Leukodystrophy, Childhood-Onset, Remitting (CORLK)

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OMIM®: ⁵⁷ Childhood-onset remitting leukodystrophy (CORLK) is a very rare autosomal dominant disorder characterized in some patients by onset of a metabolic crisis at the end of the first year of life that leads to widespread demyelination and leukodystrophy on brain imaging and a dramatic loss of developmental abilities. Affected children recover over the following several months, regaining normal development accompanied by remyelination. Not all patients have documented acute episodes of metabolic demyelination in infancy, but individuals with the FBP2 mutation show persistent white matter abnormalities on brain imaging that resemble the abnormalities observed in infants with the acute crisis. Other neurologic disturbances that may or may not be related to the FBP2 mutation have been observed, including psychiatric manifestations, seizures, and mild learning difficulties (Gizak et al., 2021). (619864) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Childhood-Onset, Remitting, is also known as corlk. An important gene associated with Leukodystrophy, Childhood-Onset, Remitting is FBP2 (Fructose-Bisphosphatase 2). Affiliated tissues include brain, and related phenotypes are gait disturbance and irritability

UniProtKB/Swiss-Prot: ⁷³ An autosomal dominant disorder characterized by loss of developmental abilities, demyelination and leukodystrophy on brain imaging, triggered by fever or infection in the first year of life. Abnormalities almost completely resolve over a period of 1 to 2 years, and affected children regain normal development accompanied by remyelination.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Childhood-Onset, Remitting