Neurological and Psychological Assessment of Neurocutaneous Syndromes in Upper Egypt Children

Neurocutaneous syndromes (NCS) are heterogeneous group of disorders characterized by abnormalities of both the integument and central nervous system. Most of the disorders of NCS are inherited as autosomal dominant conditions and originated from a defect in differentiation of the primitive ectoderm.NCS include Neurofibromatosis1 (NF1), Tuberous Sclerosis (TS), Sturge Weber Syndrome (SWS), von Hippel-Lindau disease (VHL), Pascual-Castroviejo type II syndrome (PHACE syndrome), Ataxia telangiectasia (AT),Linear Nevus Syndrome (LNS), hypo melanosis of Ito and Incontenintia Pigmenti(IP), Xeroderma pigmentosa (XP). Among them the most common disorders areNF, TS complex and SWS. These lifelong disorders generally present during infancy and early childhood..These disorders are characterized clinically by neurological manifestations as convulsions, mental retardation and learning disabilities.

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that is diagnosed from birth to adulthood.TSC is characterized by growth of non-malignant hamartoma in various organs throughout the body.

The majority of individuals with Tuberous sclerosis have mutations in either the TSC1 orTSC2 genes.

Most common manifestations of Tuberous sclerosis are multiple type of seizures and various organ involvement.

Epilepsy is very common in people living with Tuberous Sclerosis Complex (TSC), with around 8 in every 10 children with Tuberous Sclerosis also experiencing epilepsy.Epilepsy in Tuberous Sclerosis often begins during the first year of life and,in most cases, in the first month. At this time the most common types of seizures are partial motor seizures and infantile spasms.