Abstract

IFAP syndrome is an extremly rare congenital disorder with x linked transmission. It is characterized by triad of Icthyosis Follicularis, Atrichia of the scalp, and Photophobia. Objective: To report a new case of IFAP Syndrome with corpus callosum atrophy. Patient and methods: An 11 year old male child issue of cansanguineous marriage with similar case in the family. He presented clinically severe psychmoteur retardation,with an inability to speak, generalized seizures, alopecia and photophobia MRI Brain showed Corpus Callosum atrophy. Diagnosis of the IFAP syndrome is based on the clinical features and the presence of mutation in the MBTPS2 gene.

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