Two Familial Neurofibromatosis Cases With Different Phenomenic Characteristics

Abstract

Scientific BACKGROUND: Neurofibromatosis is an autosomal dominant genetic disease which affects skin, nervous system and eyes. Neurofibromatosis has two frequently seen subtypes which are called Type 1 (Von Recklinghausen disease: periferal neurofibromatosis) and Type 2. Type 1 is characterized with cafe au lait spots, periferal neurofibroms, Lisch nodules and axillar freckles. Type 2 is central neurofibromatosis which appears with bilateral acoustic neurinoms with slightly cutaneous changes around twenty years old. Convulsive disorders are seen in about 5% of patients.

OBJECTIVE: We emphasized the importance of early diagnosis and genetic counseiling on epilepsy.

CASE: We examined two cases that belong to the same family with definitively clinical diagnosis on neurofibromatosis type 1. The mother had amnesia, dermal invasion, forgetfulness, Lisch nodules and no family history. Her daughter had learning disability, dermal invasion, and refractory epilepsy.

CONCLUSION: We considered genetic transmission which was possible mutational transmission for mother and autosomal dominant transmission for daughter. We emphasized that there may be different clinical features in the same family.