Abstract:

Objective To analyze the clinical characteristics and the follow-up situation of a patient with congenital generalized lipodystrophy (CGL) carrying BSCL2 mutation, and to draw attention to the phenotype and genotype of patients with CGL. Methods Physical examination, laboratory tests, ultrasonic examination and the 5-year follow-up situation of the patient with CGL was collected, 2 742 genes of inherited diseases including CGL related genes of the patient and his parents were sequenced, and relevant literatures about BSCL2 mutations were reviewed. Results The 5-year and 11-months boy was presented with blotting, poor weight gain for 11 months. He was full term delivered vaginally with no perinatal complications. He could raise his head at 5-month old and could walk with support at 1-year old. He appeared blot and "thin" since 1-month of age, generalized lack of body fat with extreme muscularity since 2-month of age, skin pigmentation especially in neck and armpit at 3-4 months of age, and body hair grew gradually at 5-6 months of age. Physical examination: he had abnormal face with empty cheeks, generalized lipoatrophy with absence of adipose tissue, hypertrophy of all limb muscles with prominent superficial veins, and generalized skin pigmentation especially in neck and armpit. Abdomen examination showed distension, hepatomegaly, without splenomegaly or abdominal shifting dullness. There was no special of cardiopulmonary or neurological examination. Wechsler Intelligence Scale for Children Test revised for Chinese of the patient was 72. Perineal examination showed a macropenis with 5 cm in length, testes were 3 mL in bilateral and pubic hair was Tanner 2. No similar condition was found in other members of his family. He was diagnosed as CGL and treated with low-fat, high-carbohydrate diet, oral glucose tolerance test showed impaired glucose tolerance and he was treated by diet. BSCL2 gene of the patient showed a compound heterozygous mutation: missense mutation c.713G> A, p.Gly238Asp from paternal; nucleotide repeat c.782dupG, pIle262Hisfs* 12 from maternal. A literature review of the clinical phenotypes of CGL due to BSCL2 gene mutation was performed, which showed generalized lipoatrophy with absence of adipose tissue, hypertrophy of all limb muscles with prominent superficial veins, acromegaly, hairy, skin pigmentation, hyperinsulinemiathe, hypertriglyceridaemia hepatomegaly, splenomegaly, hepatic steatosis, liver dysfunction and cardiomyopathy. Conclusion Patients with CGL are rare, genetic sequencing should conducted in children presented with generalized lack of adipose tissue. The metabolic conditions should be closely followed-up since genetic diagnosis. One of the mutations c.713G>A, p.Gly238Asp in the BSCL2 gene of this patient is a novel mutation, which has not been reported so far.