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Gene: EIF2B2

Green List (high evidence)

A chronic and progressive autosomal recessive leukoencephalopathy characterized by neurologic deterioration with cerebellar ataxia, spasticity, and relatively mild mental decline. Severity ranges from onset at birth with death in infancy to mild cases with later and even adult onset. Initial development may be normal. Episodes of rapid deterioration occur following febrile infection or minor head trauma. Death occurs after a variable period usually of a few years to a few decades, usually following an episode of fever and coma. Affected females may have ovarian failure manifest as primary or secondary amenorrhea. Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy are diagnostic and show a diffuse abnormality of the cerebral white matter beginning in the presymptomatic stage, with increasing amounts of the abnormal white matter vanishing and being replaced by cerebrospinal fluid.

Created: 4 Nov 2024, 12:24 a.m. | Last Modified: 4 Nov 2024, 12:24 a.m.

Panel Version: 1.546

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312

Publications

• PMID: 14566705
• 21484434
• 28041799
• 11704758