Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 20-year-old man presented with diplopia. Neurological examination revealed mild skew deviation and upbeat nystagmus. Computed tomography showed a clover-shaped isodense mass in the pineal region with homogeneous enhancement. The lesion was isointense on both T(1)- and T(2)-weighted magnetic resonance (MR) imaging with homogeneous enhancement by gadolinium-diethylenetriaminepenta-acetic acid. Cerebral angiography showed no tumor staining. Serum and cerebrospinal fluid were negative for beta-human chorionic gonadotropin, alpha-fetoprotein, and placental alkaline phosphatase. Open biopsy was performed using a right occipital transtentorial approach. Histological examination revealed a tumor consisting of clusters of germinoma cells, but with prominent infiltration of lymphocytes, plasma cells, and macrophages, and proliferation of small vessels. The histological diagnosis was germinoma with granulomatous reaction. MR imaging showed complete disappearance of the tumor after chemoradiotherapy. Neurosurgeons should be aware of this rare tumor to avoid misdiagnosis as granulomatous inflammation.
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PMID:Pineal Germinoma with granulomatous reaction: case report. 1612 61

We report the case of a 33-year-old man with diplopia, sleepiness, and paresthesia of the left upper limb that were slowly progressive. On admission, he presented with restriction in the vertical movement of the eyes and abduction of the right eye, and horizontal and convergence nystagmus. Slight weakness of the left upper limb, bilateral Babinski sign, and truncal ataxia were also noted. Cerebral magnetic resonance imaging was performed, and gadolinium-enhanced T1-weighted imaging revealed a mass lesion that involved the diencephalon and the corpus callosum, which was invariably enhanced. Specimens obtained using a brain biopsy showed epithelioid granuloma with the presence of foreign body giant cells and lymphocytic infiltration. Prednisolone was administrated because we suspected neurosarcoidosis, but the clinical symptoms worsened with the enlargement of the lesion. A re-evaluation of the biopsy specimens using immunohistochemistry revealed tumor cells of germinoma that were scattered among the lymphocytes and positive for periodic acid-Schiff staining, placental alkaline phosphatase, and c-kit. A combination of chemotherapy and radiation resulted in clinical improvement and marked reduction of the mass lesion in size. We concluded that the possibility of germinoma should be considered in case granulomatous inflammation is observed in brain biopsy specimens.
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PMID:[Intracranial germinoma masquerading as a granulomatous inflammation, diagnostic failure after brain biopsy]. 2422 69