Autosomal recessive polymicrogyria with infantile spasms and limb deformities

F. Ciardo, N. Zamponi, N. Specchio, L. Parmeggiani, R. Guerrini

Research output: Contribution to journalArticle

8 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)325-329
Number of pages5
JournalNeuropediatrics
Volume32
Issue number6
DOIs
Publication statusPublished - 2001

Fingerprint

Infantile Spasms
Siblings
Extremities
MM Form Creatine Kinase
Spasm
Anticonvulsants
Lower Extremity
Parents
Biopsy
Polymicrogyria
Therapeutics

Keywords

  • Distal arthrogryposis
  • Infantile spasms
  • Mental retardation
  • Polymicrogyria

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Autosomal recessive polymicrogyria with infantile spasms and limb deformities. / Ciardo, F.; Zamponi, N.; Specchio, N.; Parmeggiani, L.; Guerrini, R.

In: Neuropediatrics, Vol. 32, No. 6, 2001, p. 325-329.

Research output: Contribution to journalArticle

Ciardo, F. ; Zamponi, N. ; Specchio, N. ; Parmeggiani, L. ; Guerrini, R. / Autosomal recessive polymicrogyria with infantile spasms and limb deformities. In: Neuropediatrics. 2001 ; Vol. 32, No. 6. pp. 325-329.
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