Germinoma presenting as a fourth cranial nerve palsy in a patient with adenomatous polyposis coli (APC) gene mutation

J AAPOS. 2011 Feb;15(1):71-3. doi: 10.1016/j.jaapos.2010.11.004.

Abstract

A 17-year-old boy with adenomatous polyposis and a history of an adenomatous polyposis coli (APC) gene mutation (IVS13(-2) A>G) presented for evaluation of vertical, binocular diplopia. Examination was suggestive of a fourth (trochlear) nerve palsy. A history of headaches was elicited and led to further investigation with neuroimaging, which identified a germinoma in the tectal plate and secondary hydrocephalus. We report the clinical, radiological, and histopathological findings of this patient, who to our knowledge is the first reported case of a germinoma occurring in association with adenomatous polyposis.

Publication types

  • Case Reports

MeSH terms

  • Adenomatous Polyposis Coli / complications*
  • Adenomatous Polyposis Coli / genetics
  • Adolescent
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Brain Neoplasms / diagnosis
  • Brain Neoplasms / drug therapy
  • Brain Neoplasms / etiology*
  • Carboplatin / administration & dosage
  • Diplopia / diagnosis
  • Diplopia / etiology
  • Etoposide / administration & dosage
  • Genes, APC*
  • Germinoma / diagnosis
  • Germinoma / drug therapy
  • Germinoma / etiology*
  • Headache / diagnosis
  • Headache / etiology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Papilledema / diagnosis
  • Papilledema / etiology
  • Point Mutation*
  • Trochlear Nerve Diseases / diagnosis
  • Trochlear Nerve Diseases / etiology*

Substances

  • Etoposide
  • Carboplatin