Canavan's syndrome - what is it?
Can you tell me something about Canavan’s syndrome?
Canavan’s syndrome is known by a number of names, including Canavan’s disease, Canavan’s sclerosis and Canavan-van Bogaert-Bertrand syndrome. It is an extremely rare inherited condition that results in progressive degeneration in the white matter of the central nervous system. It belongs to a group of genetic disorders known as the leukodystrophies. The term leukodystrophy is of Greek origin, “leuko” meaning white and “dystrophy” meaning abnormal development. The disease process is characterised by spongy degeneration of the white matter in the brain, which means that the white matter is replaced by fluid filled spaces giving a sponge-like appearance to the brain. The syndrome has been mainly observed in people of Jewish origin but has also been reported sporadically in other races. It usually develops in infancy between the ages of 3 to 9 months and generally has a poor prognosis. Most children do not survive beyond 18 months after initial diagnosis. The clinical signs of the syndrome include changes in muscle tone, which usually affects the neck, which in turn gives rise to drooping of the head and neck. Other signs include macrocephaly (enlargement of the head), retardation of motor function, optic atrophy and exaggerated reflexes. Affected children also suffer from mental retardation. The syndrome can affect both sexes. There is no cure and treatment is geared toward symptom control and supportive care.