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Background Juvenile idiopathic inflammatory myopathies (JIIMs) are a group of heterogenous, acquired, autoimmune disorders that affect the muscle. While the association between IIMs and malignancy has been widely reported in adults, cancer-associated myositis (CAM) is rare in children, so that routine malignancy screening is not generally performed. This report shows a case of severe CAM in a child. Case presentation An 11-years-old girl presented with worsening dyspnea after a 3-weeks history of progressive proximal weakness, myalgia, dysphagia, and weight loss. Her past history was remarkable for a type I Arnold-Chiari malformation associated with an anterior sacral meningocele. Physical examination showed severe hypotony and hypotrophy. Pulse oximetry and blood test showed a type II respiratory failure (SpO2 88%, pCO2 68 mmHg) and increased muscle enzyme levels (CPK 8479 U/L, AST 715 U/L, ALT 383 U/L, LDH 1795 U/L). The patient needed invasive mechanical ventilation. Inflammatory myositis was considered and treatment with intravenous methylprednisolone (30 mg/Kg/day for 3 days followed by 2 mg/Kg/day) and IVIG (1 g/kg/day for 2 days) was started. Muscle biopsy showed endomysial and perimysial necrosis and inflammation. The presence of serum anti-TIF1-γ antibody positivity led to a malignancy screening. Whole-body MRI showed a mature teratoma underneath sacral meningocele and both lesions were surgically removed. Given the histological and clinical severity of the myopathy, mycophenolate (500 mg twice a day) and rituximab (360 mg/m2, 4 weekly infusions) were added. Due to extreme muscular wasting, severe malnutrition and intolerance to enteral feeding the patient needed a transient tracheostomy and parenteral nutrition, followed by physiotherapy, speech therapy and nocturnal non-invasive ventilation. A complete remission was achieved 3 months after. Conclusions Among cancer-associated autoantibodies (CAAs) in adult patients, anti-TIF1-γ carries the highest risk of CAM, which recognizes with a high likelihood a paraneoplastic pathogenesis. In children, anti-TIF1-γ antibody has been associated with severe cutaneous disease, lipodystrophy, and chronic disease course, but not with CAM, which is overall rare in younger patients. Severe onset of a JIIM, especially if anti-TIF1-γ antibody positive, should prompt suspect of a CAM and lead to a screening for malignancy.

A 14-year-old adolescent girl presented with severe abdominal pain, tenderness, and guarding in the right upper quadrant associated with nonbilious vomiting, scleral icterus, and fever. Laboratory tests were consistent with acute hepatitis A virus-related cholestatic hepatitis. A point-of-care ultrasound showed mild gallbladder wall thickening with increased color Doppler flow and pericholecystic fluid collection, in the absence of gallstones or biliary ducts dilatation, thus suggesting acute acalculous cholecystitis. Both the clinical symptoms and the point-of-care ultrasound findings completely resolved within 1 week after admission with conservative treatment.

Background: Somatic symptom disorder is common in children and adolescents; usually, it is an expression of a mental health problem or other conditions that lead to psychosocial impairment and suffering. Among these, in pubertal age, gender dysphoria should be considered.Case Presentation: We present the case of a 15-year-old girl admitted to the hospital because of a 2-month history of scattered arthralgia and myalgia, headache, and fatigue, with repeated visits to the emergency room. The physical exam was unremarkable, except for step walking and pain. Repeated diagnostic tests were normal, and consecutive psychological interviews disclosed intense suffering due to a gender incongruence. Referral to the hospital gender service was offered and refused by the parents.Conclusions: In pubertal age, gender dysphoria may be expressed through somatoform symptoms. Diagnosis is challenging to accept for the parents even in the presence of adequate multi-disciplinary hospital services.

A 6-year-old boy was evaluated for a 6-week history of low back pain. Initially, the pain was exacerbated by movements, eventually showing a milder and fluctuating trend. History was unremarkable for previous traumatic events, fever or nocturnal pain. Physical examination revealed localised pain at palpation of the spinous processes at the lumbosacral level. Blood tests showed a normal blood count, negative C reactive protein (CRP) and erythrocyte sedimentation rate, normal lactic acid dehydrogenase (LDH) and creatine phosphokinase.A posterior–anterior radiograph of the lumbar spine resulted normal. An MRI scan revealed a lumbosacral transitional vertebra with bone oedema of the posterior arch until the spinous process.For better bone definition, a CT scan was performed (figure 1).Figure 1CT scan of the transitional lumbosacral (L5) vertebra.QuestionsWhich causes of persistent low back pain should be ruled out in children under 10 years of age?OsteochondrosisNeoplasmFunctional painInfectionsWhat is the diagnosis in this patient?How is the diagnosis performed?How is this condition managed?Answers can be found on page 2.

Background: Homocystinuria is a rare inborn error of metabolism, resulting in the accumulation of homocysteine and methionine in tissues, which manifests as disorders of the connective tissues and increased risk of thromboembolism. The latter is the primary cause of morbidity and mortality, and can be prevented by the prompt start of the specific therapy aimed at lowering homocysteine plasma levels.Case presentation: A nine-year-old boy was admitted to the Emergency Department for a severe headache associated with torticollis, dysarthria, difficulty in walking and extreme irritability. His past medical history was relevant for bilateral lens ectopia and epilepsy, associated with a “marfanoid habitus”. A brain CT scan was consistent with cerebral venous thrombosis. The association between the marfanoid habitus and the thromboembolic event raised the suspicion of homocystinuria, which was eventually confirmed by the high levels of serum homocysteine, and the genetic testing. Anticoagulation therapy was started, together with pyridoxine and folate, and eventually betaine and dietary protein restriction, with a consequent satisfactory fall in homocysteine levels, along with clinical recovery.Conclusions: This case enhances the importance of dosing serum homocysteine in every child investigated for a marfanoid habitus, given the impact of the early diagnosis and treatment in the prevention of thromboembolic events.

A 14-year-old girl was admitted to our institute with a history of intermittent bilateral ankle swelling, and moderate but progressively worsening pain which has lasted for 2 years. The patient’s history was unremarkable. She did not take medications and was not involved in any sports activity. She reported no fever, gastrointestinal symptoms, fatigue, weight loss, travels abroad or previous infections. She reported moderate pain at night, associated with a sense of heaviness, tightness and general discomfort, and with no response to ibuprofen. Physical examination was remarkable only for bilateral ankle non-pitting oedema, more evident on the left leg, with a thickened skinfold at the base of the second toe, and without redness, swelling or skin warming. The patient had been previously examined, and her foot and ankle X-rays, ultrasound (US) and MRI were all negative. Blood tests (white cell count, C reactive protein, erythrocyte sedimentation rate, albumin, antinuclear antibodies, creatinine, transaminase, creatine kinase, lactate dehydrogenase, thyroid function and glucose) and urinalysis were in the normal range. Her ocular assessment and echocardiogram were also normal. Question 1 Based on the clinical picture and laboratory tests, what is the most likely diagnosis? Deep venous thrombosis. Osteochondritis. Lymphoedema. Juvenile idiopathic arthritis. Question 2 Based on what you see in figure 1, what is the underlying cause? Recurrent bacterial lymphangitis. Primary lymphoedema. Tumour. Filariasis. Figure 1 Lymphoscintigraphy of the lower extremities showing insufficient deep lymphatic circulation in the left leg (red arrow, A) replaced by superficial drainage (B). Question 3 Which is the best diagnostic test to confirm the diagnosis? US scan. MRI. Lymphoscintigraphy. Reassurance and clinical follow-up. Question 4 What is the mainstay of management of this condition? Wait and see. Antibiotic course. Supportive therapy (ie, physical activity, elevation of extremities, pneumatic compression). Surgical intervention. Answers can be found on page 2.

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Background Ogilvie’s syndrome is described in the adult population, but rarely seen in children. Case presentation We present a case of a girl who suffered acute colonic pseudo-obstruction after laparoscopic appendectomy. Conclusions Ogilvie’s syndrome, although rare in the pediatric population, should be considered as possible diagnosis after a surgical procedure in presence of persisting subocclusive symptoms and radiological signs of massive colonic dilatation without mechanical obstruction.

The present retrospective observational study on thirty children with Sydenham chorea shows that steroid treatment seems to be more effective than symptomatic treatment in both clinical remission and clinical improvement of symptoms.

No abstract available

Background Sydenham’s chorea is a major and delayed manifestation of acute rheumatic fever [1] and is considered to be a prototype of an autoimmune disorder triggered by an infectious agent. Aside from conventional symptomatic treatment (carbamazepine, valproate, neuroleptics), the use of steroids has also been advocated, mainly in severe, drug-resistant cases or if clinically disabling side effects develop with first line therapies. However the evidence of corticosteroids efficacy is weak. Objectives To describe the efficacy of corticosteroids therapy versus standard therapy in children affected by Sydenham’s Chorea in a cohort of Italian patients with acute rheumatic fever (ARF). Methods A retrospective observational study was conducted. The hospital records for all children diagnosed as having ARF between January 2007 and December 2017 in the Pediatric Rheumatology Division of the Meyer Children Hospital (Florence) and IRCCS Burlo Garofolo (Trieste) were reviewed. The diagnosis of ARF was made by pediatric rheumatologists and all the children discharged with a ICD 9 code consistent with ARF were included. For the purpose of the study only patients with Sydenham’s Chorea were enrolled. Files were analyzed for demographic data, clinical and laboratory findings on admission and during the hospital stay and patients with incomplete information were excluded. Time and resolution of choreic symptoms were evaluated in consideration of presence or absence of corticosteroid therapy. Results Thirty patients were enrolled; 23 out of 30 (76%) had generalized chorea. 15 (50%) were treated with prednisone (2 mg/kg/day in a single administration per day for 14 days before tapering), 11 (36.6%) were not treated with medications and 4 (13.3%) received pimozide or sodium valproate. We considered together patients who did not receive any specific therapy for chorea and patients who received only symptomatic anti-chorea drugs (pimozide in 3 cases and sodium valproate in 1 case). Therefore we obtained two groups of 15 participants each: “Prednisone group” and “Standard therapy group”. The time required for clinical improvement in the two groups appeared statistically different (P = 0.002). In “Prednisone group” the median time for improvement was 4.0 days (interquartile range: 3) whereas in “Standard therapy group” it was 16.0 days (interquartile range: 16). Furthermore, the “Prednisone group” had a median remission time of 30.0 days (interquartile range: 34) whereas “Standard therapy group” presented a median remission time of 135.0 days (interquartile range: 309) (P Conclusion Our study shows that corticosteroid therapy is associated with a faster resolution of Sydenham’s Chorea’s symptoms compared to treatments considered of first line, such as: no therapy, valproate or pimozide. Disclosure of Interests Elena Favaretto: None declared, Giulia Gortani: None declared, Gabriele Simonini Grant/research support from: Abbvie, Speakers bureau: Abbvie, Serena Pastore: None declared, Rolando Cimaz: None declared, Alberto Tommasini: None declared, Andrea Taddio: None declared

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Unarousable child with short bowelA 4-year-old boy was admitted with progressive lethargy of a few hours’ duration and no other symptoms. His medical history was relevant for short bowel syndrome (SBS), following neonatal volvulus, with residual bowel length of 23 cm and intact ileocecal valve. He had similar self-limiting episodes in the past, after weaning parenteral nutrition, especially after eating large meals. The day before, he had consumed a large amount of apples.Arterial blood gas (ABG) analysis showed metabolic acidosis with normal lactacidaemia (pH 7.09, pCO2 19 mm Hg, pO2 101 mm Hg, HCO3 5.8 mmol/L, BE −24, anion gap 29.4, chloride 116 mmol/L, L-lactate level 4 mmol/L).On admission, the child could be awakened, but he was confused with slurred speech (Glasgow Coma Scale 14), with a body temperature of 37 C°, a heart rate of 125 beats/min and a respiratory rate of 38 breaths/min. The abdomen was distended, without guarding and with normal bowel sounds. Blood glucose levels were normal, as well as white blood cell count, liver and kidney function test and C reactive protein. An abdominal ultrasound ruled out an intussusception. An abdominal X-ray was performed too (see figure 1).Figure 1Abdominal distension with gas and bloating.QuestionsWhich is the most likely diagnosis?EncephalitisD-lactic acidosisDehydration with third space fluid collection and acidosisHereditary fructose intolerance.How is this diagnosis confirmed?D lactic dosageBreath test for bacterial overgrowthUrine organic acid dosageSearch for reductive substances in the stools.How should this patient be managed?Intravenous fluids to facilitate D-lactic excretionRestrict carbohydrates in the dietIntravenous bicarbonatesAntibiotic treatment to reduce bowel bacterial overgrowth.Answers can be found on page 2.

Osteogenesis imperfecta (OI) is a hereditary bone disease characterized by decreased bone density and multiple fractures, usually inherited in an autosomal dominant manner. Several gene encoding proteins related to collagen metabolism have been described in some cases of autosomal recessive OI (including CRTAP, LEPRE1, PPIB, FKBP65, SERPINF1, BMP1, WNT1, FKBP10). Recently, TMEM38B, a gene that encodes TRIC-B, a monovalent cation-specific channel involved in calcium flux from intracellular stores and in cell differentiation, has been associated with autosomal recessive OI. Here, we describe the second deletion-mutation involving the TMEM38B gene in an 11 year-old Albanian female with a clinical phenotype of OI, born to parents with suspected consanguinity. SNP array analysis revealed a homozygous region larger than 2 Mb that overlapped with the TMEM38B locus and was characterized by a 35 kb homozygous deletion involving exons 1 and 2 of TMEM38B gene.

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Hughes-Stovin Syndrome (HSS) is a very rare clinical disorder characterized by pulmonary artery aneurysms and peripheral venous thrombosis. Typical symptoms are recurrent fever, chills, haemoptysis and it usually affects young men. The natural course of the illness is usually fatal because of fulminant haemoptysis. The aetiology of Hughes-Stovin syndrome is still unknown; however it is supposed to be a clinical variant manifestation of Behcet disease.

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We report a case of Klebsiella oxytoca sepsis as a complication of nonperforated appendicitis in an 11-year-old immunocompetent boy. Even if septicemia is not mentioned in major reviews as a complication of nonperforated appendicitis, several cases have occasionally been reported in adult patients in the literature. The pathogenesis of sepsis with nonperforated appendicitis is still not clear, but a mechanism of bacterial translocation has been taken into account to explain the spread of microorganisms from the intestinal lumen to the systemic blood stream. Clinicians should therefore be aware of this occurrence.

We appreciated the report by Casado et al. regarding sedation for intra-articular corticosteroid injections (IACI) in juvenile idiopathic arthritis (JIA) [2]. However we cannot share their conclusions since they compared Sevoflurane sedation with no sedation, without considering other possible approaches. In our institute, non-anesthesiologists-administered propofol (NAAP) and nitrous oxide (N2O) are routinely used for sedation for IACI. The safety and efficacy of NAAP in defined settings after proper training and patient selection is reported in literature [3]. In the period between 2000 and 2013 in our institute, 461 patients underwent IACI with NAAP without any relevant complication. Inhaled N2O has also been shown to provide effective and safe sedation for JIA children undergoing IACI [1]. Since 2012, N2Owas offered by us to children older than 6 scheduled for joint injection. We performed 43 procedures in 35 patients (median age, 11 years; range, 6–18). Premedication with oral midazolam (0.5 mg/kg) was used in 23/35 patients. All patients completed a visual analogue pain scale (VAS; 0–10 cm) immediately after the procedure and after 30 and 60 min. Ramsay score and recall of the procedure were used to assess the level of sedation. Median Ramsay score was 2 (range, 1–3), corresponding to a quiet and collaborating patient. No pain (VAS 0) was reported in 27/35 patients immediately after the procedure and in 28/35 patients after 60 min. Median reported VAS was 4 (range, 0–10) immediately after the procedure, 3 after 30 min (range, 0–8) and 1.5 after 60 min (IQR, 1–2.5; range, 0–7). Vomiting occurred in one patient. No other adverse event was observed. Six out of 35 patients had memory of the procedure. Avoidance of pain and discomfort during hospitalization is a priority for children with chronic illness: procedural sedation, either deep or moderate, can be safely performed in JIA children by trained pediatricians and should be considered as a standard of care.

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A 13-year-old girl presented at our hospital with a 3-month history of nasal obstruction, headache, hearing loss and severe weight loss. She also had nasal obstruction with occasional bleeding and a persistent ‘nasal twang’. These symptoms had previously been referred to as chronic sinusitis. Oral inspection showed a bulging soft palate (figure 1) and nasal examination by anterior rhinoscopy detected a soft mass totally obstructing choanae. No cervical lymphadenopathy was palpable. Blood examination showed leukocytosis, elevated C-reactive protein and …

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare inflammatory disorder that primarily affects children. Its hallmark is recurring episodes of sterile osteomyelitis. The clinical presentation is insidious bone pain with or without fever. Pathogenesis is still unknown and there is no any effective treatment.