A. Symptoms
- Tendon xanthoma
- Progressive neurological dysfunctions* or mental retardation
- Juvenile cataract
- Juvenile coronary artery disease
- Chronic unexplained diarrhea
- Juvenile osteoporosis
- Prolonged neonatal cholestasis
*Representative progressive neurological dysfunctions include cognitive dysfunction, cerebellar symptoms, pyramidal symptoms, extrapyramidal symptoms, seizure, peripheral neuropathy, and sensory disturbance attributed to spinal cord.
B. Biochemical finding
Elevated serum cholestanol level
C. Genetic testing
Pathogenic mutation in the CYP27A1 gene (homozygosity or compound heterozygosity)
D. Differential diagnosis
Increased serum cholestanol level due to following diseases should be excluded
- Familial hypercholesterolemia
- Sitosterolemia
- Obstructive biliary tract diseases
- Hypothyroidism
＜Diagnostic category＞
- Definite:
- At least one of symptom in A and B + C + D
- Probable:
- At least one of symptom in A and B + D
- Possible:
- At least one of symptom in A and B