Vol 44, No 3 (2010)

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Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G > A (Arg482Gln) in a Polish family

Hanna Drac12, Agnieszka Madej-Pilarczyk2, Krystyna Gospodarczyk-Szot1, Małgorzata Gaweł1, Hubert Kwieciński1, Irena Hausmanowa-Petrusewicz2
DOI: 10.1016/S0028-3843(14)60044-X
Neurol Neurochir Pol 2010;44(3):291-296.

Abstract

Familial partial lipodystrophy (FPLD) belongs to the family of laminopathies – disorders associated with mutation in the lamin A/C gene (LMNA). FPLD is characterized by loss of subcutaneous adipose tissue from the limbs, trunk and buttocks, with its concomitant accumulation on the face, neck and intra-abdominal region, and by metabolic disorders.

We present the first Polish family with FPLD confirmed genetically. A 34-year-old woman admitted with myalgia and cushingoid appearance was found to have a round face with double chin, neck bump, and loss of fat on extremities. Diagnostic tests revealed impaired glucose tolerance and increased levels of liver enzymes, and ultrasonography revealed hepatic steatosis. Her 9-year-old daughter presented a similar phenotype, but no fat loss. A genetic test revealed the presence of a heterozygous LMNA gene mutation: c.1445G>A, consistent with the “hot spot” for FPLD. Treatment with metformin to improve insulin resistance and address the diabetes proved successful.

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Neurologia i Neurochirurgia Polska