Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts
Sapna Tibrewal1, P Barton Duell2, Andrea E DeBarber3
1Department of Ophthalmology, Casey Eye institute, Oregon Health and Science University, Portland.
Insights
Bilateral juvenile cataracts can signal cerebrotendinous xanthomatosis (CTX), a rare lipid disorder. Early diagnosis and treatment with chenodeoxycholic acid can prevent severe neurological damage in children with CTX.
Area of Science:
- Biochemistry
- Genetics
- Ophthalmology
Background:
- Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease.
- Clinical manifestations include progressive neurological decline and early death if untreated.
- Diagnosis and treatment are often delayed until adulthood, despite early childhood symptom onset.
Observation:
- Bilateral juvenile cataracts are a frequent early sign of CTX.
- Ophthalmologists have a key opportunity for early CTX diagnosis.
- This report details a pediatric case where cataracts led to CTX diagnosis.
Findings:
- The study describes the specific morphology of juvenile cataracts in CTX.
- It evaluates the impact of systemic chenodeoxycholic acid treatment on cataract progression.
Implications:
- Early identification of CTX through ophthalmological findings is crucial.
- Prompt treatment can mitigate severe neurological consequences.
- This case highlights the importance of considering CTX in children with unexplained cataracts.
Abstract:
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease characterized by a broad spectrum of clinical manifestations, including bilateral juvenile cataracts. Untreated CTX leads to progressive permanent neurologic decline and early death. Although symptoms begin in early childhood, diagnosis and replacement therapy with chenodeoxycholic acid is often delayed until adulthood. Frequently bilateral juvenile cataracts present in early childhood which provides ophthalmologists an opportunity to aid in early diagnosis and initiate treatment. We report the case of a child presenting with juvenile bilateral cataracts leading to the diagnosis of CTX. The morphology of cataracts and the effect of systemic treatment on its progression are described.
