title: Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome.
abstract: BACKGROUND
  Horizontal gaze palsy and progressive scoliosis is caused by mutations in the ROBO3 gene, which plays a role in axonal guidance during brain development. Horizontal gaze palsy and progressive scoliosis is characterized by the congenital absence of conjugate lateral eye movements with preserved vertical gaze and progressive scoliosis as well as dysgenesis of brainstem structures and ipsilateral projection of the pyramidal tract.
  
  
  METHODS
  A 4-year, 11-month, girl presented with psychomotor retardation and autistic traits. Magnetic resonance imaging revealed hypoplasia and malformation of the ventral portion of the pons and medulla oblongata. Diffusion tensor imaging revealed the absence of decussation of the bilateral pyramidal tracts. These findings were similar to the typical findings for horizontal gaze palsy and progressive scoliosis. However, restriction of horizontal eye movement was minimal, and bilateral polymicrogyria were also noted in the occipitotemporal cortex in the present patient. These findings have not been previously reported in patients with horizontal gaze palsy and progressive scoliosis. No mutations in the ROBO3, SLIT1, SLIT2, NTN1, SEMA3 A, or SEMA3 F genes were identified.
  
  
  CONCLUSIONS
  This child may have a disorder caused by an unidentified factor, other than a mutation in the genes analyzed, involved in corticogenesis, axonal guidance, and brainstem morphogenesis.
authors: Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan; Department of Pediatrics, National Hospital Organization Utano Hospital, Ukyo-ku, Kyoto, Kyoto, Japan. Electronic address: m-kap@hotmail.co.jp.
authors: Kaori
authors: K
authors: Irahara
authors: Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors: Yoshiaki
authors: Y
authors: Saito
authors: Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors: Kenji
authors: K
authors: Sugai
authors: Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors: Eiji
authors: E
authors: Nakagawa
authors: Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors: Takashi
authors: T
authors: Saito
authors: Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors: Hirofumi
authors: H
authors: Komaki
authors: Department of Radiology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors: Yasuhiro
authors: Y
authors: Nakata
authors: Department of Radiology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors: Noriko
authors: N
authors: Sato
authors: Department of Pediatrics, Saitama Medical University Hospital, Saitama, Japan.
authors: Kazumi
authors: K
authors: Baba
authors: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors: Toshiyuki
authors: T
authors: Yamamoto
authors: Department of Neurology and the Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland.
authors: Wai-Man
authors: WM
authors: Chan
authors: Department of Neurology and the Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland.
authors: Caroline
authors: C
authors: Andrews
authors: Department of Neurology and the Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland.
authors: Elizabeth C
authors: EC
authors: Engle
authors: Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors: Masayuki
authors: M
authors: Sasaki
mesh_terms: D000015:Abnormalities, Multiple; D002675:Child, Preschool; D056324:Diffusion Tensor Imaging; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D065706:Polymicrogyria / Q000473:pathology* / Q000503:physiopathology; D011149:Pons / Q000002:abnormalities* / Q000503:physiopathology; D011712:Pyramidal Tracts / Q000002:abnormalities* / Q000503:physiopathology; D013577:Syndrome
keywords: axonal guidance; brainstem hypoplasia; decussation of the pyramidal tract; horizontal gaze palsy; polymicrogyria; pontine malformation; progressive scoliosis