Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness (LEPID)

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OMIM® 57 619147

OMIM® : ⁵⁷ Infantile-onset progressive leukoencephalopathy with or without deafness (LEPID) is an autosomal recessive complex neurodegenerative disorder with onset of symptoms in infancy or early childhood. Most patients present with sensorineural deafness or hypoacousia and global developmental delay. Affected individuals show episodic regression with progressive motor deterioration resulting in spastic tetraplegia and loss of ambulation, as well as impaired intellectual development with poor or absent speech. Additional more variable features may include poor overall growth with microcephaly, seizures, visual loss, microcytic anemia, and hepatic enlargement or abnormal liver enzymes. Brain imaging shows deep white matter abnormalities consistent with a progressive leukoencephalopathy. The brain and spinal cord are usually both involved; calcifications of these regions are often observed. Laboratory studies show increased serum lactate and deficiencies of mitochondrial respiratory chain complexes, consistent with global mitochondrial dysfunction. Early death often occurs (summary by Itoh et al., 2019). (619147) (Updated 05-Mar-2021)

MalaCards based summary : Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness, also known as lepid, is related to hereditary mixed polyposis syndrome and eye disease. An important gene associated with Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness is KARS1 (Lysyl-TRNA Synthetase 1). Affiliated tissues include spinal cord, brain and liver.

Clinical features from OMIM®:

619147 (Updated 05-Mar-2021)

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