Linked Life Data

2435443

Source:http://linkedlifedata.com/resource/pubmed/id/2435443

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1987-4-29
pubmed:abstractText
Thirteen children with progressive neuronal degeneration and liver disease are reported. Clinical features included developmental delay after a normal initial period with later onset of intractable epilepsy. The EEG showed an unusual but characteristic pattern, and visual evoked responses (VER) were abnormal. Rapidly progressive cerebral atrophy was seen on computerized axial tomography (CAT). Inheritance was consistent with an autosomal recessive trait. Pathological findings were neuronal degeneration and spongy change of the cerebral cortex. The calcarine cortex was more severely affected than other areas. Hepatic lesions included severe fatty change and cirrhosis. In six patients liver disease was detected before the onset of epilepsy and exposure to anticonvulsants. Two others were reported to have died from sodium valproate (SV) toxicity, but both had abnormal liver enzymes before treatment with SV, and in both the neuropathological findings were indicative of PNDC. During life, PNDC may be indicated by the characteristic clinical course, abnormal liver function tests, and abnormalities of EEG, VER, and CAT.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0009-9228
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
167-73
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
Progressive neuronal degeneration of childhood (PNDC) with liver disease.
pubmed:publicationType
Journal Article