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)

We report a 37-year-old man who presented memory loss, homonymous right hemianopsia, and elevation of anti-herpes simplex antibody titer. He had an auto accident in January 1992 in that the car he was driving slipped down a 3 m slope; his car was severely damaged, however, he himself was not injured. Shortly after this accident, he went out of his house less often than before, and he noted some difficulty in his vision. He changed his glasses twice, but his vision was unchanged. In July of 1992, he had an onset of difficulty in recent memory and disorientation to time. He also noted diplopia, and difficulty in seeing objects in his right visual field. He was admitted to our hospital on August 26 of the same year. General physical examination was unremarkable. On neurologic examination, he was alert but disoriented to time and place; calculation was also impaired. Mini-mental state examination was 18/30. He had no aphasia, apraxia, or agnosia. He showed a tendency to neglect his left side. Optic fundi and visual acuity were normal; right homonymous hemianopsia was present. Ocular movement was moderately restricted to most of the directions; pupils were isocoric and reacted to light promptly. He complained of diplopia in right gaze, and monocular nystagmus was induced in his right eye upon right lateral gaze. Trigeminal nerves appeared intact. Minimum left facial weakness was present. The remaining of the cranial nerves appeared intact. His gait was wide-based and tandem gait was impossible. Muscle strength was normal as was the muscle tone. Finger to nose and heel to knee tests were done normally.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A 37-year-old man with memory loss, homonymous hemianopsia, and elevation of anti-herpes simplex virus antibody titer]. 782 5

A 13-year-old boy complained of frequent headaches and diplopia on rightward gaze. A CT scan demonstrated hydrocephalus and a non-homogeneous enhancing mass in the pineal area, leading to a diagnosis of pineal tumor. The physical examination revealed no abnormalities. On neurological examination, there were a right homonymous hemianopsia and slight choked disc in both optic fundi. His right eye was slightly adducted on primary gaze. On right lateral gaze, his right eye could not move beyond the midline and showed gaze paretic nystagmus, whereas his left eye could move fully in all directions. The abducens palsy could be overcome by the oculocephalic maneuver or caloric test. Interestingly, his right eye could abduct when his left eye was covered. From these finding, this was labelled a supranuclear abducens palsy. The convergent nystagmus was observed. Rightward OKN (quick phase to right) of the right eye was abolished with and without the left eye covered, while leftward OKN of the right eye was preserved. Pursuit to right was disturbed. After removal of the tumor, the gaze palsies disappeared. It is postulated that the supranuclear lateral gaze palsy was caused by impairment of supranuclear control by involvement of lateral gaze pathways to gaze center coursing near the oculomotor nucleus.
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PMID:[Unilateral supranuclear abducens palsy in a pineal tumor]. 819 45

A 10-year-old boy with palmoplantar hyperkeratosis and keratitis was reported. His physical development was normal and mental development was lower limit. He had also convulsions with low grade fever several times, and his EEG showed paroxysmal discharges. The plasma levels of phenylalanine and tyrosine were 5 to 10 times higher than those of controls. Tyrosinemia II was diagnosed on the low level of cytosol tyrosine aminotransferase in biopsied liver. The cases of tyrosinemia II were reviewed on the symptoms of the central nervous system. Two of twelve cases had convulsions. Adult cases demonstrated nystagmus, tremor, ataxia, and convulsion. Hyperkeratosis and corneal lesions were characteristic in symptoms of tyrosinemia II, but attention should be paid to the symptoms of the central nervous system.
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PMID:[A case of tyrosinemia type II with convulsion and EEG abnormality]. 826 Feb 11

The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral congenital hip dysplasia, delayed ossification of the femoral heads, scoliosis, short stature secondary to growth hormone deficiency, and developmental delay. His parents are consanguineous. His maternal first cousin, a 16-year-old girl, has congenital sensory polyneuropathy, infantile cataracts, unusual facies, scoliosis, short stature secondary to growth hormone deficiency, late-childhood-onset arthritis, and hypoglycemia. Reportedly, she has no hearing difficulties and has normal intelligence. Her parents are third cousins. These children appear to have a distinct variant of hereditary sensory and autonomic neuropathy with infantile cataracts, unusual facies, skeletal dysplasia, short stature secondary to growth hormone deficiency, and other features, with probable autosomal recessive inheritance.
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PMID:Unique hereditary sensory and autonomic neuropathy with growth hormone deficiency. 840 71

We report a 32-year-old man who developed cerebellar ataxia and a posterior fossa mass 12 years after the radiation therapy for a cerebellar arteriovenous malformation (AVM). The patient was well until 19 years of the age when he had an acute onset of vertigo and vomiting. A spinal tap was performed and the CSF was bloody. He was admitted to another hospital where an arteriovenous malformation was found in the cerebellum by angiography. Four years after the onset, he developed tingling sensation in the distribution of the second division of the right trigeminal nerve. He was admitted to the neurosurgery service of our hospital where the cerebellar AVM was confirmed. He was transferred to University of California where Bragg peak stereotaxic radiotherapy was successfully performed; this utilizes high energy alpha-ray produced by a cyclotron. Three years after the radiotherapy, marked reduction in the size of the AVM was confirmed by angiography. Twelve years after the onset of his initial symptom, he noted unsteadiness of gait. He was readmitted to our neurosurgery service where obstructive hydrocephalus was found. He was treated by ventriculoperitoneal shunting and placement of a Ommaya reservoir. After these therapy, he noted marked improvement in his gait and ataxia. However, in 1993, his unsteadiness of gait recurred, and he was again admitted to our neurosurgery service on June 20, 1993. On admission, T1-weighted MRI revealed a slightly low signal intensity mass lesion in the right cerebellar hemisphere compressing the brain stem; a spotty high signal intensity lesion and another small low intensity lesion were seen within the mass. Vertebro-basilar angiograms revealed upward displacement of the superior cerebellar arteries. No arteriovenous nidus was visualized. On July, 3rd, the cyst was surgically drained and the Ommaya reservoir was removed. Post-operative course was uneventful, however, he developed head tremor after the surgery. Neurologic examination on July 20, 1993 revealed an alert and well oriented man in no acute distress. General physical examination was unremarkable. Neurologic examination revealed no dementia; higher cerebral functions appeared intact. The optic discs were flat, and visual fields were intact. Ocular movements were full but convergence was restricted. Horizontal gaze nystagmus was noted more in the right lateral gaze. Pupils were intact. Facial sensation and facial muscles were intact. Hearing was normal. His voice was of nasal quality. Pharyngeal reflex was diminished. The tongue showed deviation to the left without atrophy. Head tremor at 5 c/s was noted. He was able to stand with support but was unable to walk. No muscle atrophy or weakness was noted. The finger-to-nose and the heel-to-knee tests showed dysmetria and decomposition more on the right. Rapid alternating movements were ataxic on the right. Muscle tone was diminished on the right. Muscle stretch reflexes were normally elicited and were symmetric. The plantar response was flexor bilaterally. Sensation was intact. On July 21, a posterior fossa exploration was performed. After the surgery, he was treated with 30 mg/day of alotinolol which showed no effect on his head tremor. He was then treated with gradually increasing doses of clonazepam; when he received 8 mg/day of clonazepam, his tremor showed marked improvement. He was discussed in a neurologic CPC on the nature of the posterior fossa lesion and his tremor. Opinions were divided between delayed radiation necrosis and a radiation-induced brain tumor. The chief discussant arrived at the conclusion that the patient had delayed radiation necrosis compressing the brain stem and cerebellar hemispheres. Regarding the nature of his tremor, he thought that his head tremor was of cerebellar type of postural tremor. Histologic examination of the biopsied specimen revealed accumulation of relatively fresh blood constituents in the deep area of the cerebellum forming a mass. Most of the
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PMID:[A 32-year-old man who developed a posterior fossa mass 12 years after the radiation therapy for cerebellar arteriovenous malformation]. 867 25

We report a 65-year-old man with parkinsonism, supranuclear gaze palsy, and dementia. The patient was well until 58 years of the age (1984) when he noted an onset of tremor in his right hand. He visited our neurology service two years after the onset; neurologic examination at that time revealed moderate restriction in down ward gaze, horizontal gaze nystagmus in left and right gaze, stooped posture with loss of arm swing when he walked, slight rigidity in the neck and the right upper and lower extremities, and resting tremor in his right hand and foot; mentation was intact. He was treated with 600 mg of levodopa with carbidopa; his tremor partially improved. He received left Vim thalamotomy on March 14 of 1987. His tremor disappeared after the thalamotomy. Post-operative course was complicated by transient clouding of consciousness due to subdural hematoma which developed after the surgery. Six months after the surgery, he noted increase in the unsteadiness of gait; he also experienced urinary incontinence once in a while, and he became mentally dull. In November of 1988, he had episodes of stiffening of his body. Although his spontaneous speech was very much reduced, he repeatedly hummed a same tune; no one could make him stop humming. In June of 1989, he was totally unable to move his eyes in the vertical direction. He was hospitalized to another hospital in May of 1990 where he died six month after admission because of pneumonia. The clinical course of this patient was characterized by the onset with parkinsonian resting tremor, and supranuclear gaze palsy and dementia in the later course. The patient was discussed in a neurological CPC and the chief discussant arrived at the conclusion that the patient had an overlap syndrome of progressive supranuclear palsy (PSP) and diffuse Lewy body disease. Majority of the participants thought that the patient had progressive supranuclear palsy, but many of them had an impression that parkinsonian tremor responding to levodopa as the initial symptom for PSP is rather unusual. Postmortem examination revealed severe loss of neurons in the substantia nigra, the globus pallidus, and the subthalamic nucleus with reactive gliosis; formy spheroids were seen in the substantia nigra, however, no Lewy bodies or neurofibrillary tangles were observed. Moderate neuronal loss was also seen in the dentate nucleus of the cerebellum. In addition, the precentral gyrus showed moderate neuronal loss, astrocytosis, and spongy change in the second layer; ballooned neurons were seen in the third and the fifth layers. Histologic characteristics were consistent with the pathologic diagnosis of corticobasal degeneration.
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PMID:[A 65-year-old man with Parkinsonism, gaze palsy, and dementia]. 867 36

We present the two siblings with X-linked hydrocephalus (XLH) and discuss the clinical features and genetical analysis of them. Case 1. The proband, a male, was delivered by the emergency cesarean section because of enlarged head circumference (44cm). His head circumference at 24 years old was 92cm. Neurological examination revealed adducted thumbs, horizontal nystagmus, hyperreflexia and spasticity of legs. He had tonic convulsions. MRI revealed a very thin layer of cerebral cortex. Molecular analysis revealed a deletion of 5 bases in exon 8 of the cell adhesion molecule L1 (L1CAM) gene located at chromosome Xq28. Case 2. The younger maternal half brother of case 1 was also born by the cesarean section, with 48cm in head circumference. A ventriculoatrial shunt was placed at the first month old. Epileptic seizures were seen. At the age of 21 years he had a head circumference of 59cm. A physical examination showed bilateral adducted thumbs, upward deviation of eyes, hyperreflexia and spasticity of legs. CT showed marked generalized ventricular enlargement including the fourth ventricle. Molecular analysis confirmed the same mutations as that of case 1. A maternal uncle had a previous diagnosis of hydrocephalus, and a sister is identified as a heterozygous carrier from molecular genetical analysis. Our results indicate that HLX is caused by the mutations in the gene for neural L1CAM in our family.
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PMID:[A family with X-linked hydrocephalus resulting from mutations in the neural cell adhesion molecule L1]. 874 50

A 28-year-old man was admitted to our hospital, because of double vision, memory disturbance and dysarthria. These symptoms developed in November, 1994. His mental activity was gradually decreased and he became apathetic. A physical examination on admission was unremarkable. There were no lymphadenopathy, hepatosplenomegaly or skin rash. Neurological examination revealed disorientation, decreased mental activity and left gaze-evoked nystagmus. Neuropsychological tests demonstrated impairment of recent memory and performance but frontal lobe functions were maintained. Laboratory data showed hyponatremia, elevation of antinuclear antibodies and IgG-antibodies to Epstein-Barr virus capsid antigen and Epstein-Barr virus nuclear antigen. A brain MRI revealed multiple lesions in the cerebral subcortex, cerebellum and brainstem. These lesions showed high signal intensity on T2-weighted images and enhanced high signal intensity on T1-weighted images using Gd-DTPA injection. A cystic mass was seen between bilateral lateral ventricles and contacted with the fornix and thalamus. Lymphomatoid granulomatosis was diagnosed by an open brain biopsy, which showed diffuse infiltration of small lymphocytes, histiocytes and plasma cells, especially around the small vessels. Epithelioid granuloma or necrosis was not seen. An immunohistochemical study showed that nearly all lymphocytes were MT-1 positive T lymphocytes. The patient was treated by whole brain irradiation (30Gy) and pulse therapy of methylprednisolone. Multiple lesions in the brain responded to these modalities with complete resolution of the lesions and clinical improvement. In this case, impressive multiple and cystic lesions seen on brain MRI disappeared by whole brain irradiation and steroid. Since etiologies of multiple lesions on MRI includes many possibilities, histological diagnostic methods should be performed to obtain a definitive diagnosis. This is the first case of lymphomatoid granulomatosis that showed multiple and cystic lesions on brain MRI in Japan.
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PMID:[Lymphomatoid granulomatosis of the brain with multiple lesions on MRI]. 893 97

We report a 56-year-old man who developed progressive paraparesis. He was apparently well, except for left Bell's palsy which developed on May 9 of 1994, for which he received stellate ganglion block on the left side more than ten times until July 2nd of 1994, when he noted pain in his left shoulder and in his lumbar region. On July 5th, he noted some difficulty in urination. On July 6th, he noted tingling sensation in his four extremities and difficulty in gait. He was admitted to another hospital where he was treated with intravenous infusion of glycerol. After this treatment, his gait and sensory disturbance showed some improvement, however, on July 7th, his shoulder and lumbar pain worsened, and he became unable to stand. His temperature went up to 39 degrees C on the next day. Lumbar CSF on that day contained 119 cells/microliters, 112 mg/dl of protein, and 53 mg/dl of sugar. He was transferred to our hospital on July 14th. His past medical history revealed that he had suffered from frequent bouts of osteomyelitis since the age of 13 years. He was operated on several times on osteomyelitis. He had been treated on his tooth ache until shortly before the onset of the present illness. He also received steroid hormone for his Bell's palsy. On admission, his consciousness varied from alert to stupor. His BP was 150/100 mmHg, HR 98/min and regular, BT 39.4 degrees C. The bulbar conjunctiva appeared somewhat icteric. Otherwise, general physical examination was unremarkable. On neurologic examination, there was no apparent dementia. Higher cerebral functions appeared intact. The optic discs were flat. Pupils were round and isocoric reacting to light and accommodation promptly. Ocular movements were full without nystagmus. Some exophthalmos was noted bilaterally. The sensation of the face and facial muscles were intact. The remaining cranial nerves also appeared intact. Nuchal rigidity was present. He was unable to stand or walk. Muscle strength was markedly diminished in all four limbs; manual muscle testing revealed 1 to 2/5 weakness in both upper and lower extremities bilaterally. Muscle stretch reflexes were decreased or lost in both upper and lower limbs, but the plantar response was extensor on the right. Sensation appeared to be diminished in legs, but detail was not clear because of disturbance of consciousness. Pertinent laboratory findings were as follows: WBC 12,800/microliter, GPT 58 IU/l, total bilirubin 2.65 mg/dl, and CRP 16.8 mg/dl. Cerebrospinal fluid contained 34 cells/microliter (approximately two thirds were neutrophils), RBC 1,110/microliter, 2,949 mg/dl of protein, and 119 mg/dl of glucose; stapylococcus aureus was cultured from the CSF. Myelogram showed a filling defect in the anterior epidural space between the low thoracic and the upper lumbar region. The patient was treated with cephotaxim, aminobenzyl penicillin, and chloramphenicol. On the second hospital day, his BT was still 39 degrees C and he was agitated His weakness was worse than the previous day. Spinal MRI was attempted; as he was agitated 5 mg of diazepam was given intravenously at 4 PM. His respiration was rapid and somewhat shallow. At 6 PM, gadolinium DTPA was injected intravenously; at that time, he was breathing and pupils were 3 mm on both sides. At 6:35 PM, an examiner noted that he stopped breathing; the left pupil was dilated to 5 mm. Cardiopulmonary resuscitation was initiated immediately, and intubation was performed. He was placed on a respirator. His blood pressure did not reach 100 mmHg; he was in deep coma. Cardiac arrest occurred at 8:53 AM on the next morning. The patient was discussed in a neurological CPC. Most of the participants thought that the patient had either spinal epidural empyema or spinal subdural abscess. The question was what might be the original focus of infection. Three possibilities were considered, i.e., stellate ganglion block, teeth infection, and osteomyelitis...
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PMID:[A 56-year-old man with fever, backache and tetraparesis]. 896 86

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


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