C Ambonville1, M-A Bouldouyre2, P Laforêt3, P Richard4, O Benveniste5, C Vigouroux6. 1. Service d'endocrinologie, diabétologie et maladies métaboliques, centre hospitalier intercommunal Robert-Ballanger, 93603 Aulnay-sous-Bois, France. 2. Service de médecine interne et maladies infectieuses, centre hospitalier intercommunal Robert-Ballanger, 93603 Aulnay-sous-Bois, France. Electronic address: marie-anne.bouldouyre@ch-aulnay.fr. 3. Centre de référence pathologie neuromusculaire Paris Est, groupe hospitalier Pitié-Salpétrière, AH-HP, 43-87, boulevard de l'Hôpital, 75013 Paris, France. 4. Unité fonctionnelle de cardiogénétique et myogénétique moléculaire et cellulaire, service de biochimie métabolique, hôpitaux universitaires Pitié-Salpétrière Charles-Foix, AP-HP, 43-87, boulevard de l'Hôpital, 75013 Paris, France. 5. Département de médecine interne et immunologie clinique, centre de référence des maladies rares, pathologies du muscle inflammatoire, groupe hospitalier Pitié-Salpétrière, AP-HP, 43-87, boulevard de l'Hôpital, 75013 Paris, France. 6. Service d'endocrinologie et laboratoire commun de biologie et génétique moléculaires, hôpital Saint-Antoine, AP-HP, 75012 Paris, France; Inserm UMR_S938, centre de recherche Saint-Antoine (CRSA), ICAN, institut de cardio-métabolisme et nutrition, Sorbonne universités, UPMC université Paris 6, 75012 Paris, France.
Abstract
INTRODUCTION: 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. CASE REPORT: 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.82C>T, p.Arg28Trp mutation. CONCLUSION: 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.
INTRODUCTION: 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. CASE REPORT: 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.82C>T, p.Arg28Trp mutation. CONCLUSION: 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.