Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: A new syndrome

Pediatric Neurology

Volumn 50, Issue 4, 2014, Pages 384-388

  Irahara, Kaori ^a,b   Saito, Yoshiaki ^a   Sugai, Kenji ^a   Nakagawa, Eiji ^a   Saito, Takashi ^a   Komaki, Hirofumi ^a   Nakata, Yasuhiro ^a   Sato, Noriko ^a   Baba, Kazumi ^c   Yamamoto, Toshiyuki ^d   Chan, Wai Man ^e,f   Andrews, Caroline ^e,f   Engle, Elizabeth C ^e,f   Sasaki, Masayuki ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b UTANO NATIONAL HOSPITAL   (Japan)

^c SAITAMA MEDICAL UNIVERSITY HOSPITAL   (Japan)

^d TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

axonal guidance; brainstem hypoplasia; decussation of the pyramidal tract; horizontal gaze palsy; polymicrogyria; pontine malformation; progressive scoliosis

Indexed keywords

ABDUCENS NERVE; AGENESIS; ARTICLE; AUTISM; BRAIN CORTEX; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; DIFFUSION TENSOR IMAGING; EVOKED SOMATOSENSORY RESPONSE; EYE MOVEMENT; EYE MOVEMENT DISORDER; FEMALE; GAZE PARALYSIS; GENETIC ANALYSIS; HEAD CIRCUMFERENCE; HORIZONTAL GAZE PALSY AND PROGRESSIVE SCOLIOSIS; HUMAN; HYPOPLASIA; INSULA; MEDULLA OBLONGATA; MICROGYRIA; MOTOR CORTEX; NUCLEAR MAGNETIC RESONANCE IMAGING; PONS; PONTINE MALFORMATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; PYRAMIDAL TRACT; SCOLIOSIS; SUBCORTICAL HETEROTOPIA; TRIGEMINAL NERVE; UNDECUSSATED PYRAMIDAL TRACT; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PATHOPHYSIOLOGY; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; DIFFUSION TENSOR IMAGING; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; POLYMICROGYRIA; PONS; PYRAMIDAL TRACTS; SYNDROME;

EID: 84896373595     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2013.12.013     Document Type: Article

References (14)

1. E.K. Dretakis, and P.N. Kondoyannis Congenital scoliosis associated with encephalopathy in five children of two families J Bone Joint Surg Am 56 1974 1747 1750
2. J.C. Jen, W.M. Chan, and T.M. Bosley et al. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis Science 304 2004 1509 1513 (Pubitemid 38720933)
3. T.M. Bosley, M.A. Salih, and J.C. Jen et al. Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3 Neurology 64 2005 1196 1203
4. A. Rossi, M. Catala, R. Biancheri, R. Di Comite, and P. Tortori-Donati MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis AJNR Am J Neuroradiol 25 2004 1046 1048 (Pubitemid 38765889)
5. N.L. Sicotte, G. Salamon, and D.W. Shattuck et al. Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations Neurology 67 2006 519 521 (Pubitemid 44214989)
6. P.G. Barth, C.B. Majoie, and M.W.A. Caan et al. Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance Brain 130 2007 2258 2266 (Pubitemid 47327643)
7. T. Yamamoto, K. Shimoima, T. Nishizawa, M. Matsuo, M. Ito, and K. Imai Clinical manifestations of the deletion Down syndromcritical region including DYRK1A and KCNJ6 Am J Med Genet A 155A 2011 113 119
8. K. Wong, H.T. Park, J.Y. Wu, and Y. Rao Slit proteins: molecular guidance cues for cells ranging from neurons to leukocytes Curr Opin Genet Dev 12 2002 583 591 (Pubitemid 35013540)
9. C. Sabatier, A.S. Plump, and Ma Le et al. The divergent Robo family protein rig-1/Robo3 is a negative regulator of slit responsiveness required for midline crossing by commissural axons Cell 117 2004 157 169 (Pubitemid 38496237)
10. V. Marillat, C. Sabatier, and V. Failli et al. The Slit receptor Rig-1/Robo3 controls midline crossing by hindbrain precerebellar neurons and axons Neuron 43 2004 69 79 (Pubitemid 38952820)
11. E.C. Engle Human genetic disorders of axon guidance Cold Spring Harb Perspect Biol 2 2010 a001784
12. A.J. Barkovich, R. Hevner, and R. Guerrini Syndromes of bilateral symmetrical polymicrogyria AJNR Am J Neuroradiol 20 1999 1814 1821
13. A.J. Barkovich Current concepts of polymicrogyria Neuroradiology 52 2010 479 487
14. R.J. Leventer, A. Jansen, and D.T. Pilz et al. Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients Brain 133 2010 1415 1427