Canavan’s disease (CD) is a rare hereditary neurological disorder affecting children. The disease is also called spongy degeneration of the CNS of the van Bogaert-Bertrand type. Similar to Tay-Sachs disease and Niemann-Pick disease, CD is most frequently found in children of Jewish Ashkenazi origin. An autosomal recessive mode of inheritance is evident: the disease appears in children of apparently normal parents, the siblings of patients are also frequently affected, there is an equal sex ratio, and there is high consanguinity in the parents of affected children.
KeywordsWhite Matter Optic Atrophy Amniotic Fluid Cell Free Amino Acid Pool Autosomal Recessive Mode
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