Syntelencephaly in an infant of a diabetic mother

Here we report on an infant of a diabetic mother (IDM) with midline interhemispheric “fusion” (MIF), or syntelencephaly. This is a rare anomaly characterized by segmental failure of cleavage of the cerebral hemispheres and other brain structures in the posterior frontal and parietal regions, with a...

Full description

Saved in:

Bibliographic Details
Published in:	American journal of medical genetics Vol. 66; no. 4; pp. 433 - 437
Main Authors:	Robin, Nathaniel H., Ko, Lara M., Heeger, Shauna, Muise, Kevin L., Judge, Nancy, Bangert, Barbara A.
Format:	Journal Article
Language:	English
Published:	New York Wiley Subscription Services, Inc., A Wiley Company 30-12-1996 Wiley-Liss
Subjects:	Adult Biological and medical sciences Diabetes Mellitus, Type 1 Female holoprosencephaly Holoprosencephaly - diagnosis Humans infant of a diabetic mother Infant, Newborn Magnetic Resonance Imaging Male Medical sciences middle interhemispheric fusion midline brain malformation Neurology Pregnancy Pregnancy in Diabetics Prenatal Diagnosis syntelencephaly Telencephalon - abnormalities Tumors of the nervous system. Phacomatoses Endocrinopathy Human Nervous system diseases Syntelencephalie Malformation Pathogenesis Diabetes mellitus Complication Infant Maternal diseases Cerebral disorder
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	Here we report on an infant of a diabetic mother (IDM) with midline interhemispheric “fusion” (MIF), or syntelencephaly. This is a rare anomaly characterized by segmental failure of cleavage of the cerebral hemispheres and other brain structures in the posterior frontal and parietal regions, with a normal interhemispheric fissure anterior and posterior to the “fused” region. While there is obvious overlap with holoprosencephaly (HPE), this condition differs from HPE in that the midline “fusion” in MIF is complete but segmental, while the structural brain anomalies seen in the HPE spectrum progress smoothly in severity in a posterior to anterior “fusion.” However, while it is apparent that there are key distinctions between MIF and HPE, in all likelihood they arise from a similar pathogenetic mechanism. We therefore suggest that MIF is a distinct variant of the HPE spectrum of midline brain anomalies. Given the known increased incidence of HPE in IDMs, MIF is likely a maternal diabetes‐associated malformation. © 1996 Wiley‐Liss, Inc.
Bibliography:	ark:/67375/WNG-8HXQLBJN-4 ArticleID:AJMG9 istex:70B14C29577188ABCEB5070C3EEA187914FE338B ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0148-7299 1096-8628
DOI:	10.1002/(SICI)1096-8628(19961230)66:4<433::AID-AJMG9>3.0.CO;2-L