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Coexistence of Two Rare Genetic Disorders: Familial Mediterranean Fever and Neurofibromatosis Type 1 in a Child

2015

Journal:

Cukurova Medical Journal

Author:

DOI:

10.17826/cutf.36688

Abstract:

Familial Mediterranean fever (FMF) is an autosomal recessive polysystemic disease characterized by attacks of relapsing and self-limiting fever, peritonitis, pleuritis and arthritis. Café-au lait macules, neurofibromas, axillary and inguinal freckling, Lisch nodules, bone lesions such as sphenoid dysplasia, and optic glioma are the characteristic features of neurofibromatosis type 1 (NF1) disease. In this case report, a 7 year-old girl with NF1 and FMF is presented. She had intermittent fever, abdominal and joint pain attacks lasting 2-3 days every two-three months since 1 year. We detected many cafe-au lait spots and axillary freckles on her body and diagnosed FMF and NF1.

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Cukurova Medical Journal

Field : Sağlık Bilimleri

Journal Type : Uluslararası

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Article : 2.296

Cite : 1.845

2023 Impact : 0.075

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Mendeley

Endnote

Coexistence of Two Rare Genetic Disorders: Familial Mediterranean Fever and Neurofibromatosis Type 1 in a Child

2015

Journal:

Cukurova Medical Journal

Author:

DOI:

10.17826/cutf.36688

Abstract:

Keywords:

Citation Owners

Information: There is no ciation to this publication.

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Cukurova Medical Journal

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