While the cause of most cases of holoprosencephaly is unknown, approximately half of all cases have been found to be linked to chromosomal factors. These include Patau's syndrome and Edwards' syndrome. Research has shown an increased risk for holoprosencephaly in infants of diabetic mothers, suggesting that improved management of diabetic pregnancies may hold hope for preventing such conditions. No treatment exists for these conditions and infants born with most forms of holoprosencephaly face a poor prognosis. Few who survive achieve significant mental developmental.
Treatment is largely symptomatic.
Back to Top Hydranencephaly Hydranencephaly is a rare and extreme form of porencephaly, in which vascular injuries, infections or trauma after the 12th week of pregnancy result in malformations of the brain. In such cases, the hemispheres of the cerebrum are absent, replaced by sacs filled with cerebrospinal fluid. In most cases, the cerebellum and brainstem are formed normally. But after a few weeks these outwardly normal babies typically become irritable and develop hypertonia, an abnormal increase in muscle tone. Seizures and hydrocephalus usually follow within a few months, and there may be symptoms of visual impairment, lack of growth, deafness, blindness, paralysis and intellectual deficits.