IllnessCerebrotendinous Xanthomatosis, CTX; differential diagnosis

NGS +

Cerebrotendinous Xanthomatosis manifests as fat storage disease in childhood with cataracts, in adolescents with tendon xanthomas and in adults with dementia and psychiatric abnormalities as well as progressive neurological dysfunction (pyramidal tract and cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, seizures). CTX diagnosis is established biochemically in blood and urine via cholestanol detection. CTX follows the autosomal recessive inheritance pattern. Together with extensive deletion/duplication analysis, DNA sequencing is used to molecularly clarify virtually all clinically definite cases, confirming the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1409/

• Alias: Sterol 27-hydroxylase deficiency (CYP27A1)
• Alias: Zerebrotendinöse Xanthomatose (CYP27A1)
• Allelic: Gallbladder disease 4 (ABCG8)
• Allelic: Hypobetalipoproteinemia (APOB)
• Allelic: LDL cholesterol level QTL2
• Allelic: Low density lipoprotein cholesterol level QTL 1 (PCSK9)
• Cerebrotendinous xanthomatosis (CYP27A1)
• Hypercholesterolemia, familial, 1 (LDLR)
• Hypercholesterolemia, familial, 2 (APOB)
• Hypercholesterolemia, familial, 3 (PCSK9)
• Myotonic dystrophy 1 (DMPK_CTG)
• Sitosterolemia 1 (ABCG8)
• Sitosterolemia 2 (ABCG5)