An eight year old boy was brought with left sided abdominal pain since five days.
He is known to have Gaucher’s disease.
Contrast enhanced CT scan of the abdomen shows enlarged, mass forming lymph nodes in the right lumbar region and in the right iliac fossa - the largest measuring 6.2 x 3.2 cm . These show homogeneous enhancement,. The liver shows a cirrhotic pattern with surface irregularity and opening up of fissures. There is segmental reorganisation - the right lobe is atrophied, the left and the caudate lobes are hypertrophied. There is splenomegaly (15.6 cm in craniocaudal axis) with peripheral wedge shaped hypoenhancing areas suggestive of infarcts. Inthe lung, there is marked diffuse thickening of the interlobular and intralobular septae, with ground-glass opacity of the lung parenchyma, giving a crazy-paving pattern.
Gaucher's disease is named after French physician Philippe Gaucher, who first described the condition in 1882 while studying a patient with an enlarged spleen