CLINICAL CHARACTERISTICS, TYPES OF EPILEPSY, ELECTROPHYSIOLOGICAL PROFILE AND NEUROIMAGING FEATURES OF NEUROCUTANEOUS SYNDROME: EXPERIENCE IN A TERTIARY CARE HOSPITAL

Abstract

Introduction: Neurocutaneous syndromes encompass a collection of disorders in which distinctive alterations in the skin are observed, alongside abnormalities in the central nervous system, and by consequences ae at risk of epilepsy and other accompanying conditions in future.

Methodology: The study was conducted at Department of Pediatric Neurology, Children’s Hospital Lahore, Pakistan from March, 2022 to September 2022. Children from either gender, from 1 month to 15 years with neurocutaneous syndrome, diagnosed on the basis of diagnostic standard criteria for different neurocutaneous syndromes, were enrolled. A comprehensive clinical history, examination, neuroimaging, electroencephalography (EEG) were taken into account.

Results: Out of 33 children with neurocutaneous syndrome, 51.5% (17) were females with mean age of 46±42.59 months. The majority of age group belongs to 1 to 5 years, represents 45.5% of the total entitled patients. According to neurocutaneous findings distribution, 60.6% (20) had tuberous sclerosis, while 18.2% (6) Sturge-Weber syndrome and Neurofibromatosis type-1 equally observed and 3% (1) had ataxia telangiectasia. The clinical features include seizures in 90.9% (30), predominantly generalized tonic clonic seizures in 51.5% (17). While the hypopigmented patches 33.3% (11) was the most common cutaneous finding.  Most common EEG recordings were Generalized epileptiform discharges 51.5% (17), while the frequently observed Neuroimaging findings were Subependymal nodules in 30.3% (10).

Conclusion: Neurocutaneous syndromes encompass a multitude of different clinical presentations, with epilepsy being the most common manifestation. Skin lesions can serve as an early detectable indicator to ascertain the cause of epilepsy aiding in reaching a definitive diagnosis.