A lethal association of congenital apnea with brainstem tegmental necrosis.
We present a female with premature birth, polyhydramnios, congenital apnea, cranial nerve palsies, orofacial and limb anomalies. Neuroimaging revealed calcifications along the vental margin of the caudal fourth ventricle. Neuropathologic findings at postmortem examination were consistent with brainstem tegmental necrosis and olivary hypoplasia, a rare lethal entity that should be considered in the differential diagnosis of congenital apnea.
Moya
Martin P
MP
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
Delong
G Robert
GR
Barboriak
Daniel
D
Cummings
Thomas J
TJ
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D001049:Apnea / Q000151:congenital* / Q000473:pathology; D001933:Brain Stem / Q000473:pathology*; D002114:Calcinosis / Q000151:congenital / Q000175:diagnosis / Q000473:pathology; D002543:Cerebral Hemorrhage / Q000175:diagnosis / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D003638:Deafness / Q000151:congenital / Q000175:diagnosis; D003937:Diagnosis, Differential; D004453:Echoencephalography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009336:Necrosis; D009847:Olivary Nucleus / Q000002:abnormalities / Q000473:pathology; D012737:Sex Factors; D013681:Tegmentum Mesencephali / Q000473:pathology*; D014057:Tomography, X-Ray Computed