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Neurology 2002;59:1637-1640
© 2002 American Academy of Neurology
Brief Communications

Late infantile Hirschsprung disease–mental retardation syndrome with a 3-bp deletion in ZFHX1B

M. Yoneda, MD PhD, T. Fujita, MD, Y. Yamada, PhD, K. Yamada, PhD, A. Fujii, MD, T. Inagaki, MD, H. Nakagawa, MD PhD, A. Shimada, MD PhD, M. Kishikawa, MD PhD, M. Nagaya, MD, T. Azuma, MD PhD, M. Kuriyama, MD PhD and N. Wakamatsu, MD PhD

From the Second Department of Internal Medicine (Drs. Yoneda, Inagaki, Nakagawa, Azuma, and Kuriyama), Fukui Medical University, Fukui; Fujita Neurological Hospital (Drs. Fujita and Fujii), Fukui; and Departments of Genetics (Drs. Y. Yamada, K. Yamada, and Wakamatsu) and Morphology (Drs. Shimada and Kishikawa), Institute for Developmental Research, and Department of Pediatric Surgery (Dr. Nagaya), Central Hospital, Aichi Human Service Center, Aichi, Japan.

Address correspondence and reprint requests to Dr. Makoto Yoneda, the Second Department of Internal Medicine, Fukui Medical University, Matsuoka-cho, Fukui 910-1193, Japan; e-mail: myoneda{at}fmsrsa.fukui-med.ac.jp

A 48-year-old woman with late infantile onset mental retardation developed megacolon. Although the patient had no typical clinical features of Hirschsprung disease–mental retardation syndrome, a new 3–base pair deletion, eliminating an Asn, was identified in the responsible gene ZFHX1B. This suggests that screening for ZFHX1B mutations is warranted even in the absence of typical clinical features of the syndrome.




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