Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2000-8-30
pubmed:abstractText
Infantile Huntington's disease (HD) shows a wide clinical heterogeneity. Here we describe the case of a child affected by HD who showed unusual neurological features consistent with tourettism. The absence of family history and persisting normal magnetic resonance imaging (MRI) results long after the onset of symptoms delayed the diagnosis of the disease. An MRI exam performed 26 months after disease onset disclosed bilateral atrophy in the putamen, suggesting HD. The diagnosis was confirmed by genetic analysis. The present report underlines the need to consider HD in childhood cases of unusual and even unfamiliar progressive movement disorders.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0392-0461
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
383-5
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Tourettism as clinical presentation of Huntington's disease with onset in childhood.
pubmed:affiliation
Department of Child Neurology, National Neurological Institute C. Besta, Milan, Italy.
pubmed:publicationType
Journal Article, Case Reports