Neurofibromatosis type 1 case which has macrocephaly and skeleton anomalies, “ Neuropsychological evaluation”

Abstract

Neurofibromatosis type 1 (NF 1) is a very often emerging neurocutaneous genetic disease. It is originated from the mutation in NF 1 gene which exists in chromosome, number 17 and appears once in 2500-3000 live birth. Also, spontaneous mutation is in charge of about 50% of cases. Endemic clinical features are cafe-au-lait stains on the skin, cutaneous neurofibromas, freckling on cleavages and Lisch nodules. More serious problems which ruin quality of life are plexiform neurofibromas, central neural system tumors, endocrine disorders, orthopedic problems, behavior disorders and cognitive impairment. In addition, a discriminating diagnosis was performed with Proteus syndrome which the asymmetric and progressive extremity hypertrophy could be seen with.In this study, we found appropriate to evaluate a 25 year old male patient with no family history, whose quality of life was seriously spoiled, who had hydrocephaly due to aquaduct stenosis, which created both aesthetic and functional problems in his left hand, who had an asymmetric extremity hypertrophy because of cutaneous neurofibromas and painful hip dysplasias and due to arthropathic neuropathy developed, additionally who was an inpatient with cognitive incompetence in the lights of literature data.