PDF(1620 KB)
Unusual facies and recurrent high triglycerides for more than one year in a girl
YIN Ze-Xi, HE Xiang-Ling, ZOU Run-Ying
Chinese Journal of Contemporary Pediatrics ›› 2018, Vol. 20 ›› Issue (12) : 1050-1054.
PDF(1620 KB)
PDF(1620 KB)
Unusual facies and recurrent high triglycerides for more than one year in a girl
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.
[1] Schott M, Scherbaum WA, Bornstein SR. Acquired and inherited lipodystrophies[J]. N Engl J Med, 2004, 351(1):103-104.
[2] Kazandjieva J, Guleva D, Marina S, et al. Berardinelli-Seip syndrome-A case report[J]. Serbian J Dermatol Venereol, 2016, 8(2):101-104.
[3] Berardinelli W. An undiagnosed endocrinometabolic syndrome:report of 2 cases[J]. J Clin Endocrinol Metab, 1954, 14(2):193-204.
[4] Seip M. Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome[J]. Acta Paediatrica, 1959, 48:555-574.
[5] 刘国庆, 崔鑫, 谢元. Seipin与先天性全身脂肪营养不良[J]. 重庆医科大学学报, 2013, 38(1):1-4.
[6] 张梦奇, 马明圣, 邱正庆. BSCL2基因突变致先天性全身脂肪营养不良症1例报告并文献复习[J]. 临床儿科杂志, 2017, 35(7):532-536.
[7] 劳文芹, 孟哲, 欧辉, 等. 儿童Berardinelli-Seip综合征2例报告[J]. 中国实用儿科杂志, 2016, 31(2):157-158.
[8] 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.
[9] 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.
[10] 袁欣, 陈瑞敏, 王剑, 等. 先天性全身性脂肪营养不良BSCL2基因突变1例并文献复习[J]. 中国循证儿科杂志, 2016, 11(5):377-381.
[11] Shawky RM, Gamal R, Seifeldin NS. Berardinelli-Seip syndrome type 2-An Egyptian child[J]. Egyptian J Med Human Genet, 2015, 16:189-193.
[12] Garg A, Misra A. Lipodystrophies:rare disorders causing metabolic syndrome[J]. Endocrinol Metab Clin North Am, 2004, 33(2):305-331.
[13] Richard E, Robert M, Hal B. 尼尔逊儿科学[M]. 第16版. 科学出版社, 2001:2018.
[14] 赵诸慧, 沈水仙, 支涤静, 等. 儿童全身性脂肪营养不良伴糖尿病1例报告[J]. 临床儿科杂志, 2006, 24(12):1013-1014.
[15] Oral EA, Simha V, Ruiz E, et al. Leptin-replacement therapy for lipodystrophy[J]. N Engl J Med, 2002, 346(8):570-578.
[16] Patni N, Garg A. Congenital generalized lipodystrophies--new insights into metabolic dysfunction[J]. Nat Rev Endocrinol, 2015, 11(9):522-534.
[17] 蒋优君, 梁黎, 董关萍, 等. 先天性全身性脂肪营养不良一例[J]. 中华儿科杂志, 2004, 42(12):959.
