Rare Diseases Symptoms Automatic Extraction

Fabry disease simulating Crohn's ileitis.

[fabry disease]

Fabry disease is an inherited (X-linked) lysosomal storage disorder caused by deficiency of α-galactosidase A, leading to accumulation of globotriaosylceramide in various tissues. A 57-year-old male with a family history and laboratory findings of Fabry disease, was consulted for severe abdominal pain, undulating pyrexia, weight loss and diarrhea. The tentative clinical diagnosis of Crohn's ileitis was supported at computed tomographic examination, at laparotomy and at inspection of the resected ileal segment. Histology revealed chronic and acute inflammation, thick-walled occluded vessels, fibrosis and characteristic bi-refringent lamellar deposits of globotriaosylceramide and calcifications. Multi-nucleated giant cells contained phagocytized bi-refringent material. Transmission electron microscopy showed cells with irregular cytoplasmic bodies displaying distinctive zebra-like lamellar structures. It is submitted that the gastrointestinal phenotype of Fabry disease may concur with symptoms resembling abdominal Crohn's disease.

Diseases presenting "giant cells" symptom

  • alpha-thalassemia
  • carcinoma of the gallbladder
  • erdheim-chester disease
  • fabry disease
  • pleomorphic liposarcoma
  • pyruvate dehydrogenase deficiency
  • well-differentiated liposarcoma

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