Congenital generalized lipodystrophy, a case report.
Generalized lipodystrophy is a rare condition which can be divided into congenital and acquired types, based on the age at presentation and pattern of inheritance. The congenital type of generalized lipodystrophy or Lawrence-Seip syndrome presents in first two years of life and is inherited in an autosomal recessive pattern. The diagnosis is made on the basis of loss of body fat, muscular hypertrophy, acanthosis nigricans, hirsutism, hepatomegaly with fatty liver, hyperlipidemia and hyperglycemia with insulin resistance. A 2 1/2-year-old Thai girl with the clinical features of Lawrence-Seip syndrome is reported. Abnormal platelet function was detected in this girl.
Wacharasindhu
S
S
Department of Pediatrics, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Veerakul
K
K
Likitmaskul
S
S
Punnakanta
L
L
Angsusingha
K
K
Tuchinda
C
C
Wasant
P
P
D001792:Blood Platelets / Q000502:physiology; D002675:Child, Preschool; D005234:Fatty Liver / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D005934:Glucagon / Q000097:blood; D006801:Humans; D008060:Lipodystrophy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008099:Liver / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009679:Nuclear Family; D010974:Platelet Aggregation; D012016:Reference Values; D013577:Syndrome
D005934:Glucagon