| Autor: |
C, Ambonville, M-A, Bouldouyre, P, Laforêt, P, Richard, O, Benveniste, C, Vigouroux |
| Jazyk: |
francouzština |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
La Revue de medecine interne. 38(10) |
| ISSN: |
1768-3122 |
| Popis: |
Laminopathies (diseases related to A/C mutations of lamines) are rare genetic diseases with an extensive phenotypic spectrum, including lipodystrophic syndromes-characterized by a selective loss of adipose tissue-of which the partial Dunnigan family type is the most frequent.We report on a 55-year-old woman with diabetes and long-term disabling myalgia. Her cushingoid morphotype, associated with cutaneous lipo-atrophy and muscle hypertrophy in addition to a genetic heritage, led us to the diagnosis of complex partial familial lipodystrophy heterozygous LMNA_c.82CT, p.Arg28Trp mutation.Familial partial lipodystrophic syndromes may have varied phenotypes, mainly cardio-metabolic, which could mimic a particularly severe type 2 diabetes. The diagnostic work-up of this disease has to include a careful investigation of gait troubles and paroxysmal conduction that could lead to sudden death, as well as a genetic examination. In some cases, recombinant leptin can be proposed. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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