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)

Patients with progressive generalized cone dystrophy often present nystagmus (or strabism) and complain of photophobia, decrease in visual acuity or disturbances in colour perception. The most classic fundus abnormality is the bull's eye maculopathy or a pallor of the optic disc. Minimal macular changes are sometimes seen, which may progress to a bull's eye type of macular degeneration. The photopic ERG is always very affected, whereas at first the scotopic ERG seems normal. Progressive deterioration of the visual functions is accompanied by increasing fundus lesions and rod involvement, as suggested by the modifications of the dark adaptation curve and the scotopic ERG. However, the progression of typical generalized cone dysfunction is very slow. On the contrary, in some cases of so-called Stargardt's disease with peripheral participation, a very rapid progression has been observed. In such cases a normal ERG does not necessarily mean that the disease will remain localized to the macular area. No definite prognosis can be made on one single ERG. In 3 cases with sector pigmentary retinopathy the photopic ERG was more affected than the scotopic ERG. However, these cases are probably primary cone-rod dystrophies. Although there is no electrophysiological control, our clinical impression is that the evolution, if possible, is very slow.
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PMID:Progressive cone dystrophies. 106 93

Cornelia de Lange Syndrome (CDLS) is characterized by mental retardation, growth retardation, skeletal anomalies, and a characteristic facies. We examined 22 children with CDLS to ascertain the relative frequencies of oculofacial and ophthalmologic abnormalities. We confirm prior reports of the frequent findings of brow hypertrichosis, synophrys, and long arcuate eyelashes. In addition we documented the association with ptosis, nystagmus, and high myopia. Contrary to previous reports, we did not find blue sclera or corneal, pupillary, or retinal disorders to be part of this syndrome. Hypertelorism and telecanthus were found, but they were dependent on the method of calculation. Two children had optic nerve pallor. We also report the new findings of poor macular reflex, chin lifts induced by ptosis, hypertropia, and nasolacrimal duct fistula.
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PMID:Ophthalmologic findings in the Cornelia de Lange syndrome. 234 18

From 6 months of age on this girl experienced frequent episodes of hemiplegia involving both sides of the body and lasting up to 8 days. The attacks were often precipitated by tonic deviation of the head and/or the eyes to one side and nystagmus. At this stage the girl used to cry. Squinting, tonic stiffening of body and extremities, and dystonic posturing also occurred. Autonomic dysfunctions such as paleness of the skin, sweating, respiratory embarrassment, tachycardia, and mydriasis were associated features of the attacks. Motor and mental development of the girl is delayed. Improvement concerning severity, duration and frequency of the attacks has been achieved by permanent treatment with flunarizine in combination with acetazolamide and acetylsalicylic acid. If the child falls asleep immediately after rectal application of chloral hydrate at the onset of an attack there is no hemiplegia after awakening.
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PMID:[Alternating hemiplegia in childhood. Clinical report and single photon emission computed tomography study]. 326 84

Fifteen children with a syndrome called benign paroxysmal vertigo are presented. This syndrome is characterized by attacks of vertigo of sudden onset lasting a few minutes and in extreme cases several hours or even up to 2 days. Additional symptoms are pallor, sweating, vomiting and nystagmus. Consciousness is not impaired. The attacks usually occur in the first 4 years of life. They are recurrent, the appearance varying from several times a week to once a year, and they may cease spontaneously after only months but usually years. The most important differential diagnoses are epilepsy and posterior fossa tumour. The etiology is unknown, but there may be a vascular disturbance affecting the posterior cerebral circulation with secondary disturbances of the vestibular nuclei.
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PMID:Benign paroxysmal vertigo in childhood. 706 11

The authors examined refractive error, pattern onset visual evoked potentials, ocular posture and they performed internal and external eye examinations in 11 subjects with Rett syndrome (aged between four and 24 years) and 18 normal controls (aged between six and 20 years). Substantial refractive errors were common in the Rett syndrome group. Spectacle correction had never previously been worn and glasses were provided where appropriate. No subjects had nystagmus or optic nerve pallor and only one was strabismic. All subjects had recognisable and reproducible pattern-onset VEPs and latencies and amplitudes did not differ significantly from those of the controls. All demonstrated VEP thresholds of at least 24'. In contrast to other populations with profound disabilities, people with Rett syndrome have good function of the afferent visual pathways and, in view of their substantial refractive errors, are likely to benefit from spectacle correction.
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PMID:Visual function in Rett syndrome. 778 59

A 15-month-old girl with severe hemolytic anemia and progressive respiratory failure is presented. She was well until the age of six months when she developed a pulmonary infection. During the next six months, she had frequent respiratory infections and her paleness became evident. At the age of 12 months, she was observed to have easy fatigability and muscle weakness, and she received her first blood transfusion. She was referred to our hospital at the age of 15 months. The physical examination revealed a malnourished girl with hypotonia, nystagmus, generalized muscle weakness and severe breathing difficulty requiring ventilatory support The hemoglobin (Hb) was 9.7 g/dl; hematocrit (Hct) 29%, mean corpuscular volume (MCV) 101 fl and reticulocyte count 15%. Peripheral blood smear revealed macrocytosis and stomatocytosis (30% of the red cells) and polychromasia. Sweat chloride test was 90 and 94 mEq/L on two separate occasions. The serum vitamin E level was 0.26 mg/dl (N: 0.44-0.68). She was found to be heterozygous for factor V Leiden mutation. Although malnutrition, low serum vitamin E and elevated sweat chloride test were suggestive of cystic fibrosis, this diagnosis failed to account for all the findings in the patient. A search for a red cell enzyme deficiency revealed that the red cell triosephosphate isomerase (TPI) activity was low. DNA analysis showed the 315 G-C (105 Glu-Asp) TPI mutation, thus confirming the diagnosis of TPI deficiency.
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PMID:Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case. 1119 50

The purpose of this study was to quantify the effects of repetitive Coriolis and cross-coupled stimulations, similar to the vestibular training the cosmonauts are exposed to prior to their spaceflight. on vestibular function in control subjects on Earth. Ten volunteers were passively rotated in yaw on a rotating chair while executing standardized pitch head-and-trunk movements. The chair stopped to change direction after 12 head-and-trunk movements were made. The runs were grouped in sessions of ten,which were repeated daily for 10 days. The severity of motion sickness was assessed by subjective judgment and measurements of skin pallor and salivary total protein concentration, and nystagmus was recorded. The severity of motion sickness and nystagmus decreased during cosmonaut vestibular training (CVT). One month after the end of CVT, nystagmus responses were still about 20-30% lower than control values. These results indicate that CVT induces a habituation of vestibular responses. One important implication of this experiment concerns space studies on cosmonauts who are exposed to such vestibular training prior to their spaceflight.
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PMID:Effects of cosmonaut vestibular training on vestibular function prior to spaceflight. 1171 82

Images of the fundus were acquired in children without pupil dilation using a prototype handheld confocal scanning laser ophthalmoscope (SLO). A 780-nm laser beam imaged a 20 degrees x 20 degrees area of the fundus while a 645-nm beam scanned a fixation target. Scorable images of the optic nerve, macula, and vessels were obtained in 67 (72%) of 93 eyes from pediatric patients with nystagmus, amblyopia, media opacities, or optic nerve or macular abnormalities. Images were obtained in all eyes of pediatric and adult controls. Unsuccessful imaging was associated with media opacities, high refractive error, and poor cooperation. Disadvantages of the SLO were the inability to detect optic nerve pallor or consistently image the periphery. Advantages of the SLO were seen in children with nystagmus, photophobia, eccentric fixation, cone dystrophy, and mild papilledema.
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PMID:Imaging a child's fundus without dilation using a handheld confocal scanning laser ophthalmoscope. 1261 11

This case depicts an unusual presentation of septo-optic dysplasia. A four-year-old female presented with monocular nystagmus and temporal optic disc pallor in her left eye. Despite a normal sized optic nerve head, magnetic resonance imaging (MRI) showed a hypoplastic intraorbital and intracranial left optic nerve in the absence of a septum pellucidum. She was subsequently diagnosed with septo-optic dysplasia with sectoral optic nerve head hypoplasia.
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PMID:Monocular nystagmus with sectoral optic nerve hypoplasia in a patient with septo-optic dysplasia. 1863 9

Clinical lateralizing signs are the phenomena which can unequivocally refer to the hemispheric onset of epileptic seizures. They can improve the localization of epileptogenic zone during presurgical evaluation, moreover, their presence can predict a success of surgical treatment. Primary sensory phenomena such as visual aura in one half of the field of vision or unilateral ictal somatosensory sensation always appear on the contralateral to the focus. Periictal unilateral headache, although it is an infrequent symptom, is usually an ipsilateral sign. Primary motor phenomena like epileptic clonic, tonic movements, the version of head ubiquitously appear contralateral to the epileptogenic zone. Very useful lateralization sign is the ictal hand-dystonia which lateralizes to the contralateral hemisphere in nearly 100%. The last clonus of the secondarily generalized tonic-clonic seizure lateralizes to the ipsilateral hemisphere in 85%. The fast component of ictal nystagmus appears in nearly 100% on the contralateral side of the epileptic focus. Vegetative symptoms during seizures arising from temporal lobe such as spitting, nausea, vomiting, urinary urge are typical for seizures originating from non-dominant (right) hemisphere. Ictal pallor and cold shivers are dominant hemispheric lateralization signs. Postictal unilateral nose wiping refers to the ipsilateral hemispheric focus compared to the wiping hand. Ictal or postictal aphasia refers to seizure arising from dominant hemisphere. Intelligable speech during complex partial seizures appears in non-dominant seizures. Automatism with preserved consciousness refers to the seizures of non-dominant temporal lobe.
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PMID:[Brain lateralization and seizure semiology: ictal clinical lateralizing signs]. 1876 78


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