Neuropediatrics 2001; 32(6): 325-329
DOI: 10.1055/s-2001-20409
Short Communication

Georg Thieme Verlag Stuttgart · New York

Autosomal Recessive Polymicrogyria with Infantile Spasms and Limb Deformities

F. Ciardo1 , N. Zamponi2 , N. Specchio3 , L. Parmeggiani3,4 , R. Guerrini3
  • 1 Department of Neurosciences, Paediatric Neurology, “Tor Vergata” University of Roma, Roma, Italy
  • 2 Paediatric Neurology Department, Children's Hospital G.Salesi, Ancona, Italy
  • 3 Institute of Child Health and Great Ormond Street Hospital, University College London, London, UK
  • 4 INPE-IRCCS Stella Maris Foundation, University of Pisa, Pisa, Italy
Further Information

Publication History

Publication Date:
27 February 2002 (online)

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.

Polymicrogyria · Distal arthrogryposis · Infantile spasms · Mental retardation

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Prof. R. Guerrini

Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust

The Wolfson Centre, Mecklenburgh Square

London WC1N 2AP

United Kingdom

Email: R.Guerrini@ich.ucl.ac.uk

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