Neurocutaneous melanosis (Rokitansky’s disease) as a rare cause of epileptic seizures in pediatric practice
DOI:
https://doi.org/10.15574/PP.2023.93.87Keywords:
neurocutaneous melanosis, epilepsy, hydrocephalus, orphan diseases, phakomatoses, Dandy-Walker syndrome, congenital malformations, melanoma, genetic syndromesAbstract
Neurocutaneous melanosis is a rare disease belonging to the group of phakomatoses, characterized by the presence of giant melanocytic nevi on the skin and melanocytic infiltration of the parenchyma and meninges, as well as a high risk of neurological complications and malignancy.
Purpose - to analyze the information of modern specialized literature on the etiology, pathogenesis, approaches to diagnosis and treatment of a rare orphan disease - neurocutaneous melanosis (Rokitansky's disease) and to describe clinical cases of this disease.
A review of the scientific literature and a personal case of diagnosis and treatment of two patients are given. In the first case, the clinical history of a boy aged 1 year and 4 months is presented with neurocutaneous melanosis and Dandy-Walker anomaly, complicated by frequent drug-resistant epileptic seizures. In the second case, a description of the medical history of a 14-year-old boy with newly diagnosed neurocutaneous melanosis complicated by progressive obstructive hydrocephalus and generalized tonic-clonic seizures is presented. MRI features deserve special attention, namely specific changes in the T2-weighted mode, which reveals typical areas of hyperintense signal in the brain parenchyma and from the dura mater (leptomelanosis).
It is the neuroimaging data with a high probability that gives reason to assume the correct diagnosis, reducing time and costs for additional examinations. There is no pathogenetic treatment for this disease. For the symptomatic treatment of obstructive hydrocephalus, surgical intervention is used, and in the presence of epileptic seizures, anticonvulsant therapy is used.
Conclusions. The given clinical observation confirms the complexity of the diagnostic search for orphan diseases of the nervous system. Objective examination data and neuroimaging methods (CT and MRI of the brain and spinal cord) play a key role in the diagnosis of neurocutaneous melanosis.
The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies.
No conflict of interests was declared by the authors.
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