Synonyms:
Leigh’s disease a.k.a. Subacute necrotizing encephalomyelopathy
Clinical features:
3 months- 2 years of age, poor suck, loss of head control, seizures, cardiac problems
Genetics:
Mutations in the mitochondrial DNA or deficiencies of pyruvate dehydrogenase
Findings on investigations:
MRI: symmetric hyperintensity in periaqueductal area, midbrain tectum, caudate, putamen, globus pallidus, substantia nigra. Spares mammillary bodies and red nucleus,
Labs: lactic acidosis
Pathology:
Involves brain-stem primarily but may involve any CNS area
Necrosis without glial or small cell reaction,
Treatment:
Vitamin B1
If deficient in pyruvate dehydrogenase: High fat, low carbohydrate diet,