Familial agenesis of the corpus callosum with hypothermia and apneic spells.
Two siblings, a boy and a girl, with agenesis of the corpus callosum, apneic spells, attacks of apnea, cyanosis and spontaneous hypothermia, are reported about. Both children died after a few months of life. Postmortem examination revealed a severe spongiosis of the white matter in addition to the agenesis of the corpus callosum and septum pellucidum, in both cases.
D061085:Agenesis of Corpus Callosum; D001049:Apnea / Q000150:complications*; D001921:Brain / Q000473:pathology; D003241:Consanguinity; D003490:Cyanosis / Q000150:complications; D005260:Female; D006801:Humans; D007035:Hypothermia / Q000150:complications*; D007223:Infant; D008297:Male; D010375:Pedigree