Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease?
J Pediatr
; 159(3): 466-471.e1, 2011 Sep.
Article
em En
| MEDLINE
| ID: mdl-21429505
ABSTRACT
OBJECTIVE:
To define the neurologic characteristics and course of ataxia-telangiectasia (A-T). STUDYDESIGN:
Retrospective cross-sectional chart study of 57 children (ages 2 to 19 years) followed at an A-T clinic. Cerebellar and extracerebellar symptoms were graded according to degree of functional impairment. Head circumferences were plotted from the charts and z-scores were calculated and compared with that of family members.RESULTS:
Ataxia was present in 87.7%, followed by dysarthria (82.1%), dysmetria (75.4%), bradykinesia (69.2%), hyperkinetic movements (58.9%), and dystonia (15.8%). All features aggravated with age. The most striking clinical observation in our patients was low head circumference (z-score below 1), which was present in 60.9%; 17% had true microcephaly (z-score below 2). Microcephaly appeared postnatally, was proportionate to height and weight, and did not correlate with severity of ataxia or genotype.CONCLUSIONS:
In addition to cerebellar ataxia, extrapyramidal symptoms, especially bradykinesia, were frequent and disabling. Microcephaly is an integral part of A-T; understanding its pathogenesis may shed light on the mechanism by which ATM mutation causes dysfunction in the nervous system.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxia Telangiectasia
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Cefalometria
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Microcefalia
Tipo de estudo:
Etiology_studies
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Observational_studies
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Prevalence_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Israel