Autosomal recessive polymicrogyria with infantile spasms and limb deformities.
Neuropediatrics
; 32(6): 325-9, 2001 Dec.
Article
in En
| MEDLINE
| ID: mdl-11870589
ABSTRACT
We describe two siblings, a girl and a boy, aged 4 and 2 years and 10 months respectively, born from non-consanguineous parents,with diffuse polymicrogyria, lower limb deformities, infantile spasms and developmental delay. Spasms had a good outcome under antiepileptic drug treatment. Clinical and imaging features were of identical severity in both siblings. Muscle biopsy,creatine kinase, metabolic investigations and chromosomal analysis were normal. This combination of anatomo-clinical features and their occurrence in siblings of both sexes suggests an autosomal recessive malformation syndrome.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spasms, Infantile
/
Cerebral Cortex
/
Developmental Disabilities
/
Chromosome Aberrations
/
Genes, Recessive
/
Leg
Type of study:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Neuropediatrics
Year:
2001
Document type:
Article
Affiliation country:
Italy