CEREBROTENDINOUS XANTHOMATOSIS
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ALTERNATE NAMES
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CTX; Van Bogaert-Scherer-Epstein Disease; Xanthomatosis Cerebrotendinous; Cerebral
Cholesterosis; Cerebrotendinous Cholesterinosis; Cholestanol Storage Disease; Cholestanolosis;
Sterol 27-hydroxylase Deficiency
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DESCRIPTION
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Cerebrotendinous Xanthomatosis (CTX) is an inherited lipid storage disorder where the body lacks the enzyme to break down
different forms of cholesterol, leading to lipid accumulation in all tissues in the
central nervous system, as well as in the tendons, skin, lungs, and bones. Xanthomas
(fatty yellow nodules) in the tendons begin to form in early adulthood. People with
CTX are also at an increased risk of developing cardiovascular disease.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING
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Diagnostic testing: The diagnosis of CTX is established by:
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Molecular genetic testing for the CYP27A1 gene;
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High cholesterol concentration;
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Normal-to-low plasma cholesterol concentration;
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Decreased chenodeoxycholic acid;
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Increased concentration of bile alcohols and glyconjugates; and
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Increased concentrations of colestanol and apolipoprotein B in cerebrospinal fluid.
Physical findings:
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Xanthomas in the Achilles tendon, patella, elbow, hand, and neck tendons;
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ICD-9: 272.2
ICD-10: E75.5
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PROGRESSION
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Cataracts develop in childhood or adolescence, and xanthoma formation tends to develop
in the second and third decades of life. Neurological impairments involving seizures,
dementia, and involuntary reflexes and movement begin in the third decade of life
and progress until death. The severity of CTX varies widely with the cause of death
usually due to myocardial infarction and progressive mental deterioration.
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TREATMENT
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There is no current cure for CTX. Treatment focuses on the management of disease symptoms.
Cataract extraction is typically required in at least one eye by the age of 50 years.
Seizures, spasticity, and parkinsonism are treated symptomatically.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
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Laboratory studies of CYP27A1 gene activity; and
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Imaging studies such as an MRI or CT scan of the brain showing diffuse atrophy in
the cerebellum, basal ganglia, and cerebrum.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS |
Meets
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11.17 |
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12.02
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111.17
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112.02
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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