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Wilson’s disease (WD) is an autosomal recessive genetic disorder that leads to the impairment of cellular copper metabolism. Clinical presentation is heterogeneous, with predominantly hepatic, neurological and psychiatric manifestations. Acute decompensated WD presenting as fulminant liver failure is a life-threatening condition for which liver transplantation is the ultimate treatment. 14-year-old girl presented with acute abdominal pain and peripheral oedema lasting two weeks before onset of abdominal pain. On initial examination, patient was febrile, complaining of periumbilical pain, dyspnea, cough, presenting with anasarca, extensive limb oedema and ascites (gained 17 kg), without encephalopathy. Laboratory evaluation revealed Coombs-negative haemolytic anaemia (Hb 101 g/L, Rtc 125x109/L), thrombocytopenia (79x109/L), leukocytosis (19.27x109/L), mildly elevated inflammatory markers, hypergammaglobulinemia (IgG 21.7g/L) with reduced complement components (C3 0.24g/L, C42.5), marked hypoalbuminemia (>15 g/L), mildly elevated bilirubin (49 µmol/L), slightly elevated liver enzymes (AST 63 U/L, GGT 98 U/L), borderline serum ammonia (52.3 µmol/L), normal ALT and alkaline phosphatase. Abdominal ultrasound showed large amounts of ascites, with mildly enlarged, structurally altered liver (irregular surface, nodular parenchyma) and splenomegaly, with no signs of hepatic vein thrombosis on Color Doppler and MRI. Heart ultrasound was normal. Kayser- Fleischer ring was negative on slit lamp examination. Viral serology (HAV, HBV, HCV, HEV, EBV, CMV, and Parvo B19) was negative as well as autoantibodies (ANA, SMA, LKM, ANCA, anti dsDNA). Serum alpha-1 antitrypsin level was normal. Diagnosis of Wilson’s disease was practically confirmed after demonstrating pronounced cupriuria (17.8 µmol/24h) ; serum ceruloplasmin was low (0.13 g/L) and serum copper levels slightly reduced (10.1 umol/L). Initial treatment was supportive (albumin infusions, vitamin K, fresh frozen plasma, diuretics, lactulose, antibiotics). Liver transplant was considered (on admission MELD score 24, King’s Wilson index 12 ; on day 10 MELD score 18, King’s Wilson index 8). The decision was made to attempt plasma exchange over three days and introduce penicillamine. The patient improved clinically, tolerated penicillamine well and was released subsequently after 34 days of hospitalization and five plasma exchanges overall. Liver synthetic function completely normalized few months later. Genetic analysis of ATP7B gene (H1069Q mutation) confirmed presence of the H1069Q mutation on one allele. We presented a patient suffering from WD in whom the disease presented acutely with development of liver failure with near-normal values of liver enzymes, mild hyperbilirubinemia, markedly impaired synthetic liver function and Coombs-negative haemolytic anaemia. Acute liver failure in WD may be successfully managed with plasma exchange therapy.

AIM: In approximately 30% of patients with epilepsy pharmacological treatment is ineffective. Focal cortical dysplasia (FCD), a congenital abnormality of cortical development, is among the most common etiologies of intractable epilepsy (IE) in the pediatric population. Epilepsy surgery offers the potential to render these patients seizure free, reduce antiepileptic medication as well as their associated side effects and improve their cognitive outcome. However, FCD is one of the most challenging lesions to identify on imaging and successful outcomes in epilepsy surgery, are in part dependent upon identification of a lesion on Magnetic Resonance Imaging (MRI). We report a case of an 11 years old girl with IE due to FCD type IIIb, which is after surgical treatment seizure free. MATERIALS AND METHODS: Our patient has been suffering from epilepsy since her early infancy. Her attacks were partial with complex symptomatology and occasional generalization. She had focal changes in the EEG in the right centrotemporal region. Three brain MRI were described as normal. In December of 2016, her attacks have intensified. Despite the combination of five antiepileptics, she had sometimes more than one hundred attacks per day. On the fourth brain MRI, in February 2017, FCD was suspected in the precentral and postcentral gyrus of the right hemisphere. Soon after, she was operated and pathohistological diagnosis of resected tissue was FCD type IIIb (cortical lamination abnormalities adjacent to ganglioglioma). RESULTS: Postoperatively she developed a hemiplegia, but now after 1.5 year of physical therapy she has only a mild hemiplegia and she is completely seizure free with only one antiepileptic drug- levetiracetam. Her cognitive abilities are preserved and she finished the third grade of elementary school with excellent success. CONCLUSION: Despite the diversity of medicamentous antiepileptic therapy, in well-chosen patients, a surgical procedure can have a life-changing effect.

INTRODUCTION: Idiopathic intracranial hypertension (IIH) or pseudotumor cerebri is disorder characterized by increased intracranial pressure, without any obvious underlying cause. Most common symptoms are headache and vomiting, most prominent sign is n. abducens palsy, while fundoscopy reveals papilledema. Treatment is usually conservative, but in serious cases surgical intervention is required, mostly in form of shunting. METHODS: We present a patient in whom IIH occurred after upper respiratory tract infection with mastoiditis that lead to compression of cavernous sinus. Despite polyvalent medicamentous treatment and repeated lumbar punctures, patient had to underwent lumbo-peritoneal shunting which lead to complete remission of symptoms. Two years later control MRI showed development of pseudo-Chiary, protrusion of cerebellar tonsils for 25 mm, which was interpreted as sign of shunt hyperfunction. Patient underwent decompression of posterior fossa, which led to short relief, but soon after uncal herniation appeared, while LP shunt was no longer visible. At that moment patient was in life threatening condition, with high intracranial pressure, severe papilledema and retinal bleeding. Finally, ventriculoperitoneal shunting was performed, but after initial regression of symptoms, headaches and nausea reoccurred. MRI of LS region showed pseudomeningocele at place of former LP shunt. Since last procedure of LS dural plastic, patient is without any symptom for three years now. CONCLUSIONS: Headache is very common symptom, but also can be a sign of life threatening condition of increased intracranial pressure. Targeted neuroradiological examination is important in diagnostic of IIH, and if disorder does not resolve on conservative treatment, surgical intervention is mandatory, despite all possible complications.

Schizencephaly exposed at microsurgical operation of congenital Sylvian arachnoid cyst in a pediatric patient

Diastematomyelia, or cleft spinal cord, is a rare form of spinal dysraphism. In this work, we present the case of surgical treatment of a 2-years-old female child with progressive walk deterioration and trunk asymmetry. Neuropediatric and orthopedic assessment was performed. MR of spinal canal revealed split spinal cord at L1-L3 level, with two separated hemicords each in separate dural and arahnoid sacs, with midline bony septum at L3 level, that completely divided spinal canal. Low position of medullary conus at S1 level was associated with tight filum.