Neuropediatrics 2001; 32(5): 264-266
DOI: 10.1055/s-2001-19121
Short Communication

Georg Thieme Verlag Stuttgart · New York

Multiple Pterygium Syndrome, Bilateral Periventricular Nodular Heterotopia and Epileptic Seizures - a Syndrome?

M. Holtmann1 , F. G. Woermann2 , H. E. Boenigk2
  • 1 Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Mannheim, Germany
  • 2 Kidron Hospital for Children, Bethel Epilepsy Centre, Bielefeld, Germany
Further Information

Publication History

Publication Date:
18 December 2001 (online)

Abstract

We present the clinical, neurophysiological and radiographic findings in a boy with coexisting multiple pterygium syndrome, bilateral periventricular nodular heterotopia (BPNH), mental retardation and epileptic seizures. This constellation has not been previously reported. We discuss the possibility of a new BPNH syndrome associated with multiple pterygium syndrome in our patient.

References

  • 1 Brodtkorb E, Torbergsen T, Nakken K O, Andersen K, Gimse R, Sjastaad. Epileptic seizures, arthrogryposis, and migrational brain disorder: A syndrome?.  Acta Neurol Scand. 1994;  90 232-240
  • 2 Bussière J A. L'homme au cou de Chapelle, developpement anormal d'un faisceau musculaire acromiomastoidienne rudimentaire, malformation congénitale rare, observé à Pondichery.  Ann Hyg Med Colon. 1902;  5 686-688
  • 3 Dobyns W B, Guerrini R, Czapansky-Beilmann D K, Pierpont M EM, Breningstall G, Yock D H, Bonanni P, Truwit C L. Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: A new X-linked mental retardation syndrome.  Neurology. 1997;  49 1042-1047
  • 4 Escobar V, Bixler D, Gleiser S, Weaver D D, Gibbs T. Multiple pterygium syndrome.  Am J Dis Child. 1978;  132 609-611
  • 5 Guerrini R, Dobyns W B. Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation.  Neurology. 1998;  51 499-503
  • 6 Gropman A L, Barkovich A J, Vezina L G, Conry J A, Dubovsky E C, Packer R J. Pediatric congenital bilateral perisylvian syndrome: Clinical and MRI features in 12 patients.  Neuropediatrics. 1997;  28 198-203
  • 7 Hall J G, Reed S D, Rosenbaum K N, Gershanik J, Chen H, Wilson K M. Limb pterygium syndromes: A review and report of eleven patients.  Am J Med Genet. 1982;  12 377-409
  • 8 Kuzniecky R, Andermann F, Guerrini R. The epileptic spectrum of the congenital bilateral perisylvian syndrome.  Neurology. 1994;  44 379-385
  • 9 Pashayan H, Dallaire L, MacLeod P. Bilateral aniridia, multiple webs and severe mental retardation in a 47 XXY/48 XXXY mosaic.  Clin Genet. 1973;  4 126-129
  • 10 Priolo M, De Toni T, Baffico M, Cama A, Ser M, Cusano R, Costabello L, Fondelli P, Capra V, Silengo M, Ravazzolo R, Lerone M. Fontaine-farriaux craniosynostosis: Second report in the literature.  Am J Med Genet. 2001;  100 214-218
  • 11 Thomas P, Bossan A, Lacour J P, Chanalet S, Ortonne J P, Chatel M. Ehlers-Danlos syndrome with subependymal periventricular herterotopias.  Neurology. 1996;  46 1165-1167
  • 12 Thompson E M, Donnai D, Baraitser M, Hall C M, Pembrey M E, Fixsen J. Multiple pterygium syndrome: Evolution of the phenotype.  J Med Gen. 1987;  24 733-749

Martin Holtmann

Central Institute of Mental Health, Department of Child and Adolescent Psychiatry and Psychotherapy

P. O. Box 12 21 20

68072 Mannheim

Germany

Email: martinholtmann@aol.com

    >