Cerebrotendinous xanthomatosis is an autosomal recessive lipid storage disorder caused by defects in sterol-27-hydroxylase enzyme in bile acid synthesis. This leads to early cataract formation, atherosclerosis, hypercholesterolemia, and tendinous xanthomas.
Clinically cerebrotendinous xanthomatosis may resemble the Marinesco-Sjogren syndrome, an autosomal recessive disorder characterized by the triad of cerebellar ataxia, congenital cataract, and intellectual disability. The presence of tendon xanthomas helps differentiate xanthomatosis from this condition.
It is an autosomal recessive lipid storage disorder caused by defects in sterol-27-hydroxylase enzyme in bile acid synthesis, which results in β-cholestanol accumulation in various tissues.
On biochemical studies the presence of normal or low cholesterol in association with raised cholestanol levels is characteristic.
Cerebellar white matter hyperintensities often symmetric are also known. Cerebral and cerebellar atrophy is present, with perivascular macrophage infiltration on histology. The posterior and lateral spinal columns are preferentially affected.
The diagnosis is mainly based on typical clinical and imaging features.
Treatment and prognosis
Cerebrotendinous xanthomatosis is a treatable condition. Medical therapy with chenodeoxycholic acid and HMG-CoA reductase inhibitors must be started in these patients.