Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome (LEUDEN)

External Ids:

OMIM® 57 618877 MeSH 43 D056784

MedGen 40 C5394367 CN280926 SNOMED-CT via HPO 69 103606006 127324008 128613002 16046003 165232002 17450006 196753007 204043002 221360009 235675006 246545002 250067008 25136009 271611007 278849000 282145008 313307000 32798002 397790002 398151007 398152000 399317006 418143002 43105007 4945003 52522001 66637005 72042002 8011004 84757009 91175000 more

OMIM®: ⁵⁷ 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). (618877) (Updated 08-Dec-2022)

MalaCards based summary: Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome, is also known as leuden syndrome. An important gene associated with Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome is EIF2AK2 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 2). Affiliated tissues include brain and spinal cord, and related phenotypes are seizure and spasticity

UniProtKB/Swiss-Prot: ⁷³ An autosomal dominant disorder characterized by global developmental delay apparent in early childhood, cognitive impairment, ataxia, poor or absent speech with dysarthria, hypotonia, hypertonia, extrapyramidal signs, tremor, and abnormal involuntary movements. Affected individuals also exhibit neurological regression in the setting of febrile illness or infection. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities with poor myelination.

Clinical features from OMIM®:

618877 (Updated 08-Dec-2022)

Search Clinical Trials, NIH Clinical Center for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome

Search GEO for disease gene expression data for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome.