Clinical features:
Neonates: cataracts, diarrhea, pyramidal and cerebellar signs, learning disability later on
Adults:
- Seizures, dementia, myelopathy (spinal form),
- Enlarged tongue, tendon xanthomas, premature vascular disease, cataracts
Genetics:
Autosomal recessive, CYP27A1 gene on chromosome 2q, sterol 27-hydroxylase deficiency,
Findings on investigations:
Lipid profile: increased cholesterol
CT: white matter hypdensities in cerebrum, cerebellar dentate nucleus hypdensities,
MRI: FLAIR increased signal in white matter in cerebrum, cerebellum
Muscle biopsy:
- Reduced respiratory chain enzymes activity
Raised lactate
Treatment:
Chenodeoxycholic acid