Presentation
Anemia, hepatosplenomegaly with thrombocytopenia.
Patient Data
Relatively reduced constriction of the femoral diaphysis and flaring of the metaphysis mainly on the right "Erlenmeyer flask deformity".
Enlarged spleen with multiple nodular masses of various sizes, isoechogenic and hyperechogenic to the spleen with no significant internal vascularity.
massive splenomegaly (25.5 cm) with multiple lobulated lesions of various sizes (largest lesions measure 73 x 62 x 47 mm and 64 x 53 x 50 mm ). These lesions are isodense to spleen on non-enhanced CT, well-demonstrated on arterial and portal phases with no evidence of progressive discontinous enhancement and disappeared on the delayed phase (excretory phase)
homogeneous hepatomegaly (25 cm)
small accessory spleen is noted
Genetic test (GBA) confirmed the diagnosis of Gaucher disease.
Case Discussion
Gaucher disease (GD) is the most common lysosomal storage disorder in humans. It is an autosomal recessive, multisystem disease arising from a deficiency of glucocerebrosidase or beta-glucosidase activity, resulting in the accumulation of a glycolipid (glucocerebroside) within the lysosomes of macrophages, particularity in the bone marrow, spleen and liver. Type 1 is the most common form, present in childhood and young adults. Type 2 and 3 are relatively rare, usually occur in infants and young children.
Gaucheromas: rare pseudotumors comprising a mass of Gaucher cells
Additional contributors:
Z.E, Boudiaf, MD, CIM aurès, Batna, Algeria
S. Rouabhia, Assoc Prof, head and chairman, department of internal medecine, CHU Batna, Algeria.
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