| Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. | |
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MedLine Citation:
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PMID: 22451504 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2012-03-26 |
Journal Detail:
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Title: Brain : a journal of neurology Volume: 135 ISSN: 1460-2156 ISO Abbreviation: Brain Publication Date: 2012 May |
Date Detail:
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Created Date: 2012-04-30 Completed Date: 2012-06-25 Revised Date: 2013-05-02 |
Medline Journal Info:
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Nlm Unique ID: 0372537 Medline TA: Brain Country: England |
Other Details:
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Languages: eng Pagination: 1370-86 Citation Subset: AIM; IM |
Affiliation:
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Department of Radiology, Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle WA 98105, USA. ishakg@u.washington.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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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:
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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:
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Brain. 2012 May;135(Pt 5):1346-7
[PMID:
22492564
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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