Metabolic Bone Diseases
A 12-year-old boy of Ashkenazi Jewish descent presents with a 6-month history of left hip pain and limp. He has hepatosplenomegaly on examination. His parents report he has always been small for his age. Radiographs show an Erlenmeyer flask deformity of the distal femur bilaterally and changes consistent with avascular necrosis of the left femoral head. Blood work shows thrombocytopenia and anemia. Regarding Gaucher disease:
Mark each as TRUE or FALSE
Gaucher disease is the most common lysosomal storage disorder, caused by deficiency of the enzyme gl...
Glucocerebroside accumulates in macrophages which become pathognomonic "Gaucher cells" with a crinkl...
Type 1 Gaucher disease involves severe neurological manifestations including progressive dementia an...
Type 1 (non-neuronopathic) is the most common form (95%), has no CNS involvement, and presents with ...
Diagnosis is confirmed by demonstrating reduced glucocerebrosidase enzyme activity in leukocytes (ty...
Answer the questions to see explanations
Click T (True) or F (False) for each option