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American Journal of Neuroradiology 24:394-397, March 2003
© 2003 American Society of Neuroradiology

Case Report
PEDIATRICS

Middle Interhemispheric Variant of Holoprosencephaly Associated with Diffuse Polymicrogyria

Jun-ichi Takanashia, A. James Barkovicha, Nancy J. Cleggb and Mauricio R. Delgadob

a Neuroradiology Section, Department of Radiology, University of California San Francisco
b Carter Centers for Brain Research in Holoprosencephaly, Department of Neurology, Texas Scottish Rite Hospital for Children, Dallas

Address reprint requests to Jun-ichi Takanashi, MD, Department of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba-shi, Chiba 260-8677, Japan

Summary: An 11-month-old boy was discovered to have a cleft palate, club foot, hypospadias, and myoclonic seizures. No in utero exposure to teratogens was identified. Brain MR imaging revealed a middle interhemispheric fusion variant of holoprosencephaly, diffuse polymicrogyria, and a hypoplastic brain stem; this was a distinctly unusual association of findings. We hypothesize that an unknown genetic factor causes disturbances of cleavage of the prosencephalon as well as neuronal migration and organization.




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S. B. Pulitzer, E. M. Simon, T. M. Crombleholme, and J. A. Golden
Prenatal MR Findings of the Middle Interhemispheric Variant of Holoprosencephaly
AJNR Am. J. Neuroradiol., June 1, 2004; 25(6): 1034 - 1036.
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Copyright © 2008 by the American Society of Neuroradiology. Print ISSN: 0195-6108 Online ISSN: 1936-959X