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)

The adult or type 1 Chiari malformation is a hindbrain anomaly in which the cerebellar tonsils, but not the vermis, are chronically dispalced into the foramen magnum (1). Syringomyelia or syringobulbia are frequently associated with the anomaly (2-4). Seventeen cases of surgically verified adult Chiari malformations with or without a syrinx were recently diagnosed at the Neuropsychiatric Institute. University of California at Los Angeles. A review of these patients confirmed this anomaly has protean manifestations. Recognition of paroxysmal complaints induced by a variation of the Valslava maneuver, especially in the presence of nystagmus, might lead to early neurodiagnostic procedures and surgical intervention, with reduced morbidity.
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PMID:The adult Chiari malformation. 61 Jul 83

In a complex study of 42 patients with syringomyelobulbia with the aid of EMG and EEG the author most frequently observed symptoms of damage of the descending root and the nuclei of the 5th nerve, the nuclei of the 9, 10 and 12 nerves, as well as nystagmus and the Horner symptom. The dysraphic signs were marked in 40 patients. Conductive sensoral and motor disturbances, changes of arterial pressure and general vascular reactivity, bioelectrical brain activity, a decrease of gastric secretion were revealed. The significance of some diagnostical signs for recognition of syringobulbia is stressed.
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PMID:[Clinico-physiologic characteristics of syringobulbia]. 67 5

A case of solitary syringobulbia without syringomyelia diagnosed by MRI was reported. A 63-year-old female, who had a history of progressive gait disturbance for 9 months, was admitted to our department because of severe headache. Neurological examination revealed that the patient was suffering from right pyramidal sign as well as left deep sensory disturbance without apparent impairment of cranial nerves or nystagmus. The somatosensory evoked potential stimulated by the left median nerve showed delay in latency and low amplitude, however, the auditory brainstem response showed normal records bilaterally. A syringobulbia associated with platybasia, basilar impression, obstructive hydrocephalus and Arnold-Chiari malformation was diagnosed by the neuroradiological examinations including plain X-ray films of the skull, CT scan and MRI of the brain. Subsequent to the decompression around the cisterna magna by suboccipital craniectomy and laminectomy of the atlas, the opening of the Foramen Monro which was obstructed by a thick membrane was carried out, and prevention of communication between the fourth ventricle and the syrinx was accomplished by using a piece of muscle. This operative procedure was thought to be compatible with Gardner's operation for syringomyelia. The patient showed gradual improvement of gait disturbance as well as headache 3 months after surgery, and this neurological improvement was proved by decrease in the size of the known syringobulbia on MRI, and by normalized somatosensory evoked potential stimulated by the median nerve. Pathophysiology of the solitary syringobulbia with relatively acute onset of the neurological symptoms was assumed to have taken place in the following manner.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of solitary syringobulbia]. 200 Jan 59

See-saw nystagmus has been seen with tumors of the parasellar region and diencephalon, brain-stem vascular lesions, syringobulbia, and after trauma. We report see-saw nystagmus in an adult with a Chiari malformation that was diagnosed by magnetic resonance imaging and confirmed intraoperatively. This patient's condition improved after surgical decompression. An association between see-saw nystagmus and Chiari malformation is potentially important because early diagnosis and decompression may improve neurologic function and prevent further deterioration.
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PMID:See-saw nystagmus associated with Chiari malformation. 394 82

A case of post-traumatic cervico-thoracic syringomyelia was complicated, 3 years after the injury, by a bulbar extension manifested by a downbeat vertical nystagmus which became a source of disabling oscillopsia. The syringobulbia was visualized at MRI. The usefulness of syringostomy in such a case is discussed.
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PMID:[Post-traumatic syringomyelobulbia and inferior vertical nystagmus]. 827 35

Syringobulbia is an uncommon lesion of the central nervous system. It is defined as a pathological cavitation of the brain stem. The most common symptoms are headache, vertigo, dysphonia or dysarthria, trigeminal paraesthesia, dysphagia, diplopia, tinnitus, palatal palsy. Syringobulbia occurs with atlantoaxial congenital abnormalities (Chiari malformation), infection, tumours, and other causes. The idiopathic syringobulbia is however a rare finding. Early surgical treatment is the treatment of choice. We report on a 58-year old female patient with idiopathic syringobulbia. She complained of occipital headaches and vertigo. On examination she had horizontal nystagmus and diplopia. Occipital headaches and vertigo were improved after operation. We review the literature on syringobulbia, and discuss the clinical features of this uncommon condition.
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PMID:[Isolated idiopathic syringobulbia: case report and summary of the literature]. 877 68

Osteogenesis imperfecta (OI) is a heritable disorder of bone development caused by defective collagen synthesis. Basilar invagination is an uncommon but devastating complication of this disease. The authors present a comprehensive strategy for management of craniovertebral anomalies associated with OI and related osteochondrodysplasias. Twenty-five patients with congenital osteochondrodysplasias (18 OI, four Hajdu-Cheney syndrome, and three spondyloepiphyseal dysplasia) and basilar invagination were evaluated between 1985 and 1995. The male/female ratio in this cohort was 1:1. The mean age at presentation was 11.9 years (range 13 months-20 years). Fourteen patients (56%) presented during adolescence (11-15 years of age). Symptoms and signs included headache (76%), lower cranial nerve dysfunction (68%), hyperreflexia (56%), quadriparesis (48%), ataxia (32%), nystagmus (28%), and scoliosis (20%). Four patients (16%) were asymptomatic. Seven (28%) had undergone previous posterior fossa decompression; one had also undergone ventral decompression. Imaging findings included basilar invagination (100%), ventral brainstem compression (84%), hydrocephalus (32%), hindbrain herniation (28%), and syringomyelia/syringobulbia (16%). Patients with hydrocephalus underwent ventricular shunt placement. Reducible basilar invagination (40%) was treated with posterior fossa decompression and occipitocervical fusion. Those with irreducible ventral compression (60%) underwent transoral-transpalatopharyngeal decompression followed by occipitocervical fusion. All patients improved initially. However, basilar invagination progressed radiographically in 80% (symptomatic in 24%) despite successful fusion. Prolonged external orthotic immobilization with the modified Minerva brace afforded symptomatic improvement and arrested progression of the deformity. The mean follow-up period was 5.9 years (range 1.1-10.5 years). Ventral brainstem compression in OI should be treated with ventral decompression, followed by occipitocervical fusion with contoured loop instrumentation to prevent further squamooccipital infolding. Despite fusion, however, basilar invagination tends to progress. Prolonged immobilization (particularly during adolescence) may stabilize symptoms and halt further invagination. This study represents the largest series to date addressing craniovertebral anomalies in OI and related congenital bone softening disorders.
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PMID:Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management. 917 Nov 73

Syringobulbia is an uncommon condition, usually a late complication of syringomyelia. It has predilection for the dorsolateral region of the medulla leading to damage to vestibular nuclei and their connections, as well as to the descending sympathetic fibers. Oscillopsia, nystagmus, and Horner syndrome are frequent manifestations of syringobulbia. Oscillopsia may be a disturbing symptom for the patient, whereas Horner syndrome is usually an asymptomatic finding. MRI detection of syringomyelia has led to earlier treatment of syringomyelia and prevention of upward extension of the cavity. This probably explains why syringobulbia is less frequently encountered at present. We propose to describe the neuro-ophthalmologic symptoms and signs that may be observed in patients with syringobulbia and the mechanisms involved in their appearance.
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PMID:Neuro-ophthalmologic complications of syringobulbia. 2071 20