Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the presence of major cerebral migrational defects in five severely, multiply handicapped children with congenital cytomegalovirus (CMV) infection. These patients had both computed tomographic (CT) scan and magnetic resonance imaging (MRI) evidence of marked migrational central nervous system defects consistent anatomically with the spectrum of lissencephaly-pachygyria, a disorder commonly idiopathic or associated with chromosomal abnormalities or with unknown early gestational insults. Neuroradiologic features included broad, flat gyri, shallow sulci, incomplete opercularization, ventriculomegaly, periventricular calcifications, and white-matter hypodensity on CT scans or increased signal intensity on long-TR MRI scans. Evidence for congenital CMV infection included prenatal onset of microcephaly, periventricular calcifications, neonatal jaundice, hepatomegaly, elevated CMV-specific immunoglobulin M, or viral isolation from urine. Previous reports of the neurologic sequelae of CMV have emphasized varying degrees of psychomotor retardation, cerebral palsy and epilepsy due to polymicrogyria, periventricular calcification, microcephaly, or rarely, hydrocephalus. Our patients appear to represent extremely severe examples of the effects of CMV on neurologic growth, maturation, and development. Recognition of these severe migrational abnormalities was improved by use of MRI, a technique that affords superior definition of the nature and extent of gyral and white-matter abnormalities. We suggest that these abnormalities may be more common than has previously been recognized.
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PMID:Lissencephaly-pachygyria associated with congenital cytomegalovirus infection. 164 53

Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings and limb contractures are its key features. We present a stillborn female baby of 1.5 kg with characteristic features including growth retardation, microcephaly, severe ectropion, micrognathia, flattened nose, eclabion, large ears, puffy hands and feet. In addition to these features, lissencephaly, severely hypoplastic cerebrum and corpus callossum, Dandy-Walker malformation, Transposition of Great Vessels and hepatomegaly were noted at autopsy. The patient was born at 38 weeks of gestation to consanguineous (second degree) Indian parents. The mother was 26 year old second gravida with lack of prenatal followup. Therefore, the condition was diagnosed postnatally. Because of the autosomal recessive inheritence of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk to offer termination of affected pregnancies.
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PMID:Rare manifestations of Neu-Laxova syndrome. 2223 3