from his chest. The physical examination and laboratory tests were normal. The sound was initially interpreted as most likely due to a valve condition such as mitral valve prolapse, but a transthoracic echocardiogram was normal. A cardiac CT was obtained, which showed left-sided ventral pneumothorax. The Hamman’s sign is a loud precordial pulse synchronous sound, which is often postural. It is pathognomonic for left-sided pneumothorax or pneumomediastinum. Hamman’s sign as a presenting symptom is rare, but if present is key to diagnosis. The awareness of rare clinical findings is important and will prevent unnecessary diagnostic tests.

Correctly identifying Koplik’s spots is not an easy feat, as noted in Spitzer’s excellent letter.12 Koplik’s spots are still thought to be pathognomonic for measles, but oral lesions, similar in appearance to Koplik’s spots, can be found in other illnesses, such as parvovirus B12 infection.3 Zenner and Nacul’s study included reporting of “Koplik’s spots” by clinicians with variable levels of experience and did not include independent assessment …

Cockbain and colleagues write that Koplik’s spots “are pathognomonic for measles.”1 Yet later …

Small bowel diverticulosis of the jejunum and ileum is an uncommon finding with a prevalence rate of 0.2% to 1.3% at autopsy and 0.3% to 1.9% on small bowel studies. Diagnosis can be difficult because there are no pathognomonic features or clinical symptoms that are specific for small bowel diverticulosis. Though rare, it is critical to keep the possibility of small bowel diverticulosis in mind when evaluating cases of malabsorption, chronic abdominal pain, haemorrhage, perforation and intestinal obstruction, especially in patients with connective tissue disorders, a family history of diverticula and a personal history of colonic diverticulosis. Guidelines for the treatment of complicated small bowel diverticulosis are not clearly defined. However, the consensus in treatment is to do a small bowel resection with primary anastomosis. We report three interesting cases of jejunoileal diverticula that presented in an occult manner and later progressed to more emergent manifestations.

Oral hairy leukoplakia (OHL) is an oral mucosal lesion that is associated with Epstein-Barr virus infection. It commonly presents as an asymptomatic, non-removable white patch on the lateral borders of the tongue in individuals who are immunocompromised. Historically, OHL was thought to be pathognomonic of HIV infection; however, it is now an established phenomenon in a range of conditions affecting immune competence. Hairy cell leukaemia (HCL) is a rare chronic B cell lymphoproliferative disease named after the distinctive cytology of the atypical cells. We report the first case of OHL arising in an individual with HCL that resolved following remission of the haematological malignancy.

Behcet's disease is a chronic inflammatory disorder of unknown aetiology characterised by recurrent attacks. Although the triple symptom complex of oral and genital ulcerations with uveitis was reported by Hippocrates and other authors who attributed the symptom triad to major infections, Hulusi Behcet, a Turkish dermatologist, discarded the association with other illnesses and was the first to delineate the disease that now bears his name.1 Clinical manifestations additional to this triad were described later including involvement of the skin, joints, large vessels, lung, brain, gastrointestinal and genitourinary tracts (table 1).2-6It is now recognised as a multisystem disease with vasculitis as the main pathological finding.6-10 View this table: Table 1 Frequency of clinical manifestations in Behcet's disease8 9 12 Since Behcet's disease does not have pathognomonic symptoms or laboratory findings, the diagnosis is made on the basis of the criteria proposed by the International Study Group for Behcet's disease in 1990 (table 2).11 According to the criteria, recurrent oral ulceration must be present and at least two of the following: recurrent genital ulceration, eye lesions, skin lesions, or a positive pathergy test (development of a papule or pustule following a needle prick to the skin, as in table 2). View this table: Table 2 International Study Group criteria for the diagnosis of Behcet's disease11 Although Behcet's disease has a worldwide distribution, most cases cluster along the ancient Silk Road which extends from far eastern Asia to the Mediterranean basin (table 3).12-18The highest prevalence rate was reported from Turkey as 80–370 per 100 000. The prevalence ranges from two to 30 cases per 100 000 in other Asian countries, with lower figures in Europe and the USA. The age of disease onset is usually in the second or third decade of life and the male to female ratio is reported to …

Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia which is congenital and non-progressive. There is a substantial risk of retinal detachment. Less common ophthalmological features include paravascular pigmented lattice degeneration and cataracts. Non-ocular features show great variation in expression. Children with Stickler syndrome typically have a flat midface with depressed nasal bridge, short nose, anteverted nares, and micrognathia. These features can become less pronounced with age. Midline clefting, if present, ranges in severity from a cleft of the soft palate to Pierre-Robin sequence. There is joint hypermobility which declines with age. Osteoarthritis develops typically in the third or fourth decade. Mild spondyloepiphyseal dysplasia is often apparent radiologically. Sensorineural deafness with high tone loss may be asymptomatic or mild. Occasional findings include slender extremities and long fingers. Stature and intellect are usually normal. Mitral valve prolapse was reported to be a common finding in one series but not in our experience. The majority of families with Stickler syndrome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype. The remainder with the type 2 vitreous phenotype have mutations in COL11A1 or other loci yet to be identified. Mutations in COL11A2 can give rise to a syndrome with the systemic features of Stickler syndrome but no ophthalmological abnormality.

Many cardiac neoplasms lack pathognomonic clinical features, and this leads to controversial interpretations. As genomic changes may correlate with these malignancies and possibly aid in diagnosis, fluorescence in situ hybridisation (FISH) was used to study a polypoid lesion found incidentally at autopsy on the septal wall of the left ventricle of a 75-year-old man who had died from a heart attack. Histology and immunohistochemistry disclosed atypical stromal cells with irregular voluminous nuclei positive for vimentin and smooth muscle actin; these cells were reminiscent of those previously reported in a subset of nasal polyps showing aneuploidy. The scarce lymphoplasmocytic infiltrate hindering the diagnosis of inflammatory myofibroblastic tumours (IMT), and the presence of atypical cells, prompted the use of FISH: lack of ALK gene rearrangement and aneuploidy were observed in the irregular nuclei, supporting the diagnosis of a pseudosarcomatous myofibroblastic proliferation (PMP). These results stress that IMT and PMP may represent variants within a spectrum of myofibroblastic proliferations/tumours.

An 8-month-old girl has been referred to the emergency department by her general practitioner with a 24-h history of drooling, intermittent screaming and low-grade fever (maximum 38.2°C). She is refusing solids and her fluid intake has decreased. Her parents report that her nappies are drier than normal but her stools are looser. She has had some relief from oral paracetamol syrup. Her parents suspect teething. On examination she is found to be miserable. She is not clinically dehydrated and has a diffusely hyperaemic right cheek. On examination of her mouth you notice a raw area on her upper gums where two teeth are erupting. No other abnormal clinical signs are noted. You agree that the infant may be teething, but wonder if there are any symptoms that would distinguish between teething and an alternative diagnosis. In an infant with suspected teething (patient), are there any symptoms or signs pathognomonic of teething (assessment) that would allow for the reassurance of parents without further management (outcome)? Secondary sources: none. Medline (1966–September 2006) using the Ovid interface was analysed for articles containing the keywords “(teething or tooth) and symptom$ and (infant or baby)”. Limits included human and English language only. In total, 78 articles were identified, of which teething was the main focus in 21 articles. There were three prospective studies1–3 and two retrospective studies45 examining the …

Recurrent pain in the lower leg caused by exercise is a common problem in athletes. The main causes are exercise induced compartment syndrome, periostitis of the tibia, stress fracture, venous diseases, obliterative arterial diseases, and shin splints. Exercise induced compartment syndrome is the least common. A recurrent tightening or tense sensation and aching in anatomically defined compartments is pathognomonic. The symptoms are caused by abnormally high pressure in compartments of the leg during and after exercise. In this report, a case of exercise induced compartment syndrome in a professional footballer is described.

Neuromyelitis optica (NMO) spectrum disorder typically associates with a pathognomonic antibody response directed against aquaporin 4 and a unique immunopathological signature characterised by loss of aquaporin 4 expression. We describe a tumefactive presentation of NMO in which a biopsy specimen demonstrated active demyelination and reactive astrocytes with preserved surface aquaporin 4 immunoreactivity and dystrophic processes. While the astrocytic pathology is more typical of classical multiple sclerosis, a positive NMO-IgG (1:80) and subsequent clinical presentation with an area postrema syndrome is consistent with a diagnosis of NMO spectrum disorder. This report expands the immunopathological features that have been reported in NMO spectrum disorder.

A 23-year-old Japanese woman, previously a commercial sex worker, presented with a 2-day history of right upper quadrant (RUQ) abdominal pain, worse on deep inspiration. She had noticed increased vaginal discharge 2 months earlier and had developed dull, lower abdominal pain 3 weeks prior to presentation. Although pelvic examination and transvaginal ultrasonography revealed neither a tubal nor ovarian pathology, abdominal CT scan with contrast demonstrated early enhancement of the hepatic capsule, a finding pathognomonic for Fitz-Hugh-Curtis syndrome (FHCS). Cervical discharge PCR assay confirmed Chlamydia trachomatis infection. This case highlights that normal gynaecological evaluation may be insufficient to rule out FHCS, for which physicians should have a high index of suspicion when seeing any woman of reproductive age with RUQ pain.

Acute calcific longus colli tendinitis (ACLCT), a very rare cause of severe neck pain, dysphagia and odynophagia, is often mistaken for other common causes of neck pain. However, prompt recognition of this uncommon presentation is important to prevent unnecessary medical and surgical intervention. A 46-year-old Caucasian man presented with a 1-day history of severe neck pain, headache and odynophagia. The patient was afebrile with stable vital signs, however, the laboratory data showed mildly elevated C reactive protein and erythrocyte sedimentation rate. The physical examination was remarkable for markedly reduced cervical range of motion. MRI revealed the pathognomonic findings of paravertebral oedema and calcification. The definitive diagnosis of ACLCT was made and the patient was successfully managed with a short course of oral steroid, benzodiazepine and aural acupuncture, with complete resolution of the condition within a week.

Background Ocular involvement of syphilis remains relatively rare, however our clinic has seen a recent flurry of cases with 13 new diagnoses in the last 2 years, compared with 11 seen in the proceeding 10 years. It can be difficult to diagnose with no pathognomonic signs and can affect any structure of the eye. Aim To present a cluster of 13 new cases ocular syphilis diagnosed from 2013 until January 2016. Methods A retrospective case review. Results In conjunction with our tertiary eye hospital, our clinic’saw 13 patients diagnosed with ocular syphilis between July 2013 and January 2016. All 13 patients were male: 6’heterosexual; 5 men who have sex with men (MSM) and 2 bisexual. 3 patients were HIV positive. Mean age 42 (range 22–75). Ocular involvement included uveitis (anterior, posterior and pan-), optic neuritis, papillitis and retinitis. Cases include both unilateral and bilateral symptoms. All were treated as per national guidelines for neurosyphilis with procaine penicillin plus probenecid, proceeded by oral steroids. The majority of these patients’ symptoms resolved following treatment, however a few continue to have ongoing visual disturbances. Discussion We present our 13 cases of ocular syphilis. They illustrate the diverse range of presentations of ocular syphilis and the importance of partnership between the GU clinic and specialist ophthalmology services.

Question 1: The correct answer is E The clinical signs and radiographic findings were consistent with a lethal phenotype of perinatal hypophosphatasia. Hypophosphatasia is a rare (estimated incidence of 1/100 000 to 1/300 000 live births) autosomal recessive or dominant condition caused by loss-of-function mutation(s) in the ALPL gene encoding the tissue non-specific form of alkaline phosphatase (ALP). ALPL is the only gene known to be associated with hypophosphatasia and its mutation can lead to a pathognomonic dyad of low serum levels of ALP activity and deficient bone mineralisation.1 …

A 12 year old girl presented with chronic nail dystrophy and triangular lunulae, which are pathognomonic of nail-patella syndrome (NPS), …

Objective To highlight a new phenomenon that we have encountered in children during the past 5 years. Children in this group have a pathognomonic clinical picture of sudden acute severe abdominal colic during which the child is continuously screaming for 1–2 min. All these patients were initially diagnosed on clinical and ultrasonographic grounds as acute intussusception. Careful interpretation of the radiological findings revealed faecal impaction of the terminal ileum and caecum. Design This is a retrospective study looking at children presenting between 2009 and 2014 with acute severe abdominal colic pain. These were 11 patients aged 9 months to 5 years. We reviewed our experience in the management and diagnosis of these patients. Result All patients were diagnosed initially as intussusception, which was confirmed by ultrasonography (US). US revealed an appearance mimicking intussusception, 3 cases of which were intermittent. This US appearance proved to be a hard stool filling the terminal ileum. In all patients, abdominal X-ray revealed stool at the right side of the colon filling the caecum. Diagnostic gastrografin enemas that were performed in four patients excluded intussusception and confirmed stool at the caecum and ascending colon. In none of those patients had contrast passed into the terminal ileum. There was dramatic response to fleet and/or gastrografin enemas. Five patients required a second dose of enema and two patients required three doses. Conclusions We highlight a new phenomenon of severe abdominal pain caused by faecal impaction of the terminal ileum and caecum. Increased awareness of this condition helps to avoid unnecessary investigations and/or surgical exploration.

Biometric study in a series of 11 affected males provides characteristic findings. The patients present with a large cornea with short radius, very deep anterior chamber depth (AC depth) exceeding the normal mean value of plus 2 SD, and a short vitreous length. Calculation of the postlimbal depth, a method applied in this study to obtain information about positioning of the iris and the lens, reveals a posterior positioning of the iris and lens. The posterior positioning of the iris and lens was proved to occur at the expense of the vitreous. The importance of biometric data for diagnosis and for differential diagnosis in primary infantile glaucoma and other diseases with megalocornea is discussed.

Donovanosis is a predominantly tropical cause of genital ulcer occurring chiefly in small endemic foci in all continents except Europe. Diagnosis requires the careful collection, staining and examination of smears or biopsies of characteristic genital and, occasionally, extragenital lesions for demonstration of the pathognomonic Donovan bodies (Calymmatobacterium granulomatis) within histiocytes. Successful isolation of C. granulomatis has rarely proved feasible, the last report being in 1962. Donovanosis has a characteristic histopathological picture which occasionally simulates epithelioma. The antibiotics reported as showing good activity in donovanosis are those with good activity against gram negative bacilli and whose lipid solubility ensures good intracellular penetration. They include streptomycin, chloramphenicol, erythromycin, lincomycin, cotrimoxazole and the tetracyclines. More recently, good results have been reported with norfloxacin and thiamphenicol. The treatment of donovanosis in pregnant women and patients with AIDS poses special problems. Complications of donovanosis such as elephantiasis, stricture and pelvic abscess may require surgery. Contacts should be traced for examination but only treated if lesions are found.

The perianal appearances were studied prospectively of 136 constipated children (mean age 3.9 years, 67 boys, 69 girls). Anal dilatation, fissures, tags, warts, perianal oedema, redness, blueness, and veins were recorded. It was noted whether dilatation occurred immediately or at 30 and 60 seconds with the buttocks minimally separated, and on subsequent firm lateral traction of the buttocks. The degree of faecal loading was assessed in all children. Anal dilatation was found in 24 (18%) and first appeared on lateral traction in eight (6%). In three quarters of the children with dilatation faecal loading or perianal signs were present. Fissures were found in 35 (26%) children and tags in seven (5%). Perianal redness was more likely to be associated with fissures, and blueness with dilatation. We conclude that there are no pathognomonic perianal signs in childhood constipation and that the technique of anal examination should be standardised.

Background Lipoproteins have an integral role in the pathogenesis of CAD. Quantitative proteomics is evolving to become an indispensable tool in the era of precision medicine. Using an unbiased lipoproteomic discovery workflow we sought to investigate the lipoproteomic differences between stable CAD patients and controls subjects and to reveal novel pathways/mechanisms that underpin this common disease. Methods Male patients with stable CAD (n = 49, mean ± SD; age 64 yrs ± 8.69) and without CAD (n = 17; mean age 74 yrs ± 6.21) were recruited into this single centre prospective cohort study. Plasma was co-incubated with a lipophilic affinity resin. Isolated lipoproteins were reduced, alkylated, digested and analysed using label-free high definition ion mobility enabled mass spectrometry. Raw data was analysed using Progenesis QI software with a stringent false discovery rate of 1%. Results 202 proteins showed significant differential expression between the CAD patients and the control subjects (P Conclusion Patients with CAD have a distinct pathognomonic lipoproteomic cargo. The measurement of certain lipoprotein associated proteins may assist in the early identification of such patients before symptom onset.

Title Evaluation of Angiographic appearances of Moya Moya variants and their treatment options Purpose To familiarize the viewer with many of the different disease entities known to cause the Moya Moya angiographic phenotype and help the viewer to identify additional salient imaging findings elsewhere in the body that may help with more precise diagnosis. Approach/methods 1. Review relevant anatomy of the intracranial arterial circulation. 2. Describe the Moya Moya disease findings. 3. Describe several of the known diseases that cause Moya Moya appearance on angiography and give imaging examples of each by angiographic studies. 4. Imaging examples of pathognomonic findings in each disease entity.5. Review of imaging features that correlate with symptomatic disease where treatment is indicated. 6. Discussion of past and current treatment modalities including intracranial angioplasty, stenting and surgical bypass options. Findings/discussion The “puff of smoke” imaging findings described for moya moya can be seen with the classic Moya Moya disease which was first described in Japanese families in the 1950’s. Since that time, we have identified other disease that has similar presentations such as neurofibromatosis, lupus erytmatosis and fibromuscular dysplasia. Evaluating perfusion in asymptomatic patients as well as stroke burden in symptomatic patients have been used to guide need for treatment. Treatment of this condition has been traditionally medical with aspirin as well as surgical through bypass surgery. Endovascular stent angioplasty has been utilized for intracranial stenosis associated with Moya Moya disease although evidence for its efficacy is thin in the current literature. After SAMMPRIS and COSS trial, evidence for benefit from intracranial stents or surgical bypass for intracranial atherosclerotic disease has come into question. Surgical bypass or intracranial angioplasty may offer additional treatment options for Moya Moya disease type patients in the future. Conclusion By describing the angiographic patterns associated with Moya Moya phenomenon as well as associated symptoms we hope to elucidate the nuances of angiographic appearances in this broad clinical setting which may help narrow the differential diagnosis.. We will also discuss the treatment options and the current level of evidence for endovascular or surgical treatment. Disclosures R. Shastri: None. N. Chaudhary: None. A. Pandey: None. C. Roark: None. B. Thompson: None. J. Gemmete: None.

Background The absence of pathognomonic serological markers of BD represents a serious difficulty for the diagnosis of Behcet9s disease (BD). The International Study Group (ISBD) criteria have been repeatedly questioned by filing a suboptimal sensitivity according to some experts. Recently, a new set of International Criteria for BD (ICBD) 1 have been proposed considering oral ulcers, genital ulcers, vascular, cutaneous, or central nervous system involvement and patergy test. Each manifestation corresponds to some points and patients with ≥4 points are considered to have BD. This new criteria have shown a substantial improvement in the diagnostic sensitivity. Objectives To compare the diagnostic sensitivity of the criteria for the classification of BD from the ISBD and the new ICBD criteria in the cohort of patients of the Spanish Registry (REGEB in the Spanish nomenclature). Methods The demographic and clinical features of BD patients included in the REGEB were analyzed using a computerized database. This project was performed under the auspices of the Working Area of BD, on behalf of Systemic Autoimmune Diseases Group (GEAS) of the Spanish Society of Internal Medicine (SEMI). This registry started in 2009, with a multicenter, consecutive, retrospective design. Results Up to December 2014, 573 patients from 20 Spanish hospitals were included in the REGEB. Overall, 308 (54%) patients were women and the mean (SD) age at the first manifestation of the disease was 29 (12) years (range10-73). The median delay of diagnosis was 24 months (range 0-420) and median follow-up time was 126 months (range 0-758). The majority of patients (94%) was of Caucasian origin followed by Arabic origin (4%), and African (1%). The prevalence of manifestations common in both set of criteria were: oral ulcers (94%), genital ulcers (61%), vascular (18.2%), ocular (45.2%), cutaneous (59.9%) and neurologic (12.4%) involvement. Considering ISBD criteria, 541 (94%) patients met the major criteria. Regarding minor criteria, 350 (61%) met at least two of the minor criteria. Therefore, 61% fulfilled diagnostic criteria of definite BD and the remaining of probable BD (only one minor criterion or no major criterion -in 32 cases- but with another element of high suspicion). Considering ICBD 2014 criteria, 85% of patients have 4 or more points and therefore fulfilled the diagnostic criteria of BD. 13% have 3 points (diagnostic of possible BD). Overall, 27,9% from patients who did not fulfill definite diagnosis of BD according ISBD criteria, have at least 4 points according ICBD 2014 criteria. Conclusions The new ICBD 2014 criteria showed higher sensitivity than ISBD for the diagnosis of BD in the REGEB cohort. References JEADV 2014, 28, 338–347 Disclosure of Interest None declared