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Leukodystrophy, childhood-onset, remitting(CORLK)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: CORLK
Gene (location): FBP2 (9q22.32)
Monarch Initiative: MONDO:0859246
OMIM®: 619864


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). [from OMIM]

Clinical features

From HPO
Tube feeding
MedGen UID:
Concept ID:
Therapeutic or Preventive Procedure
Feeding problem necessitating food and nutrient delivery via a tube.
Feeding difficulties
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Concept ID:
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
MedGen UID:
Concept ID:
Disease or Syndrome
Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.
Gait disturbance
MedGen UID:
Concept ID:
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Focal-onset seizure
MedGen UID:
Concept ID:
Disease or Syndrome
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
Abnormal cerebral white matter morphology
MedGen UID:
Concept ID:
Pathologic Function
An abnormality of the cerebral white matter.
MedGen UID:
Concept ID:
Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.

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