Arhinencephaly (holoprosencephaly) associated with external hydrocephaly.
A female infant, weighing 2,263 g had been spontaneously delivered at the 33rd week of gestation. The only noticeable abnormality was a cleft palate, but within the next few days, she developed low temperature, spastic movements in the extremities, and depressed respiration. These abnormalities soon became worse and she died on the 12th day. Clinically, she was not suspected of having malformations of the brain, but on autopsy, an external hydrocephaly (400 ml) and small arhinencephalic brain (75 g) were noted. In the brain, the growth of the diencephalon was exceedingly poor but the growth of the rhombencephalon was relatively favorable. The olfactory bulbi and tracts in the telencephalon were absent. These findings were similar to those seen in cases of arhinencephaly (or holoprosencephaly). In the cerebral ventricles, the lateral ventricles and the IVth ventricle were enlarged, but the IIIrd ventricle could not be identified. Communication could only be found between the lateral apertures of the IVth ventricle and the subarachnoidal spaces.
D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology*; D007231:Infant, Newborn