Document Detail


Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
MedLine Citation:
PMID:  22451504     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Rhombencephalosynapsis is a midline brain malformation characterized by missing cerebellar vermis with apparent fusion of the cerebellar hemispheres. Rhombencephalosynapsis can be seen in isolation or together with other central nervous system and extra-central nervous system malformations. Gómez-López-Hernández syndrome combines rhombencephalosynapsis with parietal/temporal alopecia and sometimes trigeminal anaesthesia, towering skull shape and dysmorphic features. Rhombencephalosynapsis can also be seen in patients with features of vertebral anomalies, anal atresia, cardiovascular anomalies, trachea-oesophageal fistula, renal anomalies, limb defects (VACTERL) association. Based on a comprehensive evaluation of neuroimaging findings in 42 patients with rhombencephalosynapsis, we propose a spectrum of severity, ranging from mild (the partial absence of nodulus, anterior and posterior vermis), to moderate (the absence of posterior vermis with some anterior vermis and nodulus present), to severe (the absence of posterior and anterior vermis with some nodulus present), to complete (the absence of the entire vermis including nodulus). We demonstrate that the severity of rhombencephalosynapsis correlates with fusion of the tonsils, as well as midbrain abnormalities including aqueductal stenosis and midline fusion of the tectum. Rhombencephalosynapsis is also associated with multiple forebrain abnormalities including absent olfactory bulbs, dysgenesis of the corpus callosum, absent septum pellucidum and, in rare patients, atypical forms of holoprosencephaly. The frequent association between rhombencephalosynapsis and aqueductal stenosis prompted us to evaluate brain magnetic resonance images in other patients with aqueductal stenosis at our institution, and remarkably, we identified rhombencephalosynapsis in 9%. Strikingly, subjects with more severe rhombencephalosynapsis have more severely abnormal neurodevelopmental outcome, as do subjects with holoprosencephaly and patients with VACTERL features. In summary, our data provide improved diagnostic and prognostic information, and support disruption of dorsal-ventral patterning as a mechanism underlying rhombencephalosynapsis.
Authors:
Gisele E Ishak; Jennifer C Dempsey; Dennis W W Shaw; Hannah Tully; Margaret P Adam; Pedro A Sanchez-Lara; Ian Glass; Tessa C Rue; Kathleen J Millen; William B Dobyns; Dan Doherty
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-03-26
Journal Detail:
Title:  Brain : a journal of neurology     Volume:  135     ISSN:  1460-2156     ISO Abbreviation:  Brain     Publication Date:  2012 May 
Date Detail:
Created Date:  2012-04-30     Completed Date:  2012-06-25     Revised Date:  2013-06-26    
Medline Journal Info:
Nlm Unique ID:  0372537     Medline TA:  Brain     Country:  England    
Other Details:
Languages:  eng     Pagination:  1370-86     Citation Subset:  AIM; IM    
Affiliation:
Department of Radiology, Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle WA 98105, USA. ishakg@u.washington.edu
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple*
Adolescent
Adult
Alopecia / complications*
Cerebellum / abnormalities,  pathology
Child
Child, Preschool
Craniofacial Abnormalities / complications*
Ectopia Cordis / etiology
Female
Growth Disorders / complications*
Humans
Hydrocephalus / complications*
Infant
Infant, Newborn
Male
Mesencephalon / pathology*
Neurocutaneous Syndromes / complications*
Neuroimaging
Prosencephalon / pathology*
Retrospective Studies
Rhombencephalon / abnormalities*,  pathology
Severity of Illness Index
Young Adult
Grant Support
ID/Acronym/Agency:
5T32NS051171/NS/NINDS NIH HHS; K12-HD05954/HD/NICHD NIH HHS; KL2 TR000421/TR/NCATS NIH HHS; KL2-RR025015/RR/NCRR NIH HHS; R01 NS072441/NS/NINDS NIH HHS; R01-NS050375/NS/NINDS NIH HHS; UL1 TR000423/TR/NCATS NIH HHS
Comments/Corrections
Comment In:
Brain. 2012 May;135(Pt 5):1346-7   [PMID:  22492564 ]

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