Rare Diseases Symptoms Automatic Extraction

Contribution of endosonography in an uncommon case of pancreatic cysts.

[von hippel-lindau disease]

Here we present the case of a 35-year-old female patient with long standing dyspepsia and imaging studies showing the presence of multiple cysts in the head and tail of the pancreas. The patient underwent endosonography that confirmed the presence of multiple simple cysts throughout the entirety of the pancreas without dilation of the pancreatic duct. The majority of the cysts were less than one centimeter in size, and the largest cyst showed a honeycomb appearance. Cytology of aspirates from the two largest cysts was compatible with benign pancreatic cysts. Endosonography also revealed cysts within the left kidney and spleen. Genetic testing confirmed Von Hippel-Lindau disease. We highlight this case because it is unusual for Von Hippel-Lindau disease, a rare clinical entity, to present solely with cysts in the absence of more common manifestations, such as hemangioblastomas in the central nervous system and malignancy.

Diseases presenting "malignancy" symptom

  • esophageal adenocarcinoma
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • focal myositis
  • inclusion body myositis
  • lymphangioleiomyomatosis
  • oral submucous fibrosis
  • von hippel-lindau disease
  • wiskott-aldrich syndrome

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