Neurocutaneous melanosis (Rokitansky’s disease) as a rare cause of epileptic seizures in pediatric practice

Neurocutaneous melanosis is a rare disease belonging to the group of phakomatoses, characterized by presence giant melanocytic nevi on skin and infiltration parenchyma meninges, as well high risk neurological complications malignancy. Purpose - analyze information modern specialized literature etiology, pathogenesis, approaches diagnosis treatment orphan neurocutaneous (Rokitansky's disease) describe clinical cases this disease. A review scientific personal case two patients are given. In first case, history boy aged 1 year 4 months presented with Dandy-Walker anomaly, complicated frequent drug-resistant epileptic seizures. second description medical 14-year-old newly diagnosed progressive obstructive hydrocephalus generalized tonic-clonic seizures presented. MRI features deserve special attention, namely specific changes in T2-weighted mode, which reveals typical areas hyperintense signal brain from dura mater (leptomelanosis). It neuroimaging data probability that gives reason assume correct diagnosis, reducing time costs for additional examinations. There no pathogenetic For symptomatic hydrocephalus, surgical intervention used, seizures, anticonvulsant therapy used. Conclusions. The given observation confirms complexity diagnostic search diseases nervous system. Objective examination methods (CT spinal cord) play key role melanosis. research was carried out accordance principles Helsinki Declaration. informed consent patient obtained conducting studies. No conflict interests declared authors.