[Congenital generalized lipodystrophy: a case report with neurological involvement].
Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by near complete absence of adipose tissue from birth. At least 2 genes located in 9q34 (AGPAT2) and 11q13 (Seipin) are implicated in type 1 and 2, respectively, and result in insulin resistance. We report here a novel case of CGL type 1 resulting from a novel homozygote mutation in the AGPAT2 gene. The clinical picture included pseudoathletic muscular hypertrophy, hypertrophic cardiomyopathy, enlarged liver, hypermetabolism rate, and hyperinsulinemia in a 1-year-old child from Libya. Peripheral hypertonia and reflex excitability revealed signal abnormalities in white matter on magnetic resonance imagery, which has not been described previously in the literature.
Ben Turkia
H
H
Service de pédiatrie, hôpital La-Rabta, Jebbari, Tunis, Tunisie. hadhami.baili@laposte.net
Tebib
N
N
Azzouz
H
H
Abdelmoula
M Slim
MS
Ben Chehida
A
A
Hubert
P
P
Douira
W
W
Ben Dridi
M F
MF
D000293:Adolescent; D000367:Age Factors; D001927:Brain Diseases / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007333:Insulin Resistance; D052497:Lipodystrophy, Congenital Generalized / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010641:Phenotype; D013997:Time Factors; D016896:Treatment Outcome