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 47-year old female had a fever about 39 degrees C of unknown origin for 2 days. Soon she developed pain in the bilateral lower extremities followed by gait disturbance and vesicorectal disorder. Prednisolone was administered with an improvement. However, she developed paresthesia in the upper extremities 1 month later, and then gradually paraplegia another 5 month later. Nystagmus, painful tonic spasm, facial spasm, and visual disorder also appeared. These symptoms repeatedly exacerbated and remitted with administration of prednisolone. We examined this patient at age 53, CBC, blood chemistry, urinalysis, ECG and chest X-ray were normal. Serum IgG and IgA level were decreased. CSF protein content and IgG level were remarkably increased. EEG showed diffuse theta activities. MRI studies revealed high intensity signals in the putamen, deep frontal and periventricular white matter region. Pulse therapy of methylprednisolone was performed effectively for several times. She died of respiratory and heart failure 6 years after the onset. Autopsy revealed bilateral continuous cystic lesions along the lateral ventricles extending from the frontal tips of anterior horns to the occipital tips of posterior, and further, to the temporal tips of lateral horns; the caudate-callosal angeles (Wetterwinkel) were more severely and widely affected bilaterally. There were also old and fresh demyelinated lesions scattered in the cerebral white matter, brainstem, cerebellum, and spinal cord. Although this case is considered to have typical MS from clinical and pathological findings, there have been only a few reports of MS with such continuous cystic lesions in the cerebral hemispheres as seen in this case.
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PMID:[An autopsy case of multiple sclerosis with bilateral continuous cystic lesions along lateral ventricles and caudate-callosal angles (Wetterwinkel)]. 179 16

A 45-year-old Japanese man, who had had bilateral visual disturbance due to Vogt-Koyanagi-Harada (VKH) disease 17 years before entry, was admitted to this hospital because of headache, vertigo and vomiting. On examination at entry, no abnormalities except for poliosis, patches of vitiligo on his left shin, sunset glow fundus, and positional nystagmus with Frenzel glasses were found. Laboratory data other than leukocytosis and elevated level of gamma-GTP were normal and the results of brain CT scan were within normal limits. On the following day, diplopia was developed and the neurological symptoms including loss of bilateral visual acuity, Horner's syndrome on the right side, right facial palsy, bilateral sensorineural hearing disturbance, palsy of the soft palate on the right side with swallowing difficulty, and dissociated sensory disturbance on the right face and the upper and lower extremities on the left side appeared with a few days. He couldn't get up. The cerebrospinal fluid (CSF) was clear and had pleocytosis with normal sugar content. The protein, immunoglobulin G and myelin basic protein (MBP) were elevated but the tests for oligoclonal band and antiviral antibodies were negative. Brain CT scan showed low density areas in right cerebellar hemisphere and in left putamen without abnormality with contrast material and evoked potentials were normal. Prednisolone was prescribed and his symptoms were subsided but his gait remained ataxic. Magnetic resonance imaging (MRI) 4 months later showed an atrophy of the lower half of bilateral cerebellar hemisphere supplied by posterior inferior cerebellar artery, suggesting cerebellar infarction, and high intensity areas on T2 image in bilateral cerebral white matters, basal ganglia, and left cerebral peduncle.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Wallenberg's syndrome in a case of Vogt-Koyanagi-Harada disease]. 261 5

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