Lipodystrophy and multiple congenital anomalies : a new syndrome? P. Sarda1, J. Puechberty1, L. Pinson1, C. Coubes1, G. Lefort1, P. Blanchet1, L. Van Maldergem2 1) Dept Medical Genetics, Arnaud de Villeneuve Hosp, Montpellier Herault, France; 2) Génétique, Hôpital Henri Mondor Creteil, France.
Lipodystrophies represent a group of diseases characterized by abnormal body fat. Berardinelli-Seip congenital lipodystrophy is a very rare disorder in which congenital generalized lipoatrophy is associated with hepatomegaly, hypertriglyceridemia and acromegaloid features. This disorder follows autosomal recessive inheritance. Two loci have been identified : BSCL1 in 9q34 and BSCL2 in 11q13. At least a third locus must exist. We present what is probably a new syndrome with generalized lipodystrophy in a 14-year-old girl. She was the product of a term pregnancy complicated by intra uterin growth retardation. She presented a small omphalocele (surgically corrected at 6 days), generalized lipoatrophy and dysmorphic traits. Psychomotor development was normal. No cerebral, cardiac, abdominal or skeletal anomalies were noted. At age 6, she underwent surgery for volvulus of the small intestine. Puberty occurred normally. At age 14, the child presented normal weight and height but OFC was at -2.5 SD. Clinically there was severe generalized lipoatrophy. Cardiac examination revealed hyperlaxity of atrio-ventricular valves with mild mitral and pulmonary insufficiency. Skeletal anomalies included arachnodactyly and joint mobility restriction. The child also presented fine skin and cutaneous syndactylies of the fingers. She had dysmorphic traits with brachycephaly, acromegaloid face, dysplastic low-set ears, short philtrum. Intellectual level was normal. Triglyceride serum concentrations were variable. Thoraco-abdomino-pelvic MRI was performed to evaluate fat residue in the event of facial plastic surgery. Images revealed no cutaneous fat in the anterior and lateral planes of the body but a small layer of dorsal fat. Abdominal perivisceral fat was normal. No mutation was found for AGAPT2, BSCL2 and Cav1 genes. Our patient presents a particular lipoatrophic MCA syndrome without mental retardation which is probably a new lipodystrophic syndrome possibly due to a chromosome microanomaly.