Abstract Background: Neurocutaneous syndromes (NCS) are a broad term for a group of neurologic
disorders that involve the nervous system and the skin. The most common examples are neurofibromatosis
type 1 (NF-1) and type 2 (NF-2), tuberous sclerosis (TS), Sturge–Weber syndrome
(SWS), ataxia telangiectasia (AT), and Von Hippel Lindau disease (VHL). These disorders are characterized
clinically by neurological manifestations such as convulsions, mental retardation and
learning disabilities in addition to cutaneous manifestations, and lastly tubers (benign growths
found in different organs of the body).
Aim of the study: This study aimed to identify clinical, imaging, and neurophysiological profiles
of neurocutaneous disorders. Children presented to the Pediatric neurology and Dermatology clinics,
Sohag University Hospital who fulfilled the criteria for diagnosis of specific neurocutaneous
syndromes were eligible for this study.
Patients and methods: All studied patients were subjected to thorough clinical history, full clinical
examination, developmental assessment, and dermatological examination. Computed tomography
of the brain (CT) and electroencephalography (EEG), ophthalmic, and phoniatric evaluation
were also done for all children. Echocardiography was done for only twenty children.
Results: During the period of the study we diagnosed 27 cases with neurocutaneous disorders,
tuberous sclerosis represented the majority of cases as it was detected in 12 cases (44.45%). The
main complaint was convulsions in 19 cases (70.37%), whereas skin pigmentation was detected
in 18 cases (66.66%). Developmental assessment showed that global developmental delay was
found in 20 cases (74%). CT of the brain showed that 15 cases (55.55%) had intracranial calcifications
and abnormal EEG findings were detected in 23 cases (85.2%). 85% of the studied children
had various degrees of mental retardation. Echocardiography showed that three cases (15%) had
ventricular wall tumor mostly rhabdomyoma.