Cerebrotendinöse Xanthomatose
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.
Clinical presentation
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.
Pathology
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.
Serology
On biochemical studies the presence of normal or low cholesterol in association with raised cholestanol levels is characteristic.
Radiographic features
MRI
Imaging demonstrates T2 hyperintensity in deep grey and supratentorial white matter, microcalcifications in the dentate nuclei, and enlargement of Virchow-Robin spaces.
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.
Tendon xanthomas (usually bilateral achilles tendons) are commonly identified.
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.
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Assoziationen und Differentialdiagnosen zu Cerebrotendinöse Xanthomatose: