Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Observations over 28 patients with benign intracranial hypertension, aged from 15 to 50 years, of them 25 women and 3 men, have shown that among possible etiologic factors of benign intracranial hypertension there appeared to be pregnancy in 19 women, respiratory infection--in 3 patients, climacterium--in 2, hypothyrosis--in 2, galactorrhea-amenorrhea--in 1, mild craniocerebral trauma--in 1; 75% of patients had excessive body mass. Among main symptoms of benign intracranial hypertension there were head pains (100%), congestive optic discs (100%), rise of csf pressure (87.5%), nausea and vomiting (80%). In a part of patients there was obnubilation (7), nystagmus (4), damage of the abducent nerve (4), retro-orbital pains (3), transient disturbances of visual functions (fall of visual acuity in 5, defects of visual field in 5). In I woman amaurosis in both eyes remained. The duration of the disease varied from 2 months to 2 years. In 3 women there were recurrences of benign intracranial hypertension.
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PMID:[The symptom of congestive optic disks in the benign intracranial hypertension syndrome]. 279 79

Two adult sisters have vermian hypoplasia, ataxia, nystagmus, pontine divergence insufficiency, and mild to moderate intellectual disability, with an arrest of cerebral myelination resembling the pattern of a 4-month-old infant. Other abnormalities include high myopia, optic nerve hypoplasia, decreased bone density, hypoplasia of the secondary teeth, and amenorrhea. We did not find matching patients described in the literature. The sisters could represent a variant of one of the described syndromes of the cerebellocerebro-oculorenal spectrum, such as a variant of Joubert's syndrome, or a disorder sui generis within the spectrum.
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PMID:Vermian hypoplasia and arrested cerebral myelination in two sisters: variant of Joubert's syndrome or a new syndrome? 1469 2