We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Echoencephalography of Möbius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications.
- Authors
Rawhani, Ramez; Sharma, Kamal; Maertens, Paul
- Abstract
Background and Purpose: Möbius sequence (MBS) previously known as Möbius syndrome is a rare nonprogressive developmental defect of the rhombencephalon leading to congenital abducens (VIth) and facial (VIIth) nerve palsy. Echoencephalography is the first, safe, noninvasive, and cost‐effective imaging modality available at bedside. No study on the use of echoencephalography in neonates for the diagnosis of MBS has been previously reported. Methods: In this single tertiary center study, more than 18,000 neonates underwent echoencephalographic imaging over the span of two decades. Imaging was performed through the anterior, posterior, and lambdoid fontanelles. All neonates found to have calcifications of brainstem tegmental nuclei underwent additional imaging studies. Each neonate with MBS was carefully examined by the same investigator. Results: Five neonates were shown to have punctate, bilateral, symmetrical tegmental pontine calcifications through all three acoustic windows. These calcifications extended caudally in most patients, and rostrally in 2 patients. Brainstem hypoplasia was best seen through the posterior fontanelle. Three out of five infants were noted to have brainstem hypoplasia with straightening of the floor of the fourth ventricle. In two children, facial collicular bulges and hypoglossal eminences were present. All five infants fulfilled clinical diagnostic criteria of MBS. In addition, a wide array of cerebral defects is identified. Echoencephalographic findings were confirmed by other imaging modalities. Conclusion: Knowledge of echoencephalographic features of MBS should improve its early recognition. A detailed description of the various imaging phenotypes of MBS is necessary to characterize the etiology of this heterogeneous congenital cranial dysinnervation disorder.
- Subjects
ULTRASONIC encephalography; BRAIN stem; CALCIFICATION; ACOUSTICAL materials; RHOMBENCEPHALON; HYPOGLOSSAL nerve
- Publication
Journal of Neuroimaging, 2023, Vol 33, Issue 1, p35
- ISSN
1051-2284
- Publication type
Article
- DOI
10.1111/jon.13067