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)

We describe 10 infants with developmental delay and congenital cerebral anomalies who were found to have had in utero exposure to vasoactive drugs. Nine infants had ophthalmological abnormalities; these included strabismus, nystagmus, and/or hypoplastic optic discs. Six mothers used cocaine, one used cocaine and heroin, one used only heroin, one used amphetamine, and one used phenylpropanolamine. Each of these cerebral anomalies (agenesis of the corpus callosum, septo-optic dysplasia, schizencephaly, hydranencephaly, congenital hydrocephalus, porencephaly, and cerebral infarctions) can be attributed to insults at different stages of development. There appears to be a relationship between the time of prenatal drug exposure and the type of cerebral anomaly, evoking malformations, disruptions, or fetal strokes. Since many or possibly all of these anomalies are thought to have a vascular origin, it seems appropriate to implicate prenatal exposure to vasoactive drugs.
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PMID:Brain and ocular abnormalities in infants with in utero exposure to cocaine and other street drugs. 161 Apr 54

We report on an infant male who presented with microcephaly of prenatal onset, schizencephaly, decorticated disturbance of the neurological function, congenital optic atrophy, abnormal eye movements and nystagmus. In addition, he had a skeletal dysplasia with predominant acromelic involvement and a renal disease characterized by both nephritic and nephrotic changes. The natural history of his condition included severe postnatal failure to thrive, lack of development of psychomotor milestones, intractable seizures, terminal renal insufficiency with early death. Such spectrum of phenotypic abnormalities has never been reported before and we suggest that it may represent a new syndromic entity. The differential diagnosis with the oculo-skeletal-renal syndromes, with the osteodysplastic primordial dwarfism of the Taybi-Linder type and with the Hutterite cerebro-osteo-nephrodysplasia, is discussed.
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PMID:A new syndrome with cerebro-oculo-skeletal-renal involvement. 225 Oct 13

Schizencephaly is a developmental disorder of the human brain caused by a defect of neuronal migration. We observed a 7 month old african boy suffering from nystagmus and hemiparesis. The neuroimaging reveals a large cleft in cortical and subcortical structures and typical changes of polymicrogyria. In the differential-diagnosis encephaloclastic porencephaly should be considered.
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PMID:[Schizencephaly]. 232 49

From June. 1987 to Dec. 1988, data was collected from 12 cases with Congenital Brain Anomalies. The cases involved 7 girls and 5 boys with ages ranging from 2 days to 15 years old. Abnormalities diagnosed were Cavum-septi pellucidi; Cavum vergae; Cystic dilated cavum; Cavum veli interpositi; Lissencephaly with dysgenesis of the corpus callosum; Dysgenesis of the corpus callosum associated the midline dorsal cyst; Holoprosencephaly, alobar type; Schizencephaly associated with Hydranencephaly; Encephaloclastic porencephaly; Severe hydrocephalus; Variant type of Dandy-Walker cyst with dysgenesis of the corpus callosum; Arnold-Chiari malformation. The patients were initially seen OPD primarily for seizures and other complaints such as nystagmus with visual impairment, hypotonia, facial anomalies, Yolk-sac tumor, prematurity, dyspnea and hydrocephalus. Among these, Holoprosencephaly was easiest to diagnose because it was combined with facial anomalies. However the others required evaluation by CT. CT offers very efficient diagnostic modality which is better than a Cranial Echo. It is also safer than the invasive angiography and not as expensive as MRI.
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PMID:[Congenital anomalies of the brain in computed tomography]. 276 27