Medullary nuclear dysplasia (Möbius syndrome) in an infant with recurrent apnea and isoelectric EEG.
From birth, an infant girl had repeated episodes of loss of consciousness, apnea and bradycardia, aphonia, and severe pharyngeal-esophageal discoordination. These functional deficits correlated with a gross and microscopic malformation of the medulla oblongata, which is characterized by profound deficits of motor and sensory nuclei and of the reticular formation. We have classified this as an example of Möbius syndrome. No etiology was suggested from the history. Histopathologic findings are compatible with an early massive insult to developing structures in the tegmentum of the medulla oblongata.
D001044:Aphonia / Q000151:congenital*; D001049:Apnea / Q000151:congenital*; D001919:Bradycardia / Q000151:congenital; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008526:Medulla Oblongata / Q000002:abnormalities* / Q000473:pathology; D012154:Reticular Formation / Q000473:pathology; D013577:Syndrome