Rare Diseases Symptoms Automatic Extraction

A magnetic resonance imaging diagnostic dilemma: diffuse infiltrating retinoblastoma versus Coats' disease.

[coats disease]

A 6-year-old boy presented with neovascular glaucoma secondary to total retinal detachment. Magnetic resonance imaging findings suggested diffuse infiltrating retinoblastoma. Enucleation was subsequently performed and led to a final histopathological diagnosis of advanced Coats' disease. Diffuse infiltrating retinoblastoma and advanced Coats' disease can be indistinguishable from each other on magnetic resonance imaging.

Diseases presenting "glaucoma" symptom

  • 22q11.2 deletion syndrome
  • aniridia
  • coats disease
  • cohen syndrome
  • krabbe disease
  • oculocutaneous albinism
  • oligodontia
  • proteus syndrome
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome

This symptom has already been validated