1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-17-02 10.15844/pedneurbriefs-17-1-2 Congenital Malformations Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant White Matter Maturation in Holoprosencephaly http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 01 2003 01 03 2016 17 1 2 3 Copyright: © 2003 The Author(s) 2003 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. MRI shows abnormal white matter maturation in classical holoprosencephaly

White matter maturation in holoprosencephaly (HPE) was assessed by MRI scans in 47 patients (age 1 day to 16 years, median age 7 months) evaluated at the University of California, San Francisco.

 Holoprosencephaly Patterns of Myelination Sonic Hedgehog

White matter maturation in holoprosencephaly (HPE) was assessed by MRI scans in 47 patients (age 1 day to 16 years, median age 7 months) evaluated at the University of California, San Francisco. White matter maturation was delayed in 25 of 47 patients, and was easier to detect in infants compared to older children (24/32 affected <1 year of age, 1/15 >1 year of age). The classic severe subtypes of HPE were especially involved (2/4 lobar, 20/31 semilobar, 3/6 alobar), whereas 0/6 with MIH had myelin delay. The classic and MIH variants of HPE appear to have different patterns of myelination, reflecting different underlying causes. [1]

COMMENT. Infants with classic holoprosencephaly (HPE) have delayed white matter maturation. HPE results from abnormal development of the floor plate and ventral neural tube, at the level of the prosencephalon, and oligodendrocytes, involved in myelin production, originate in the ventral aspect of the neural tube close to the floor plate. These processes depend on induction by the protein sonic hedgehog (SHH), which is mutated in some forms of familial HPE (Roessler E et al, 1996, cited by Barkovich, 2002). The finding of normal myelination in MIH supports the theory of a normal floor plate in this subtype of HPE, and separate genetic and environmental factors in etiology.

Barkovich AJ Simon EM Glenn OA Clegg NJ Kinsman SL Delgado M MRI shows abnormal white matter maturation in classical holoprosencephaly Neurology 2002 Dec 24 59 12 1968 71 10.1212/01.WNL.0000038354.10891.0E 12499493