Lithium citrate as treatment of Canavan disease

MDE Solsona, LL Fernández, EM Boquet… - Clinical …, 2012 - journals.lww.com
Canavan disease is a rare autosomal recessive leukodystrophy characterized by abnormal
accumulation of N-acetyl aspartate (NAA) in brain white matter. Currently, there is no cure for
this disease, and management of patients consists mainly of treating symptoms. We
describe a 3-month-old girl who was hospitalized for poor head control and decreased
muscle tone. A battery of laboratory and genetic (homozygous mutation p. C218X) analysis
revealed the presence of Canavan disease. Lithium citrate was initiated at a dosage of 45 …
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