[MIM 619 147]

Acronym for LEukoencephalopathy, Progressive, Infantile-onset, with or without Deafness.

Extremely rare: < 50 cases have been described. Autosomal recessive transmission of a mutation of the KARS-1 gene (16q23.1). Progressive neurodegenerative disease with variable symptoms such as early deafness, hypotonia, developmental delay, visual impairment and, later, seizures. The disease usually presents in the first few months of life with hypoacusis/deafness and neurodevelopmental disorders. Imaging shows the progressive appearance of calcifications in the cerebral white matter, cerebellum, brainstem and spinal cord.

Biology: increased lactate levels and signs of mitochondrial dysfunction.

Anesthetic implications: 

polyhandicapped child; caution: management similar to mitochondrial cytopathy (see this term).

References : 

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Updated: May 2025