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Título

Atypical clinical presentation of a primary nervous system germinoma in a 32 years old man – a case report

RESUMO

CASE REPORT: F.L.G, 32 years old, male, admitted reporting amaurosis in the left eye, of acute onset, three months ago. He presented new visual loss in the right eye, with progressive worsening in 1 month. In addition, the patient reported 6 kilograms weight loss in three months and dyschromatopsia since childhood. In the neurological exam there was dysosmia to the right side, inferolateral quadrantopsia in the right eye and amaurosis in the left eye; besides that, it was identified atrophic papilla on the left eye and afferent pupillary defect and papilledema in the right eye. Magnetic Resonance Imaging showed a cystic lesion in the pellucid septum and right nucleocapsular lesion. This patient was submitted to an endoscopic surgery and biopsy showed a germinoma OCT-4 (MRQ-10), PLAP (8A9), CD 117 (c-kit), Ki-67 (MIB-1) positive (60%). DISCUSSION: Primary germinomas are rare malignant brain tumors with usual location in the pineal and supraselar regions. Its prevalence is approximately 0,2-1,7% of all primary intracranial tumors, most common among male. The reason why germinomas occur is poorly understood but it is secondary to changes during embryogenic development. These tumors mainly are diagnosed until the second decade of life. The treatment involves radiation therapy or combination with craniospinal chemotherapy if the tumor is not metastatic. The case reported above has an unexpected clinical presentation, once the most common are headache, vommiting, ataxia, somnolence and eye movement abnormalities. FINAL COMMENTS: this case is important to be discussed between neurologists because its atypical signs and symptoms could mimic other exclusively neurological conditions, like inflamatory central nervous system diseases. Besides that, the age of the disease, in the reported case, is different than expected, what could delay the diagnosis. From that it is important to neurologists recognize this condition, despite of unlikely epidemiology and clinical presentation, to make early diagnosis and improve survival rate once initiated the treatment.

Palavras Chave

Primary nervous system germinoma; Amaurosis; Malignant brain tumors; Atypical clinical presentation.