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GTR Home > Conditions/Phenotypes > Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome

Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome

Synonyms
LEUDEN SYNDROME

Summary

Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) is characterized by global developmental delay apparent in early childhood, followed by episodic neurologic regression or decompensation associated with systemic stress, such as febrile infection. Affected individuals have hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria, and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs, and tremor. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities, poor myelination, thin corpus callosum, and generalized cerebral atrophy with enlarged ventricles. The clinical features of the disorder and the abnormal brain imaging findings are progressive (summary by Mao et al., 2020). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DYT33, EIF2AK1, LEUDEN, PKR, PPP1R83, PRKR, EIF2AK2
    Summary: eukaryotic translation initiation factor 2 alpha kinase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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