Multidisciplinary approach for evaluation of neurocutaneous disorders in children in Sohag University Hospital, Upper Egypt

Abdelrahim A Sadek,Sahr N Abdel Samad,Mohammed A Bakheet,Ismail A.A Hassan,Wafaa M Abd El-Mageed,Ahmed M Emam

doi:10.1016/j.ejmhg.2015.02.003

Abdelrahim A Sadek, Sahr N Abdel Samad + Show 4 more

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https://doi.org/10.1016/j.ejmhg.2015.02.003

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Abstract

BackgroundNeurocutaneous 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 studyThis 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 methodsAll 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. ResultsDuring 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. ConclusionNeurocutaneous disorders had multiple clinical presentations and required a team work approach including various specialties in their evaluation and management.

Highlights

Neurocutaneous syndromes are a broad term for a group of neurologic disorders that involve the nervous system and the skin
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
It was found that tuberous sclerosis cases were 12 cases (44.45%) constituting the majority of the cases followed by neurofibromatosis, and xeroderma pigmentosum were detected in four cases (14.82%) for each

Summary

Introduction

Neurocutaneous syndromes 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 neurofibromatosis type 2 (NF-2), tuberous sclerosis (TS), Sturge–Weber syndrome (SWS), ataxia telangiectasia (AT), and Von Hippel Lindau disease (VHL) [1]. 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)

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