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79-year-old man with back pain, urinary dysfunction, and bilateral leg weakness. Neuroimaging shows compression fracture of L1 vertebral body. The patient has a childhood diagnosis of a metabolic disorder.
Gaucher’s disease is a lysosomal storage disease caused by loss-of-function mutations of glucocerebrosidase (GBA), leading to accumulation of glucocerebroside (a sphingolipid) within lysosomes, particularly of macrophages (“Gaucher cells”). Organs affected include the spleen, liver, kidney, lungs, and bone marrow (non-neuronopathic, type 1 disease) and the nervous system (neuronopathic, type 2 and 3 disease). Gaucher’s disease is transmitted in an autosomal recessive manner; it is rare in the general population but more common in those with Ashkenazi Jewish ancestry. Diagnosis is typically made by GBA enzyme activity assay and genetic testing. Microscopically, affected organs show infiltration by large Gaucher cells that have characteristic “tissue paper-like” cytoplasm. In this case, the bone marrow within the vertebral body is infiltrated; this can lead to osteoporosis, bone pain, and fractures. Prognosis of non-neuronopathic Gaucher’s disease is better than neuronopathic and is compatible with long life; treatment is with enzyme replacement therapy and supportive measures depending on the organ involved.