Congenital Cranial Dysinnervation Disorder: An Unusual Phenotype With Multiple Cranial Neuropathies and Novel Neuroimaging Findings

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Title Congenital Cranial Dysinnervation Disorder: An Unusual Phenotype With Multiple Cranial Neuropathies and Novel Neuroimaging Findings
Creator Michael S. Salman; Conor Mulholland; Jens Wrogemann; Samantha E. Marin
Affiliation Section of Pediatric Neurology (MSS, SEM), Children's Hospital; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada; Section of Pediatric Ophthalmology (CM), Children's Hospital; Department of Ophthalmology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada; Section of Pediatric Radiology (JW), Children's Hospital; Department of Radiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada
Abstract Congenital cranial dysinnervation disorders result from a maldevelopment of brainstem nuclei and/or cranial nerves. In some cases, specific genetic abnormalities have been identified. We expand the clinical phenotype of these disorders with the report of a 28-month-old girl who was initially evaluated for seizures and was found to have right sixth nerve palsy, small optic discs with reduced vision in her right eye. Her development was delayed. Brain MRI showed multiple abnormalities involving other cranial nerves, the optic chiasm and brainstem. Her developmental delay and seizure disorder suggest additional cortical involvement.
Subject Child, Preschool; Cranial Nerve Diseases / complications; Cranial Nerve Diseases / congenital; Cranial Nerve Diseases / diagnostic imaging; Cranial Nerves / diagnostic imaging; Developmental Disabilities / diagnostic imaging; Developmental Disabilities / etiology; Female; Humans; Magnetic Resonance Imaging; Neuroimaging; Seizures / diagnostic imaging; Seizures / etiology
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Date 2019-09
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, September 2019, Volume 39, Issue 3
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s66m8x9t
Setname ehsl_novel_jno
ID 1595903
Reference URL https://collections.lib.utah.edu/ark:/87278/s66m8x9t
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