Gaucher Disease Recognised After Splenectomy in Rural Tanzania: A Case Report
Agnes Lucas Mlawa, Tresphory Boniphace Kamushaga, Bahati George Kamwezi, Tulia Michael Hadi, Lusekelo Wistone Mwalukambwe, Edrick Elias, Lugano Wilson, Alessandro Calisti, Mirko LombardiAbstract
Introduction
Gaucher disease (GD) is a lysosomal storage disorder whose diagnosis may be delayed when enzyme and molecular testing are inaccessible, allowing prolonged empirical treatment or surgery before the underlying disorder is recognised.
Case description
A 13-year-old boy from rural Tanzania had three years of progressive abdominal distension, weight loss, pallor and fatigue. Examination showed massive splenomegaly; haemoglobin was 7.3 g/dL and platelet count 46 × 10⁹/L. Iron deficiency was not biochemically confirmed. Preoperative abdominal ultrasonography confirmed splenomegaly, with a sonographic longitudinal dimension of 21 cm and homogeneous echotexture. Splenectomy was performed for severe symptomatic splenomegaly and cytopenias. The excised spleen measured 35 × 25 × 20 cm and weighed 3.4 kg. Histopathology showed characteristic Gaucher cells and supported GD. At three months, haemoglobin was 11.9 g/dL and platelet count 751 × 10⁹/L, representing marked postoperative thrombocytosis. Enzyme replacement therapy was inaccessible.
Discussion
The case illustrates diagnostic delay and the limits of splenectomy where disease-specific services are unavailable. Splenectomy improved anaemia and resolved the preoperative thrombocytopenia but did not treat the metabolic defect and created lifelong infectious and skeletal risks.
Learning point(s)
Persistent massive splenomegaly with cytopenias should prompt consideration of GD; when splenectomy is undertaken, postoperative thrombocytosis, vaccination, infection prevention and long-term surveillance require explicit follow-up.