Open AccessGaucher disease: A cause of massive splenomegaly in a 15-year-old black African male
Author(s) -
Tanusha Ramdin,
AUTHOR_ID,
Elise Schapkaitz,
Sheeba Varughese,
H. Sevitz
Publication year - 2021
Publication title -
samj. south african medical journal/south african medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.527
H-Index - 57
eISSN - 2078-5135
pISSN - 0256-9574
DOI - 10.7196/samj.2022.v112i1.16011
Subject(s) - medicine , enzyme replacement therapy , abdominal distension , abdomen , disease , pediatrics , gaucher's disease , gastroenterology , hematology , lysosomal storage disease , surgery
Patients with Gaucher disease (GD), a rare autosomal recessive lysosomal storage disease, commonly present to paediatricians with massive splenomegaly. While the diagnosis and management of patients with this chronic multisystem disorder has evolved significantly in recent years, the initial diagnosis represents a challenge. We describe the case of a 15-year-old black African male who presented with abdominal distension, delayed growth and fatigue. Initial laboratory studies revealed severe anaemia (haemoglobin concentration 8 g/dL) and moderate thrombocytopenia (platelet count 80 × 109/L). A computed tomography scan of the abdomen showed an enlarged liver of 173 mm and massive splenomegaly of 27 mm. The diagnosis of GD was confirmed by reduced beta-glucocerebrosidase activity and heterozygous mutations in the GBA1 gene. The patient was managed at a dedicated paediatric haematology unit with enzyme replacement therapy and regular clinical, biochemical and radiological monitoring.