A 14-YEAR-OLD BOY with long-standing growth retardation (Figure 1) developed arthritis and the presence of firm, irregular, subcutaneous nodules over the dorsum of his right hand (Figure 2). He has a history of sweating and rapid respirations, particularly before meals. On physical examination his face appeared full, with prominent cheeks (Figure 3). His liver was palpable 12 cm below the right costal margin. The skin over his buttocks and posterior thighs had diffuse, firm, yellowish papules and nodules, some of which appeared excoriated and secondarily infected (Figure 4).
Laboratory studies revealed the following abnormal results: aspartate aminotransferase, 677 U/L; alanine aminotransferase, 434 U/L; triglycerides, 8.77 mmol/L (777 mg/dL); total cholesterol, 5.04 mmol/L (195 mg/dL); uric acid, 916 μmol/L (15.4 mg/dL); glucose, 2.2 mmol/L (40 mg/dL); and lactate, 5.0 mmol/L. A prolonged bleeding time, prothrombin time, and partial thromboplastin time were also present.
Denouement and Discussion
Glycogen Storage Disease Type la
Hou J, Wang T, Tunnessen WW. Picture of the Month. Arch Pediatr Adolesc Med. 1996;150(2):219-220. doi:10.1001/archpedi.1996.02170270101016