Wednesday, December 28, 2016

Leukodystrophies

Young child, Neurodegenerative dis with macrocephaly: canavan, Alexander, magelencephalic leukoencephalopathy with subcortical cyst.
Other leukoencephalopathy and macrocephaly: Childhood ataxia with central nervous system hypomylination(CACH)_Megalencephaly, L2 ---Glutaric aciduria, GM2 gangliosidosis
specific clinical features:
.Addison's disease in Adrenoleukodystrophy
hypodontia in Pol-III related or 4H leukodystrophy

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