Rare Diseases Symptoms Automatic Extraction

Bilateral pheochromocytoma/intra-adrenal paraganglioma in von Hippel-Lindau patient causing acute myocardial infarction.

[von hippel-lindau disease]

A 26-year-old male presented to the emergency department complaining of obstipation, severe headache and abdominal pain. An autopsy revealed bilateral pheochromocytoma and acute myocardial infarction. The tumor cells showed positive immunoreactivity of both chromogranin A and synaptophysin and were negative for adrenocortical markers such as SF-1, c17, scc, 3-HSD as well as SDHB, suggesting a germline mutation of the gene SDHB or SDHD. Molecular genetic analyses did not show a mutation in these two genes, but a mutation in the VHL gene, in exon 3: VHL c.499C>T. This is a missense mutation and causes an amino acid change (Arg167Trp).

Diseases presenting "tumor cells" symptom

  • alpha-thalassemia
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • cushing syndrome
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • hodgkin lymphoma, classical
  • junctional epidermolysis bullosa
  • kindler syndrome
  • liposarcoma
  • lymphangioleiomyomatosis
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • severe combined immunodeficiency
  • triple a syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • wiskott-aldrich syndrome

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