The clinical manifestations of GA-1 can vary considerably even between siblings, suggesting an important environmental component. Most patients have macrocephaly at birth or develop it shortly thereafter. Most of these patients have no clinical symptoms beyond a large head. One of our patients had a sudden post-natal increase in head circumference that prompted diagnosis at 11 months of age. Brain imaging performed shortly after birth usually shows the appearance of fronto-parietal brain atrophy with widening of the Sylvian fissures and sometimes arachnoid cysts. This reflects abnormal brain growth during intrauterine life and is therefore hypoplasia rather than atrophy. The reduced amount of brain tissue within an enlarged head has been called micrencephalic macrocephaly [Strauss et al., 2003]. Veins can stretch in the enlarged collection of CSF and are subject to rupture with acute subdural hemorrhages, sometimes following minor head trauma. In some cases, these are accompanied to retinal hemorrhages, raising suspicion of child abuse
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