الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
Multiple organ systems are affected by neurofibromatosis type 1 (NF1), an autosomal dominant disorder with a wide range of varied clinical symptoms. It is brought on by heterozygous mutations in the 17q11.2 locus of the NF1 tumor suppressor gene. Its byproduct, neurofibromin, belongs to the class of GTPase-activating proteins and exhibits a variety of biochemical interactions. Affected individuals have variable clinical manifestations including cutaneous, skeletal, tumors, and other neuropsychological manifestations.
This work aimed to have more insight into the phenotypic characteristics of a cohort of Egyptian children and adolescents with neurofibromatosis type 1 to improve the care given to these children.
This cross-sectional study was conducted over six-month duration on fifty children, their age below eighteen years old, diagnosed with neurofibromatosis type 1 according to new NIH criteria attending at Alexandria University Children’s Hospital (Elshatby) and Borg Elarab Hospital.
The included children were studied as regards their phenotypic characteristics also as regard their oncological and molecular characteristics. TAND Checklist was utilized as a screening tool for intellectual, academic, behavioral, psychiatric, neuropsychological, and psychosocial manifestations.
There was no gender predilection within the examined casas. The prevalence of macrocephaly was (4%), short stature (14%), underweight (14%).
A large number of the examined children (42%) showed developmental delay in different milestones, and also considerable percentage showed learning disabilities (40%) and intellectual disabilities (26%). The incidence of epilepsy (14%), headache (34%), and hydrocephalus (8%) are also higher.
They are more vulnerable to tumors, especially of the nervous system including optic pathway gliomas (26%), neurofibromas (10%), and plexiform neurofibromas (2%).
Of the studied cases; genetic testing performed for 36 children, 26 of them showed positive results, 5 showed negative results, and 5 showed inconclusive results (needing further investigations).
All examined children showed the presence of café au lait macules, (82%) had axillary and inguinal freckling, (10%) had neurofibromas, (2%) had plexiform neurofibromas. Optic pathway gliomas found in (26%) of examained children. (20%) of children showed the presence of iris Lisch nodules. (36%) of children were with parents diagnosed with the same condition.