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Cerebrotendinous xanthomatosis.

Mahesh Kamate¹, Vivek Chetal, Virupaxi Hattiholi

¹Department of Pediatrics, KLE University's JN Medical College, Belgaum, India. drmaheshkamate@gmail.com

Indian Journal of Pediatrics

|May 11, 2010

Summary

Two Indian siblings with cerebrotendinous xanthomatosis (CT X) experienced rapid cognitive and neurological decline, unusual for this rare genetic disorder. Early diagnosis and intervention are crucial for managing CTX symptoms like cataracts and tendon xanthomata.

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Area of Science:

Neurology
Genetics
Metabolic Disorders

Background:

Cerebrotendinous xanthomatosis (CT X) is a rare autosomal recessive disorder.
It results from mutations in the CYP27B1 gene, affecting bile acid synthesis.
CT X typically presents with xanthomas, cataracts, and neurological dysfunction.

Observation:

Two adolescent Indian siblings presented with cognitive impairment and progressive neurological deterioration.
Both siblings exhibited juvenile cataracts, chronic diarrhea, and bilateral Achilles tendon xanthomata.
Unusually rapid disease progression was noted in these cases.

Findings:

Magnetic resonance imaging (MRI) revealed characteristic signal alterations in the cerebellum, brainstem, and posterior cerebral white matter.
The clinical presentation and imaging findings are consistent with cerebrotendinous xanthomatosis.
The rapid progression highlights potential variations in CT X phenotype.

Implications:

This case report emphasizes the importance of recognizing atypical presentations of CT X.
Early diagnosis and management may alter the rapid neurological decline observed.
Further research into genotype-phenotype correlations in CT X is warranted.