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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Wolfram syndrome is an autosomal recessive disorder beginning in childhood that consists of four cardinal features: optic atrophy, diabetes mellitus, diabetes insipidus, and neurosensory hearing loss. Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such as ataxia, nystagmus, mental retardation, and seizures. We present two unrelated patients with Wolfram syndrome, both of whom had the four cardinal features and several other neurologic abnormalities. MRIs showed widespread atrophic changes throughout the brain, some of which correlated with the major neurologic features of the syndrome.
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PMID:Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging. 160 50

A 34-year-old male presented with central diabetes insipidus accompanied by upbeat nystagmus and cerebellar ataxia. The patient without family history of above began to walk at the age of 2 years. Polyposia and polyuria were noted at the age of about 4 years. Dysbasia developed at the age of about 7 years. From the age of 30, lalopathy appeared together with various clinical symptoms including cataracts, disturbed intelligence, upbeat nystagmus, abnormal ocular movements, ataxic speech, cerebellar ataxia and reduction of the muscle tone of the limbs, and hypotonic polyuria. Abnormal laboratory findings included square wave jerks, upbeat nystagmus, and "bow tie" nystagmus by EOG, atrophy of the cerebellum and the brainstem by CT, a slight prolongation of the P300 latency, and a central diabetes insipidus pattern by water deprivation test and Carter-Robbins tests. There have been occasional reports of diabetes insipidus complicated by cerebellar ataxia, but in no earlier reports has diabetes insipidus been concurrent with abnormal ocular movements such as upbeat nystagmus. A degenerative disease primarily of the posterior lobe of the hypophysis, hypothalamus, cerebellum, and brainstem was suspected.
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PMID:[Central diabetes insipidus complicated with upbeat nystagmus and cerebellar ataxia]. 162 38

The authors report on one case of Wolfram syndrome, a rare condition, which is characterized by juvenile onset diabetes mellitus, diabetes insipidus, optic atrophy and sensorineural deafness. The findings of this 13-year follow-up show that this patient developed typical neurological complications of long-standing diabetes mellitus as in the common type 1 variant. Moreover, some peculiar signs occurred such as anosmia, ophthalmoplegia interna, and central nystagmus. Since Wolfram syndrome is probably part of a more generalized neurodegenerative disorder, long-term prognosis will depend both upon the severity of chronic diabetic complications and upon the rapidity, by which degeneration of cerebellar, pontine and brain stem structures appear. Prognosis of the cardinal clinical signs is such that optic atrophy, though usually quite rapid in the beginning, generally does not lead to complete blindness. Sensorineural hearing loss progresses very slowly so that deafness might be expected exceptionally only. The hearing deficit in classical diabetics, however, is of retrocochlear origin. Therefore, in Wolfram syndrome, a combined inner-ear and retrocochlear hearing loss may occur.
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PMID:Juvenile onset diabetes mellitus, central diabetes insipidus and optic atrophy (Wolfram syndrome)--neurological findings and prognostic implications. 185 94

Observation of neurosarcoidosis in a thirty-year-old black female characterised predominantly by bilateral facial nerve paralysis gave rise to a review of literature since 1978 and also to a comparison with an early study in 1963. As described 1963 the clinical picture is characterized by increased protein content of the CSF (33.8%), facial nerve paresis (25.5%), pleocytosis (23%), diabetes insipidus (21%), hemiparesis (17.2%), organic psychosis (16.9%), papilloedema (15.5%), ataxia (13%), convulsive seizures (12.5%), optic atrophy (12.5%), loss of hearing (12.2%), nystagmus (8.6%) and numerous other symptoms more rarely found. This corresponds to the symptoms of chronic basal meningitis with an infiltration in the neighbouring structures of brain and less frequently the spinal cord. In only 58.7% of the cases (presumably at the onset of sarcoidosis) was the bronchial tract (or the lungs) affected, in 11.5% the skin or the eyes. Although the clinical picture is clear enough the etiology has yet to be determined. Evidence of a pathogen or a pathogenic agent (analogous to berylliosis) has never been established to date. On the other hand there are some indications of a disturbance in the immune system, perhaps of a particular genetic foundation since sarcoidosis strikes black patients with conspicuous frequency. There exist more cases in one family. Exceeding expected random distribution, many patients have the HLA-Factor B 8 (on the chromosome 6) and DR 3. The Kveim-Test was in 71 cases positive, in 12 cases negative. The possibilities of carrying out studies of CSF - analogous to the studies of bronchial lavage - in the most cases of neurosarcoidosis have not been exhausted as to determine the activity of the T-lymphocytes, the interleucines, the angiotensin-converting enzyme while the Gallium 67 scintigraphy and other methods to determine the non-specific activity of the inflammation. The efficiency of the treatment with corticosteroids (Prednison or Triamcinolonacetonid) depends of the phase of the inflammatory process. 12% of the registered cases died.
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PMID:[Neurosarcoidosis. Comparative analysis of the clinical profile based on 537 cases from the world literature up to 1963 and from 1976-1988]. 240 26

Inverse ocular bobbing (IOB) is an uncommon abnormal eye movement. Its characteristics are slow downward eye movement with rapid upward return, a nadir at the extreme of downgaze position and horizontal roving eye movement. We present a case of IOB associated with cerebral embolism and diabetes insipidus. A 69 year-old right-handed woman was admitted because of a consciousness disturbance. She had been well until November 10, 1983, when she was found dysarthric and left hemiplegic. On admission, she was stuporous. There were conjugate deviation to the right, central left facial and hypoglossal palsy, left hemiplegia with spasticity, left hyperreflexia with positive pathologic reflex and anosognosia. A CT scan performed on November 11 showed extensive hypodense area in the region supplied by the right middle cerebral artery. A right carotid angiography revealed multiple occlusions in the top of the right internal carotid artery with poor collateral circulation. After admission, the level of consciousness gradually deteriorated and became comatose on November 18, when the following abnormal eye movements were observed. Following spontaneous horizontal roving eye movement, both eyes deviated downward slowly from midposition, taking 1 to 2 seconds to reach the nadir. The eyes then remained in the position for 1 to 15 seconds, followed by a rapid return to the midposition. These abnormal eye movements are compatible with inverse ocular bobbing (IOB) described by Knobler. Electronystagmography detected typical IOB and spontaneous upward nystagmus. There was no evidence of hypoxia when these abnormal eye movements were present.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Inverse ocular bobbing associated with cerebral embolism and diabetes insipidus--a case report]. 274 84

The association of diabetes mellitus, optic nerve atrophy, and sensorineural deafness is a rare but distinct syndrome. We describe an 18-year-old woman who developed diabetes mellitus at three years of age, sensorineural deafness at 14 years of age, and bilateral asymptomatic optic atrophy at 18 years of age. Diabetic retinopathy was notably absent. Forty-two patients with diabetes mellitus and optic atrophy have been described. All had type I diabetes mellitus without typical diabetic retinopathy even though insulin-dependent diabetes mellitus was present for many years. Other neurologic abnormalities, including diabetes insipidus, epilepsy, and nystagmus, have been described in association with diabetes mellitus and optic atrophy. A distinct, heredofamilial genetic mechanism, unrelated to diabetes mellitus per se, is postulated.
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PMID:Coexistence of diabetes mellitus, optic atrophy, and sensorineural deafness: case report. 371 43

The clinical, neuroradiologic, and endocrine features in 16 patients with septo-optic dysplasia are reviewed. All of the patients had clinical optic nerve hypoplasia with varying degrees of nystagmus and visual impairment. Only one-half of the patients had absence of the septum pellucidum. Fourteen children were growth hormone deficient, 9 were adrenocorticotrophic hormone deficient, 3 were thyroid-stimulating hormone deficient, and 4 had diabetes insipidus. In most instances, the diagnosis of septo-optic dysplasia can be established by physical examination and neuroradiologic findings, at which point a thorough evaluation of the hypothalamic-pituitary endocrine function is indicated because of the high incidence of hypopituitarism with this syndrome.
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PMID:Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia. 609 18

The authors report a case of histiocytosis X which presented with neurological manifestations in a 20 year old man: episodes of headache with vomiting, followed, three months later, by the development of paralysis of the right 6th and 7th cranial nerves associated with nystagmus. The CT scan revealed a tumour-like lesion on the floor of the IVth ventricle with a long axis of 18 mm. The chest x-ray revealed diffuse nodular opacities in the pleural and apical regions with features suggestive of histiocytosis X. The diagnosis was confirmed by surgical biopsy of the typical pulmonary nodules which were rich in histiocytes with X bodies on electron microscopy. The neurological signs disappeared after one month of treatment with Prednisone (1 mg/kg/day) and Vincaleukoblastine (10 mg/week). By the 3rd month, the pulmonary lesions were reduced and the intra-ventricular formation had regressed by 40%. In the authors' series of 29 cases of confirmed histiocytosis X in adults, the present case is the only one with a clinical neurological presentation, apart from 3 cases of diabetes insipidus. A review of the literature confirms the rarity of this type of presentation. The suggestion of the diagnosis by the chest x-ray appearance enabled a dangerous neuro-surgical operation to be avoided.
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PMID:[Cerebral and pulmonary histiocytosis X. Neurologic manifestations disclosing a pseudotumoral formation on the floor of the 4th ventricle]. 633 82

In the past 10 years, 15 children with bilateral optic nerve hypoplasia have been studied at the Royal Alexandra Hospital for Children. There were 5 boys and 10 girls. Nine were first-born and they presented at a mean age of 5 months (range: 4 days to 25 months). Five presented with suspected blindness and 7 with abnormal eye movements (nystagmus or less commonly squint). The other 3 presented because of fits or developmental delay. Eight showed evidence of neural damage--microcephaly, seizures and/or abnormalities of tone. Four appeared to be of normal or near normal intelligence, 6 were mildly retarded and 5 severely so. Two patients had already died, one suddenly. Six of the 7 cases investigated in detail had evidence of hypothalamic pituitary dysfunction. Another one had a minimal hypothalamic abnormality. Four were severely growth retarded and 2 were receiving growth hormone replacement. Two males had micropenis and a girl had precocious puberty with partial diabetes insipidus. Neuroradiological investigations showed an absent septum pellucidum in only 5 cases. Five patients had other major CNS malformations. Five patients had normal CT scans; 3 of these 5 appeared of normal intelligence and all 5 had normal neurological examinations. Bilateral optic nerve hypoplasia is frequently associated with serious brain and endocrine abnormalities.
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PMID:Bilateral optic nerve hypoplasia. 692 92

Five children had bilateral optic nerve hypoplasia, absent septum pellucidum, and hypopituitarism. Absence of the septum pellucidum was shown by computed axial tomography. All of the children were first-born. One of the children was definitely not mentally retarded and one at age 7 months was developing normally. All of the children had severe visual impairment and nystagmus. Pupillary responses varied. Ocular deviations included one with exotropia and three with esotropia. The extent of pituitary hormone deficiency varied. One child was symptomatic from birth, having severe hypoglycemia and seizures. Two children had prolonged neonatal jaundice. One unusual case had growth hormone deficiency with a normal growth curve. Another child with diabetes insipidus had dehydration and polyuria without polydipsia.
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PMID:Optic nerve hypoplasia associated with absent septum pellucidum and hypopituitarism. 735 76


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