Brain stem calcification on CT scan, suggesting prenatal brain stem ischemia, is reported in an infant with Moebius syndrome examined in the Department of Pediatrics and Neonatal Medicine, State University of Gent, Gent, Belgium. Attempts at oral feeding in the neonatal period resulted in cyanotic attacks and bradycardia. There were repetitive clonic flexion movements in the arms and tonic contractions of intercostal and diaphragmatic muscles leading to respiratory arrest. Anticonvulsant therapy including pyridoxine were without benefit. The face was mask-like, the tongue was small, the gag reflex weak, the voice low pitched, and there was inability to abduct either eye beyond the midline. When asleep, both eyes were incompletely closed. There was generalized hypotonia and areflexia. At six months of age head control with severe titubation was achieved but conjugate eye movements were absent. At 12 months of age she still could not sit independently and she was monitored at home because of an erratic bradycardia. EEG’s were normal. Chromosome test was normal. The right facial nerve could not be stimulated and blink reflexes were absent bilaterally. Brain stem evoked response showed bilateral anomalies. CT scan of the posterior fossa showed pontomedullary calcification in the floor of the fourth ventricle and basal cisterns were large. The case provides in vivo support to a theory of disruption in the vascular territory of the subclavian artery in explanation of the Moebius syndrome. [1]

COMMENT. Congenital nonprogressive bilateral facial palsy and external ophthalmoplegia are the clinical features for the diagnosis of Moebius syndrome [2]. Theories of etiology have included 1) primary brain stem nuclear hypoplasia, 2) secondary brain stem nuclear degeneration, and 3) brain stem atrophy secondary to muscular defect. The postmortem finding of focal brain stem mineral deposits in some patients with Moebius syndrome support prenatal ischemic necrosis as an alternative explanation. [3]

An infant with Moebius syndrome and MRI evidence of calcification in the medulla died recently at our institution and at autopsy was found to have atrophic lesions in the brain stem indicative of an ischemic pathology. (Clark HB. Personal communication). A case of a 13 year old boy with autosomal dominant congenital facial diplegia is reported from the Division of Neurology, Ramos Mejia Hospital, University of Buenos Aires, Argentina. Thirteen members of his family were affected over four generations. Electrophysiologic studies showed blink reflex abnormalities suggesting functional damage to the brain stem. [4]