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 3-year-old boy had a history of nausea and vomiting for 1 month. After two episodes of tonic cramp, he became drowsy and then semicomatous. Physical examination on admission revealed a dehydrated semicomatous boy with fixed, dilated pupils of equal size, horizontal nystagmus, and left hemiparesis with bilateral Babinski signs. Plain skull films showed a separation of coronal and sagittal sutures. A high density area surrounded by cyst was found in the pineal region in CT scan. Angiography demonstrated stretching of the posterior choroidal arteries, backward displacement of the Galen, the posterior mesencephalic and the precentral vein. The right occipital transtentorial approach was selected to remove the tumor totally. Histology revealed epidermis, hair follicle, sebaceus and sweat glands, columar gland, bone, cartilage, muscle, fatty tissue, nervous tissue, and connective tissue, indicating a pineal teratoma. There was no evidence of germinoma.
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PMID:[Pineal teratoma--case report (author's transl)]. 44 May 19

A case with abnormal eye movement induced by eyelid closure and selective paralysis of downward gaze was reported. CT scan and MRI imaging revealed a pineal tumor with bilateral involvement of the thalamomesenchephalic junctions without obvious damage to the posterior commissure. Histopathologically, the tumor was a germinoma. The pupillary light reflex was absent and near reflex was reduced. Lightning eye movement, skew deviation and convergence-retraction nystagmus were observed. The horizontal eye movement was normal in both eyes. The eye did not move downward below the level of direct forward gaze spontaneously or on attempted downward gaze. Downward vestibulo-ocular reflex was absent. Bilateral abnormal vergence eye movement with alternating convergence and divergence was observed during eyelid closure. The cycle of the abnormal eye movement was about 3Hz and there was no fast phase. The abnormal eye movement was not observed in the darkened room with both eyes open. After subtotal removal and radiation therapy of the pineal tumor, the abnormal eye movement disappeared.
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PMID:[Abnormal vergence eye movement during eyelid closure caused by a pineal tumor]. 204 36

Brain tumors are, after leukemias, the most frequent fatal neoplasms of infancy. The clinical features and symptoms are often markedly different from those observed in the adult forms, according to the peculiar anatomy and behaviour of the child. Persistent headache, vomiting, astenia , behavioral alterations may be the precocious findings. Later, some more specific and suggestive signs such as strabismus, dyplopia , fast head size increase, funduscopic alterations, ataxia, paresis and nystagmus may be observed. On their appearance a prompt diagnostic work-up should be performed. The tumors of the posterior fossa (cerebellar astrocytoma and medulloblastoma, brainstem glyoma , hependimoma in decreasing order of frequency) generally cause precocious symptoms because of the small dimension of the subtentorial space; the presence in this region of several fundamental nuclei and pathways may explain how also small tumors may cause severe deficits. Supratentorial tumors (astrocytoma, malignant glyoma , hependimoma , craniofaringioma ) often show a more prolonged latency and may begin with signs of endocranial hypertension, seizures, or sometimes with hormonal troubles according to the involved anatomic structures. Hypothalamic astrocytoma is responsible of an extreme weight loss as far as to a cachetic status, due to the hyperincretion of GH. Finally, plexus papilloma, dermoid, optic nerve glyoma , oligodendroglyoma , germinoma, teratoma are responsible of a small number of child brain tumors, with different localization and symptomatology.
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PMID:[Clinical course of brain tumors in childhood]. 673 95

Two cases of the diencephalic syndrome were reported with hormonal studies. The first case was initially admitted at her age of 4 years and 10 months old. Progressive visual disturbance and horizontal nystagmus had developed one year prior to the admission. Her weight gain had stopped since 10 months old. Partial removal of the hypothalamic pilocytic astrocytoma and 5,000 rad of lineac radiotherapy brought satisfactory effects on her previous symptoms. She was readmitted, however, at her age of 8 years and 10 monts old because of precocious puberty. Her breast development was in Tanner's grade 2, and her bone maturation was equivalent to one of 11 years old. Hormonal studies showed decreased urine 17-OHCS and 17-KS, elevated serum LH, E1 and E2. The CT scan disclosed some enhanced area in the vicinity of the optic chiasm, which had not changed for the last one year. The second case was admitted at his age of 10 years and 9 months old because of progressive marked emaciation of 6 months' duration. Parinaud's sign was only positive neurological finding. The CT verified enhanced areas in the pineal and chiasm. Cytological study of CSF gave the diagnosis of germinoma. Hormonal studies showed decreased urine 17-OHCS and 17-KS, decreased T3, T4, ACTH, and increased PRL as well as increased HGH. Local lineac irradiation by 5,500 rads was given, during which the enhanced area in CT disappeared and his weight gain started. Increased HGH became normalized but paradoxical response of HGH to GTT remained same.
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PMID:[Two cases of the diencephalic syndrome were reported with hormonal studies (author's transl)]. 724 42

A 29-year-old woman with bitemporal hemianopia persisting after a suprasellar germinoma was resected twelve years previously had brief periods of pendular seesaw nystagmus after blinks and horizontal or vertical saccades. Nystagmus may have been suppressed during fixation, and escaped only when fixation was interrupted by blinks or saccades.
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PMID:Blink- and saccade-induced seesaw nystagmus. 855 9

We report a 29-year-old man with diabetes insipidus and cerebellar ataxia who developed spinal cord swelling 15 years after the onset. He was well until 14 years of the age when he noted dizziness. Two years after there was an onset of gait disturbance and slurred speech. He also noted polydipsia and polyuria. He was evaluated at the neurosurgery service of our hospital when he was 17 years of the age. Neurologic examination at that time revealed memory loss, horizontal nystagmus, cerebellar ataxic gait, dysmetria and decomposition more on the left. Cranial CT scan revealed a mass lesion involving the left subthalamic region and the head of the caudate area. Spinal fluid was unremarkable, however, human chorionic gonadotropin was increased to 27 mIU/ml. He was treated by radiation therapy (3,000 rads for total brain area and 5,460 rads for focal region). His CT scan and memory loss improved, however, cerebellar ataxia was unchanged. Three years after the radiation, he started to show choreic movement in his neck and left upper extremity. He was admitted to our service in August 14, 1995 when he was 29 years of the age. On admission, he was alert but disoriented to time; calculation was also poor. Higher cerebral functions were intact. The optic fundi were normal without papilledema. Visual field appeared intact. Gaze nystagmus was observed in all the directions, but more prominent in the horizontal direction. Speech was slurred. Otherwise, cranial nerves were unremarkable. Motor wise, he showed marked truncal and gait ataxia; he was unable to walk because of ataxia. Muscle atrophy and marked weakness was noted in both upper extremities more on the left side. Deep tendon reflexes were diminished in the upper extremities but active in the lower extremities. He was polyuric; urinary specific gravity was low. Spinal fluid contained 6 cells/cmm and 113 mg/ dl of protein; Queckenstedt was positive. MRI revealed swelling of the cervical cord; in addition, the entire cervical region and the medullar oblongata appeared as high signal intensity areas. No mass lesion was noted in the supratentorial structures but the third ventricle was markedly enlarged. Surgical biopsy was performed on the cervical lesion. The patient was discussed in neurologic CPC, and the chief discussant arrived at the conclusion that the patient had germinoma with syncytiotrophoblastic giant cells in the diencephalic region which appeared to have been cured by radiation therapy; he thought that the cervical lesion was the seeding of germinoma. Cerebellar ataxia was ascribed to the remote effect of germinoma. Most of the participants thought that the original tumor was germinoma and the cervical lesion was its spread. Some participants thought that his ataxia was caused by germinoma cells involving the medulla and the inferior cerebellar peduncles. Histologic observation of the biopsied tissue from the spinal cord revealed the typical two cell patterned germinoma. Most of the tumor cells were not stained for an antibody against HCG, but some tumor cells were positively stained. Germinoma is very radio-sensitive; this patient showed T2 high signal lesion involving the medulla oblongata and cervical cord continuously. Probably, tumor cells in the lower brain stem escaped radiation, and gradually spread to the spinal cord over many years. At the time of operation, the surface of the spinal cord was free from tumor cells. Therefore, tumor cells invaded the spinal cord continuously from the medulla oblongata. He was treated with cervical radiation, and his neurologic as well as radiologic findings showed marked improvement.
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PMID:[A 29-year-old man with diabetes insipidus and cerebellar ataxia and development of spinal cord swelling 15 years after the onset]. 916 63

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