Gaucher Disease

What this deck covers

Gaucher Disease in fourteen clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the fourteen cases you are asked to choose between options such as: Gaucher disease, Acute lymphoblastic leukaemia, Epstein-Barr virus infection, Portal hypertension from biliary atresia, IV ceftriaxone for presumed osteomyelitis, Bone marrow biopsy to rule out malignancy, Accumulation of galactocerebroside in oligodendrocytes, Defective degradation of GM2 gangliosides in neurons, Failure of sphingomyelin breakdown in macrophages, Accumulation of glucosylceramide in macrophage lysosomes, Leukocyte acid beta-glucocerebrosidase enzyme assay, Bone marrow biopsy, GBA1 gene mutation panel, Serum chitotriosidase level, Autoimmune haemolytic anaemia from cytokines, Chemotherapy-related myelosuppression, Bone marrow infiltration plus hypersplenism, Nutritional deficiency from malabsorption, Type 1 — non-neuronopathic, Type 3 — chronic neuronopathic, Niemann-Pick disease type C, Type 2 — acute neuronopathic, Pompe disease (acid alpha-glucosidase deficiency), Fabry disease (alpha-galactosidase A deficiency), Mucopolysaccharidosis type I (Hurler syndrome), Oral miglustat three times daily.

Clinical pearls from this deck

• Massive splenomegaly with pancytopenia in a child is Gaucher disease until proven otherwise. A spleen 10 cm below the costal margin with anaemia, thrombocytopenia and leukopenia reflects two mechanisms working together — bone marrow infiltration by Gaucher cells and hypersplenism.
• A bone crisis is an intraosseous infarction — Gaucher cells occlude the medullary blood supply. Treatment is analgesia and aggressive IV hydration. Fever, raised ESR and CRP are part of the crisis itself, not evidence of infection.

The fourteen worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.