Abstract:A 2-month-old boy presented with adrenal insufficiency, impaired liver function, hypertriglyceridemia, significantly elevated creatine kinase and electrolyte disturbance. Microarray comparative genomic hybridization (aCGH) analysis test showed a pathogenic 8.7 Mb deletion in the short arm of chromosome X (Xp21.3 - p21.1) and confirmed the diagnosis of complex glycerol kinase deficiency (cGKD). He was treated with hydrocortisone, coenzyme Q10 and L-carnitine and was subsequently followed up for 4 years. His serum cortisol levels returned to normal one week later after treatment, but the serum creatine kinase, triglyceride and aminotransferase levels were progressively increased along with mental retardation and decreased muscular strength. cGKD is also named as Xp21 contiguous gene syndrome. The clinical manifestations of this disease include hypertriglyceridemia, congenital adrenal hypoplasia (AHC), Duchenne muscular dystrophy, and mental retardation. This case highlights the necessity to screen the serum triglyceride and creatine kinase levels in infants with suspected adrenal insufficiency.
ZHENG Zhang-Qian,WU Bing-Bing,ZHANG Miao-Ying et al. Recurrent anorexia and pigmentation of skin for more than two months in an infant[J]. CJCP, 2017, 19(8): 926-929.
Burra P. Liver abnormalities and endocrine diseases[J]. Best Pract Res Clin Gastroenterol, 2013, 27 (4): 553-563.
[2]
McCabe ER, Fennessey PV, Guggenheim MA, et al. Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria[J]. Biochem Biophys Res Commun, 1977, 78 (4): 1327-1333.
[3]
Guggenheim MA, McCabe ER, Roig M, et al. Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities[J]. Ann Neurol, 1980, 7 (5): 441-449.
Patil SR, Bartley JA, Murray JC, et al. X-linked glycerol kinase, adrenal hypoplasia and myopathy maps at Xp21[J]. Cytogenet. Cell Genet, 1985, 40: 720-721.
[6]
McCabe ER, Towbin JA, van den Engh G, et al. Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints[J]. Am J Hum Genet, 1992, 51 (6): 1277-1285.
Zhang YH, Huang BL, Niakan KK, et al. IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1[J]. Hum Mutat, 2004, 24 (3): 273.
[12]
Behnecke A, Hinderhofer K, Bartsch O, et al. Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature[J]. Am J Med Genet A, 2011, 155A (2): 372-379.