Mandeep Singla, Kulandaivelu Arivarasan, Varun Dhir, Prashant Sharma, Aman Sharma, Shefali Sharma, Surjit SinghA 20-year-old male was admitted to our hospital with progressively increasing swelling of the abdomen since 12 years earlier; he tired easily. On examination, he had massive splenomegaly and moderate hepatomegaly (Figure 1), with kyphoscoliosis. Figure 1. Massive splenomegaly and hepatomegaly There was no lymphadenopathy. His blood investigations revealed bicytopenia (Hb 8.1, platelet count 18,000 and TLC 6100); the liver function tests were normal. CT abdomen showed massive splenomegaly with multiple cystic and calcified lesions—probably old infarcts and hepatomegaly (see Figure 2 upper panel), with the spleen extending into the pelvis displacing bowel loops (see Figure 2 lower panel). Figure 2. CT of the abdomen showing massive splenomegaly shifting other contents of the abdomen laterally An X-ray of the thoracic spine showed vertebral collapse (not shown). Bone marrow examination revealed foamy histiocytes (Figure 3). The leucocyte β glucosidase level was low: 0.96 nmol/hour/mg (normal 6-9) thus confirming the diagnosis of Gaucher's disease (lower than 15% normal mean). He was referred for possible inclusion in a clinical trial to another centre. Figure 3. Bone marrow showing large histiocytic cells with abundant pale eosiniophilic cytoplasm (marked with arrow) and small, central to eccentric nuclei present in clusters (Haematoxylin and Eosin stain, 400×) Discussion Gaucher's is an orphan pan-ethnic autosomal recessive disease (incidence 1:40,000) caused by mutations leading to deficiency of the enzyme ß-glucosidase (also called glucocerbrosidase or glucosylceramidase). This leads to lysosomal accumulation of glucosylceramide most commonly in histiocytes, which leads to various organ manifestations. It is divided into three types: type 1 or the chronic non-neuronopathic form (95%) and the neuronopathic forms; type 2 (infantile) and type 3 (juvenile).1 The type 1 form is the most common, usually presents in childhood, and is characterised by hepato-splenomegaly, cytopenias and skeletal disease. In the skeleton these patients may have abnormal bone remodelling, bone infarctions (bone crises), lytic lesions and pathological fractures. However, the presentation can occur in the adults and there can be only some features present. This was the type present in our patient. The type 2 and 3 forms have in addition neurologic features like bulbar signs and occulomotor invovlement.2 The treatment of choice is enzyme replacement therapy (recombinant imiglucerase), which is expensive and not easily available, or substrate reducing drugs.3 This is an unusual cause of massive splenomegaly in adults, and should be considered especially in those with long standing organomegaly without fever or lymphadenopathy.