title: Germinoma presenting as a fourth cranial nerve palsy in a patient with adenomatous polyposis coli (APC) gene mutation.
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.
authors.affiliation: Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.
authors.forename: Breno Rocha
authors.initials: BR
authors.lastname: Lima
authors.forename: Lynn
authors.initials: L
authors.lastname: Schoenfield
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Rychwalski
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000150:complications* / Q000235:genetics; D000293:Adolescent; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001932:Brain Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D016190:Carboplatin / Q000008:administration & dosage; D004172:Diplopia / Q000175:diagnosis / Q000209:etiology; D005047:Etoposide / Q000008:administration & dosage; D017491:Genes, APC; D018237:Germinoma / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D006261:Headache / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010211:Papilledema / Q000175:diagnosis / Q000209:etiology; D017354:Point Mutation; D020432:Trochlear Nerve Diseases / Q000175:diagnosis / Q000209:etiology*
chemical_list: D005047:Etoposide; D016190:Carboplatin