Synonyms:
a.k.a. cerebro-hepato-renal syndrome
Diagnosis:
A type of Leukodystrophy and peroxisome biogenesis disorders (PBD)
Confirmed by Serum very long chain fatty acids: elevated
Genetics:
PEX3 gene mutations
Clinical features:
- Severe weakness, hypotonia, seizures and developmental delay
- high forehead, underdeveloped eyebrow ridges, deformed earlobes
- Hepatomegaly
- Facial features: high forehead, hypoplastic supraorbital ridges, and midface hypoplasia.
- A type of leukodystrophy
Findings on investigations:
Biochemistry: confirmed by elevated levels of saturated and unsaturated very long chain fatty acids in body fluids
MRI:
- Impaired myelination (white matter disease), periventricular pseudocysts, polymicorgyria, polygyria,
Other labs:
- high iron, high copper, renal failure,