Abstract A girl, aged 1 year and 9 months, was found to have hypertriglyceridemia in the neonatal period, with unusual facies and signs of dark skin all over the body, disappearance of subcutaneous adipose, acanthosis nigricans of the neck, excessive and thick hair, empty cheeks, muscle hypertrophy of the extremities, hepatomegaly, and neutrophil deficiency. Whole exome sequencing of monogenic disorder revealed a homozygote mutation in the BSCL2 gene, c.974 (exon 7)_c.975 (exon 7) insG. Her parents were heterozygotes for this locus. The girl was diagnosed with congenital generalized lipodystrophy (CGL), but the association between CGL and neutrophil deficiency remained unclear. Triglyceride was maintained at a normal level after the treatment with a low-fat and high-carbohydrate diet, and there were no obvious changes in signs. CGL is a rare autosomal recessive systemic disease manifested as disappearance of systemic subcutaneous adipose, muscle hypertrophy of the extremities, and metabolic disorders in the neonatal period, such as high triglycerides, hyperinsulinemia, and hyperglycemia. About 95% of CGL cases are caused by mutations in the AGPAT2 or BSCL2 gene.
YIN Ze-Xi,HE Xiang-Ling,ZOU Run-Ying. Unusual facies and recurrent high triglycerides for more than one year in a girl[J]. CJCP, 2018, 20(12): 1050-1054.
YIN Ze-Xi,HE Xiang-Ling,ZOU Run-Ying. Unusual facies and recurrent high triglycerides for more than one year in a girl[J]. CJCP, 2018, 20(12): 1050-1054.
Haque WA, Shimomura I, Matsuzawa Y, et al. Serum adiponectin and leptin levels in patients with lipodystrophies[J]. J Clin Endocrinol Metab, 2002, 87(5):2395.
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Windpassinger C, Auer-Grumbach M, Irobi J, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome[J]. Nat Genetics, 2004, 36(3):271-276.
