Linked Life Data

17980993

Source:http://linkedlifedata.com/resource/pubmed/id/17980993

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-4-14
pubmed:abstractText
We herein report on a Japanese boy with infantile neuronal ceroid lipofuscinosis (INCL). He was born of incest to a girl and her maternal uncle. His development was normal at 12 months, and began to display regression at 14 months. He lost his social smile and tracking eye movement at 16 months, and could not stand and developed severe hypotonic tetraplegia at 19 months. Myoclonic movement was observed in his trunk, eye and extremities. His height, body weight and head circumstance had been normal. Both MRI and CT scans of his head showed severe cerebral, cerebellar and brainstem atrophy. The electroretinogram showed a decrease in amplitude. Enzyme studies revealed a deficiency of palmitoyl-protein thioesterase activity in his lymphocytes at 0.98 nmol/h/mg protein (control: 90.99+/-34.23). This is the first case of INCL in Japan diagnosed by enzyme activity deficiency.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0387-7604
pubmed:author
pubmed:issnType
Print
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
370-3
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Infantile neuronal ceroid lipofuscinosis: the first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency.
pubmed:affiliation
Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Iseigaoka 1-1, Yahatanishi, Kitakyushu 807-8555, Japan.
pubmed:publicationType
Journal Article, Case Reports