Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Cerebrotendinous xanthomatosis (CTX) is a progressive, inborn error of metabolism affecting multiple systems.
• Characterized by early-onset diarrhea, cataracts, developmental delay, and later tendon xanthomas and neurological dysfunction.
• Caused by biallelic variants in CYP27A1, impairing sterol 27-hydroxylase function and leading to toxic bile acid intermediate accumulation.

Purpose of the Study:

• To report a new patient with Cerebrotendinous xanthomatosis (CTX).
• To describe previously unreported early signs of CTX, including infantile spasms.
• To emphasize the importance of considering CTX in the differential diagnosis of children with similar presentations.

Main Methods:

• Clinical case report of a patient with CTX.
• Review of clinical presentation and diagnostic considerations.
• Discussion of genetic and biochemical diagnostic tools for CTX.

Main Results:

• The patient presented with infantile spasms, developmental delay, and cognitive decline, which are atypical early signs of CTX.
• Genetic and biochemical testing confirmed CTX due to CYP27A1 variants.
• The findings highlight the need for broader diagnostic considerations for CTX.

Conclusions:

• Infantile spasms and developmental delay can be early indicators of CTX, necessitating increased clinical awareness.
• Early diagnosis of CTX is critical for timely intervention with chenodeoxycholic acid therapy.
• Considering CTX in the differential diagnosis of pediatric neurological and developmental disorders can improve patient outcomes.