Hepatomegaly with neutropenia: a girl with glycogen storage disease Ib

Abstract

DesCripTionA 15-month-old girl, born to a second-degree consanguineous marriage, presented with history of recurrent respiratory tract infections over past 6 months, which required in-hospital treatment with intravenous antibiotics and respiratory support. There was no history of diarrhoea, ear or skin infections or failure to gain weight. There was history of hypoglycaemic seizures in neonatal period and he expired due to sepsis at 8 months of age.On examination, she was a well-thriving child with sparse hypopigmented hair (figure 1A). Her abdomen was distended with firm hepatomegaly (span 15 cm), without any evidence of splenic enlargement or free fluid. Rest of systemic examination was unremarkable.Investigations revealed neutropenia (haemoglobin 87 g/L, total leucocyte count (TLC) 6.7x10 9 /L, absolute neutrophil count (ANC) 871/ mm 3 , platelet count 306x10 9 /L) and elevated transaminases: aspartate aminotransferase (AST) 248 IU/L and alanine aminotransferase (ALT) 128 IU/L respectively. He also had hyperlipidaemia (serum cholesterol 332 mg/dL, triglycerides 1845 mg/dL), hyperuricaemia (7.8 mg/dL) and elevated lactate (4.7 mmol/L) levels. Ultrasound of abdomen revealed enlarged liver (15.3 cm) as well as kidneys (8.5 cm). Hair microscopy was unremarkable, and workup for immunodeficiency (primary and secondary) was negative.