Neuropediatrics 2000; 31(4): 218-221
DOI: 10.1055/s-2000-7463
Short Communication

Georg Thieme Verlag Stuttgart · New York

Polymicrogyria and Motor Neuropathy in Micro Syndrome

M.-C. Nassogne1 , B. Henrot1 , C. Saint-Martin2 , H. Kadhim1 , W. B. Dobyns3 , G. Sébire1
  • 1 Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, Bruxelles, Belgium
  • 2 Service de Radiologie Pédiatrique, Cliniques Universitaires Saint-Luc, Bruxelles, Belgium
  • 3 Department of Human Genetics, Neurology and Pediatrics, University of Chicago, Chicago, IL, USA
Further Information

Publication History

Publication Date:
31 December 2000 (online)

Micro syndrome is a rare condition in which congenital cataracts, microphthalmia, and facial dysmorphism are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation. We report on polymicrogyria and motor neuropathy in a patient with Micro syndrome. These findings provide new insights into developmental defects underlying motor and mental disabilities.

References

  • 1 Casteels I, Wijnants A, Casaer P, Eggermont E, Misotten L, Fryns J P. Cerebro-oculo-facio-skeletal (COFS) syndrome: the variability of presenting symptoms as a manifestation of two subtypes?.  Gen Couns. 1991;  2 43-46
  • 2 Del Bigio M R, Greenberg C R, Rorke L B, Schnur R, McDonald-McGinn D M, Zackai E H. Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome.  J Neuropathol Exp Neurol. 1997;  56 1147-1157
  • 3 Jones K L. Smith's Recognizable Patterns of Human Malformations. 5th ed. Philadelphia; WB Saunders 1995
  • 4 Mégarbamé A, Choueiri R, Bleik J, Mezzina M, Caillaud C. Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?.  J Med Genet. 1999;  36 637-640
  • 5 Online Mendelian Inheritance in Man, OMIM (TM) .McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/. 2000
  • 6 Norman M G, McGillivray B C, Kalousek D K, Hill A, Paskitt K J. Congenital Malformations of the Brain: Pathological, Embryological, Clinical, Radiological and Genetic Aspects. New York; Oxford University Press 1995
  • 7 Rodriguez Criado G, Rufo M, Gomez de Terreros I. A second family with Micro syndrome.  Clin Dysmorphol. 1999;  8 241-245
  • 8 Sakai T, Kikuchi F, Takashima S, Matsuda H, Watanabe N. Neuropathological findings in the cerebro-oculo-facio-skeletal (Peña-Shokeir II) syndrome.  Brain Dev. 1997;  19 58-62
  • 9 Slavotinek A M, Pike M, Mills K, Hurst J A. Cataract, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?.  Am J Med Genet. 1996;  62 42-47
  • 10 Warburg M, Sjö O, Fledelius H C, Pedersen S A. Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism: Micro syndrome.  Am J Dis Child. 1993;  147 1309-1312

M. D., Ph. D. Marie-Cécile Nassogne

Service de Neurologie Pédiatrique Cliniques Universitaires Saint-Luc

Avenue Hippocrate 10/1062

1200 Bruxelles

Belgium

Email: E-mail: nassogne@cell.ucl.ac.be

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