Journal of Child Neurology

 

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Journal of Child Neurology, Vol. 19, No. 5, 392-394 (2004)
DOI: 10.1177/088307380401900515

Familial Segmental Neurofibromatosis

Sibel Oguzkan

Department of Medical Biology University of Hacettepe Ankara, Turkey

Mine Cinbis

Department of Pediatric Neurology University of Hacettepe Ankara, Turkey

Sükriye Ayter

Department of Medical Biology University of Hacettepe Ankara, Turkey

Banu Anlar

Department of Pediatric Neurology University of Hacettepe Ankara, Turkey

Sabiha Aysun

Department of Pediatric Neurology University of Hacettepe Ankara, Turkey

Segmental neurofibromatosis is considered to be the result of postzygotic NF1 gene mutations. We present a family in which the proband has generalized neurofibromatosis 1, whereas members of previous generations manifest segmental skin lesions. All, including the clinically asymptomatic grandmother, carry the same haplotype. This is the only case in the literature in which a parent with segmental skin findings has a child with full-blown neurofibromatosis 1 disease. The genetic mechanisms underlying this association are discussed. This family can be further investigated by examination of tissue samples from affected and unaffected sites for mutations. (J Child Neurol 2004; 19:392-394).


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