MEGDEL syndrome
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(3-methylglutaconic aciduria-deafness-encephalopathy Leigh-like syndrome, 3-methylglutaconic aciduria type 6).
Acronym for: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E) and Leigh-like disease (L)
Prevalence: < 1 / 1 000 000. Recessive autosomal transmission of a mutation of the SERAC1 gene (6q25.3). Currently considered as a disorder of the biosynthesis complex lipids leading to secondary mitochondrial dysfunction.
Clinical presentation:
- neonatal period: hepatic dysfunction and hypoglycemia (40%); hypotonia, growth retardation
- infant: loss of acquisitions and appearance of spasticity with oropharyngeal dystonia and dyskinesia, variable intellectual deficit
- sometimes: epilepsy (35%), sensorineural deafness (79 %), absent speech (58%), blurred vision (42%), optic atrophy (25%).
- and: frequent respiratory infections (42%), scoliosis (39%), eating disorders requiring a feeding gastrostomy (79%)
- more rarely: renal tubular dysfunction (12%) cardiac anomalies (7%).
- biology: high level of blood lactates and 3-methylglutaconic aciduria
- MRI: lesions of the basal nodes similar to Leigh syndrome.
Anesthetic implications:
see mitochondrial cytopathies
References:
Updated: February 2018