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We report here the case of a 27 years old female previously diagnosed with malignant melanoma, who was treated surgically and by chemotherapy for two years and who presents for a progressive neurological deterioration. We show the particular aspect of multiple brain metastases on the CT-scan performed at admission. [ABSTRACT FROM AUTHOR]

Lipodystrophies are disorders characterised by loss of adipose tissue, localised or extensive, with different patterns of progression and comorbidities coresponding to the hereditary characteristics involved. The acquired partial lipodystrophy subtype (Barraquer-Simons syndrome) has rarely been reported, w ith only a few hundred cases worldwide. We report the case o f a 32-year-old female reffered to our clinic to further investigate a suspicion of fado-scapulo-humeral muscular dystrophy and/or scleroderma. The clinical presentation is characterised by slowly progressive facio-brachio-thoracal atrophy w ith cranio-caudal pattern of progression that started 8 years ago. The integrity and function of the muscles were preserved, however a marked loss of subcutaneous tissue was noticed, contrasting the pronounced volume of adipose tissue on the abdomen and legs, This typical presentation associated with C3 hypocom plementemia, in the absence o f other abnormal findings, overlaps completely the clinical description o f aquired partial lipodystrophy. Despite being a more benign type of lipodystrophy, a variety of accompanying disorders must be excluded. diabetus mellitus, dyslipidemia, membranoproliferative glomerulonephrytis or, less frequently, autoimmune diseases of the connective tissue. Being a rare disorder, the physical presentation can lead to confusion w ith a diverse range o f pathologies, delaying the diagnosis and potentially leading to extensive use of resources w ith little to no benefit. Furthermore it may cause late recognition of comorbidities, ignoring simple therapeutic solutions w ith major consequences. [ABSTRACT FROM AUTHOR]

After headache, vertigo and dizziness are among the most frequent presenting symptoms to a physician. Vertigo and dizziness are due to many multisensory and sensorimotor syndromes of various aetiologies and pathogeneses. Diagnosis should be based on clinical history and neurotological evaluation. The pharmacotherapy of vertigo assumes a correct diagnosis, a correct drug, an appropriate dosage and a suffi cient duration. Several classes of drugs could be used to treat vertigo: antiemetics, anti-infl ammatory, anti-Meniere’s, and anti-migrainous medications; anti-depressants, anti-convulsants, and aminopyridines; medical reasoning should by dynamic and fl exible, adequate of each individual case. [ABSTRACT FROM AUTHOR]

Creutzfeldt-Jakob disease is a low incidence progressive neurodegenerative disorder and, meanwhile, the most frequent human prion disease. We report here the case of a 65 years old female with a 2-month history of rapidly progressive dementia. The clinical examination identified patent cerebellar and extrapyramidal signs. Despite the absence of myoclonic jerks and pathological findings in T2 and FLAIR MRI, the presence of protein 14-3-3 in a significant amount in cerebrospinal fl uid (CSF) was identified. The patient succumbed to the illness within 2 month of hospitalization. [ABSTRACT FROM AUTHOR]

Systemic lupus erythematosus (SLE) is one of the most common immune mediated inflammatory diseases w ith multiple systemic manifestations, neuropsychiatric lupus (NPSLE) being one of them. Multiple sclerosis (MS) is also one of the most common autoimmune inflammatory diseases, altougb limited to the central nervous system. In spite of their frequency, an extensive research of the literature shows only IS associations of the tw o disorders. We report the case of a 37-year-okf woman, diagnosed w ith MS in 2007 when suffering from paraparesis w ith urinary incontinence, partially remmited and then worsened in 2009, being also diagnosed with SIX in 2014 {5 ACR criteria). At the beginning o f 2017 she presented to our clinic for an important impairment of visual acuity, being on minimal maintenance treatment for SLE and no immunomodulatory therapy, raising m ultiple questions about the ethiopathology responsible for the present episode and for the previous ones, the posibility of associating tw o rare diseases and the ideal therapeutic approach o f an atypical case. NPSLE can clinically, biologically and imagistically overlap the clinical and paraclinical tableau o f MS, but the presence o f sistemic features establishes the diagnosis, making the consideration o f a second ethipathogenic process a redundancy. This approach is positively correct in most cases, but the fear o f considering the association of tw o rare diseases, even when confronted with strong proof, may lead to decisions w ith great impact on the patient's life. [ABSTRACT FROM AUTHOR]

The endoplasmic reticulum stress (Efts) is a non-immune mechanism that contributes to the pathology of idiopathic inflammatory myopathies and muscular dystrophies, The question is whether the ERs is just a consequence of the inflammatory process or the phenomenon that triggers inflammation. fn the muscle fiber damage process, the immune and non-immune components are connected by NF-kB. It is rapidly activated both through inflammatory pathways, and in response to the ERs. Recent studies have shown that over-expression o f MHC I induces NF-kB activation and ERs triggering in various forms o f myositis. In this presentation we would like to show the vs nation of NF-k8 expression depending on MHC I overexpression in different muscle diseases with an inflammatory component. The investigation used muscle biopsies from patients with various forms of myositis and muscular dystrophy. The phenotypic expression of the proteins was investigated by immunohistochemistry/immunofluorescence and Western blot. Cryopreserved samples of muscle tissue and muscle cryosecbons were used. The results obtained may have an impart both for diagnosis and for a better understanding of the pathology of these diseases. In addition, NF-kB could be a potential therapeutic target in myopathies w ith an inflammatory component. This study was funded by ANCSI, Nucleu Project PN 16.22.02.04. /2016 ' Proteomk and epigenetic biomorkers in myosiris and muscular dystrophy, their Importance in the precision diagnostics as possible therapeutic targets." [ABSTRACT FROM AUTHOR]

Limb-girdle muscular dystrophy comprises a phenotypical spectrum of muscular dystrophies with a high degree of genotypical variability which commonly has it's onset in adulthood and is characterised by an important proximal muscular weakness. The advances in genomic sequencing lead to a comprehensive description of mutations responsible for this phenotype, doubling the number o f depicted loci in the last 10 years. We describe the case of a 56-year-old male whose clinical presentation started about 15 years ago w ith proximal muscular weakness o f the upper limbs followed by slow progression to the proximal tower limbs musculature. Additionally he associates significant cardiological pathology dilatative cardiomyopathy, permanent atrial fibrillation, as well as restrictive ventilatory dysfunction. The histopathologicat examination shows a severe dystrophic picture and reduced dyspherlin w ith immunobistochemistry. Geneting testing revealed a unique never reported genotype association responsible for the clinical presentation: a homozygous variant in the DES gene, associated with myofibrillar myopathy type 1 and LGMD2R, as well as a heterozygous variant in the CRVA8 gene, associated w ith m yofibrillar myopathy type 2. Both mutations can phenotypically present w ith limbgirdle muscle dystrophy and explain the severe cardiological and respiratory involvement, w ith a therapeutic approach centered on treating them and their inherent complications. [ABSTRACT FROM AUTHOR]

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system (CNS) characterized by progressive choreiform movements, psychiatric disturbances and cognitive Impairment leading to dementia. The disease is caused by a cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the huntingtin (HTT) gene on chromosome 4p that encodes the protein huntingtin. In spite of HTT's widely distribution throughout the brain and many other tissues, the pathology of MD appears to be limited to the CNS with a selective neuronal cell loss, the atrophy of the neostriatum being most prominent; MRI volume measurements suggest that striatal atrophy begins 9 to 20 years before the clinical diagnosis of h d . The disease is transmitted in an autosomal dominant manner, Occasionally, it is caused by a new HTT gene mutation in the affected individual. We report a series of 5 HD patients to describe the clinical presentation and progression features. The patients were referred to our clinic in different stages of evolution. The diagnosis was based on genetic testing. Full clinical neurologic examination and psychological assessment were performed. We describe 4 men and 1 woman, 2 of them had no family history compatible with this disease. The woman has a twin sister with no neurological or psychiatric complaints so far; no presymptomatic genetic screening was made. Three patients experienced the disease onset at the beginning of the third decade. The correlation of CAG repeat number with age of onset is similar to that seen in populations reported in literature. [ABSTRACT FROM AUTHOR]

Sarcoidosis isa multisystem inflammatory disease which can involve the CNS. We report the case of a 47 year old male presenting w ith progressive urinary retention and erectile dysfunction. The MRI o f the spinal cord detects T2/ FLAIR hypeiintensity w ith leptomeningeal enhancement of the conus medullaris (T12-L1). CT o f the thorax revealed inv portant mediastinal adenopathies and areas o f subpleural fibrosis. The pathology of the intra thoracic lymph nodes was typical for sarcoid. The features o f CNS and spinal dissemination of sarcoidosis are reviewed. [ABSTRACT FROM AUTHOR]

Introduction. 25% of deaths are caused by brain metastasis. After lungs and breast cancer, melanoma is the third cause that can lead to brain metastasis; this are often more than one and could be hemorrhages. Methods. We present the case of a 43 years old male, without any known medical history, who suddenly has headaches, mentat confusion and vomiting. Results. CT and MRl cerebral scan w ith and w ithout contrast reveals cortico-subcortical brain masses in frontal, parietal, temporal and occipital lobes both parts and also in right thalamic region. Displacement of midsaggita! structures by 6 mm to the right. Scans conclusions: brain metastasis, some of them with hemorrhagic content. By performing thorax, abdominal and pelvic CT scans we ruled out primary tumors. Dermatological exam showed no abnormalities. IgG and igM for Toxoplasma, Toxocara and for Cysticercosis have been in range. Anti HIV 1+2 has been negative, RPR-negative. SlOQ protein elevated: 0,247 mcg/l (normat values <0,105 mcg/l). The evolution of the patient was unfavorable under symptomatic treatment. The patient became tetra paretic and restlessness. The patient was transferred to Coientina Hospital Neurology Section where brain biopsy o f the left frontal mass was made. The biopsy revealed a typical hystopatological and immunohystochimical aspect of brains metastasis which originated from malign melanoma. Conclusions. Malign melanomas often can determine brain metastasis before a skin lesion appears. The particularity of this case is the acute onset, rarely found in cerebro-metastatic syndrome. [ABSTRACT FROM AUTHOR]

Autoimmu ne encephalitides a re disorders whose understanding knew a spectacular expansion in the last decade. Multiple parainfectious or paraneoplastic antibodies against a variety of cerebral intracellular or neuronal cell-surface epitopes have been described in this period of rime. The spectrum of these antibodies will be broadened in the future. We report the case of a 74-year-old man who, 3 weeks after a herpetic encephalitis, presented worsening of residual deficits (mixed aphasia and right hemiparesis), stupor and epileptic seizures, w ith recovery after corticotherapy escalation, A viral relapse was excluded. Subsequent tappering of corticoids was accompanied by a similar clinical picture at 3 and 4 months after initial presentation. According to literature, 20% of herpetic encephalitides relapsesare caused by an autoimmune process occuring in the first weeks after the initial infection, most o f them w ith anti-NMDA antibodies. The presence of these antibodies was also reported in 30% of CMS infections w ith the herpes simplex virus, regardless o f the subsequent development. In our case economic rationale limited the biological Investigation only to serum anti-NMDA andanti-VGKC antibodies - both negative, in such situations where logistical issues interfere with ideal medical practice or when there is a negative extensive autoimmune assessment, clinical and paradinical criteria were introduced to guide the practitioner in establishing the likelihood of an autoimmune encephalitis. [ABSTRACT FROM AUTHOR]

We report the case of a patient diagnosed w ith T-cell acute lymphoblastic leukaemia, who underwent polychemotherapy with systemic (NILG protocol, 3 chemother apy consolidation courses) and intrathecal administration (1 session), subsequently with alleged remission of the hematological disease (bone marrow aspiration), where in the occurrence of a peripheral facial palsy mimicking a frigore facial palsy led to the diagnosis of neurological involvement of leukaemic nature. We present the underdiagnosed neurological complications of acute leukaemia, as they ought to be known both by hemotologists and by neurologists. [ABSTRACT FROM AUTHOR]

Hemangiopericytoma pertains to the spectrum of solitary extramedullary fibrous tumours, accounting for less than 1% of intracranial tumours. We report the case of a patient w ith hemangiopericytoma located in the posterior fossa, diagnosed în 2007 and multiply relapsed, which prompted 3 neurosurgical interventions and 2 courses of radiotherapy. We herein discuss the epidemiology, clinical traits and prognosis, as well as the iconography. [ABSTRACT FROM AUTHOR]