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)

Spasmus nutans is an unusual neuro-ophthalmologic syndrome that affects infants. The clinical features of head nodding, nystagmus and head tilt are diagnostic although variability in their presentation is not uncommon. Computerized tomography of the head is recommended to rule out possible accompanying intracranial gliomas.
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PMID:Spasmus nutans: a pediatric enigma. 379 63

Patients with congenital types of nystagmus, including congenital nystagmus (CN), latent/manifest latent nystagmus (LMLN) and combinations of the two, can be identified by waveform analysis and classified into three unambiguous groups. This categorization by waveform is supported by different clinical signs, including the relationship to strabismus. Strabismus is essential for LMLN but incidental to CN; most CN patients do not have strabismus. Seventy-seven percent of CN patients have a convergence null, 57% a gaze angle null and nearly half have both; only 14% have neither. Also supporting this patient grouping by waveform is the high incidence of patients in each of the two major groups (ie, they had either only CN waveforms or only the LMLN waveform). Comparing the incidence of each CN waveform, or combinations of waveforms, in families with that in the general CN population, reveals that heredity plays a role in determining waveform; heredity also affects other characteristics, such as gaze angle or convergence nulls. The nystagmus blockage syndrome has at least two mechanisms and the patients, therefore, can belong to either of two groups. Spasmus nutans is hypothesized to be an oscillation of the vergence system and therefore, unrelated to CN or LMLN.
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PMID:Congenital, latent and manifest latent nystagmus--similarities, differences and relation to strabismus. 383 87

Spasmus nutans, usually believed to be a benign entity, is a disorder of young children consisting of nystagmus, head nodding and an anomalous head position of unknown etiology. We present a patient with spasmus nutans who proved to have a large arachnoid cyst. When the cyst was shunted the nystagmus lessened. Recent studies suggest that the head nodding and anomalous head position are adaptive mechanisms that compensate for the nystagmus and not pathological in themselves. Therefore, spasmus nutans is not a triad of findings, but an acquired nystagmus with associated adaptive responses. Because spasmus nutans implies a benign entity composed of three requisite components, we feel it is an inaccurate term that should be abandoned. A better designation would be acquired nystagmus of infancy, which would not imply a benign etiology.
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PMID:Spasmus nutans as a presenting sign of an arachnoid cyst. 387 Jun 54

Head turning in patients with spasmus nutans seems to transiently dampen the nystagmus. This was evident in two children by clinical observation and electrooculographic recording. The suppression of the nystagmus may have been mediated by the vestibular system.
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PMID:Habitual head turning in spasmus nutans: an oculographic study. 399 73

Of 11 young children (six girls and five boys, ranging in age from 4 to 14 months) with monocular nystagmus, six were found to have chiasmal tumors whereas only four had spasmus nutans. Differentiating features between these two groups included decreased vision and optic nerve anomalies (including four cases of optic nerve hypoplasia) in the tumor group. However, we found that no consistent clinical finding absolutely separates these groups. We therefore recommend that all infants and children with monocular nystagmus or the other features of spasmus nutans should undergo computed tomographic scanning.
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PMID:Monocular nystagmus in infancy and early childhood. 648 28

This study is a multicenter, retrospective report of 10 infants in whom acquired nystagmus was the initial sign of chiasmal/ parachiasmal glioma. Nine patients presented before the age of 10 months. The nystagmus, primarily described as pendular and asymmetric, was difficult to differentiate from and therefore most often diagnosed as spasmus nutans . On average in the ten patients, the intracranial glioma was not recognized for 8.6 months after the onset of nystagmus. In the five diagnosed as spasmus nutans , the mean delay in recognizing the tumor was 14.5 months. Three associated clinical findings were present or developed in these patients to distinguish this entity from spasmus nutans : optic atrophy in all ten patients, poor feeding due to diencephalic syndrome in 5 of 10, and increased intracranial pressure with hydrocephalus in 3 of 10. The acquired nystagmus in these infants was evidence of a life-threatening chiasmal/ parachiasmal glioma.
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PMID:Acquired nystagmus in early childhood: a presenting sign of intracranial tumor. 673 45

Subacute necrotizing encephalomyelopathy (SNE), or Leigh's disease, is an unusual neurologic disorder that is associated with nystagmus, strabismus, and optic atrophy in the majority of cases, and is most often described in infants. The defect currently thought to account for SNE is the presence of an inhibitor factor in the thiamine pathway. We saw a patient whose eye findings initially were believed to represent spasmus nutans, but whose clinical course, computed tomographic findings, and autopsy findings were typical of SNE.
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PMID:Leigh's subacute necrotizing encephalomyelopathy manifesting as spasmus nutans. 674 83

Three patients around the age of 1 year had signs and a clinical course that suggested the diagnosis of spasmus nutans. One child had nystagmus and head nodding with normal fundi, but persistent failure to thrive that suggested a hypothalamic lesion from the onset. The second child had nystagmus, head nodding, and a head tilt, and a confident diagnosis of spasmus nutans was made. The third child had unilateral nystagmus with no other abnormalities, and when improvement occurred, spasmus nutans was throught to be the most likely diagnosis. All three patients had tumors that involved the third ventricular region and optic chiasm.
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PMID:Spasmus nutans: a mistaken identity. 738 67

The diagnosis of patients with rod monochromatism (RM) and blue-cone monochromatism (BCM) may be difficult. The relative direction and symmetry of nystagmus of the two eyes, as well as the existence or nature of rhythmic head movements, are not known. We analyzed simultaneous eye and head movement recordings of 16 patients with RM and three patients with BCM. Longitudinal examinations were performed in seven patients. Younger patients had pendular, intermittent or continuous oblique nystagmus with both eyes oscillating in phase or out of phase with equal amplitudes. Older patients had continuous symmetrical oblique jerk nystagmus with decreasing velocities in the slow phase. In two children, we demonstrated evolution from pendular to predominantly jerk nystagmus. Rhythmic head movements were detected in all children. Patients with RM and BCM exhibit a distinct entity of nystagmus and can be differentiated from patients with congenital or latent nystagmus. However, eye and head movements can mimic spasmus nutans.
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PMID:Eye and head movements in patients with achromatopsia. 792 69

The authors report two cases of spasmus nutans (a clinical syndrome peculiar to infancy the complete form of which is characterised by nystagmus, rhythmic head movements and wryneck) in two extra-EEC infants. The following elements were present in both patients: scarce exposure to light, early introduction of whole cow's milk, rachitic stigmata, dark skin, poor socio-economic conditions and rapid and complete remission of symptoms following daily exposure to sunlight. It is important to distinguish spasmus nutans, a completely benign and self-restricting disease, from potentially severe conditions which may appear with similar symptoms. It should be expected that this clinical condition will become more frequent in view of the considerable increase in the size of the non-EEC population.
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PMID:[Spasmus nutans. A re-emergent pathology?]. 793 54


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