Table 2.
Differential diagnosis table for Cerebrotendinous Xanthomatosis
| DD | Clinical Features | X–ray | US | MRI | HPE/Serology |
|---|---|---|---|---|---|
| Cerebrotendinous xanthomatosis | chronic diarrhoea, juvenile cataract, tendon xanthomas, progressing into cerebellar ataxia and mental retardation | Soft tissue opacity in the region of the Achilles tendon | Smooth hypoechoic infiltration of the Achilles tendon | Diffuse low intensity infiltration of the Achilles tendon in both T1W & T2W images | Biopsy specimen from Achilles tendon shows degenerated fibrocollagenous tissue |
| Calculus in the gall bladder lumen | T2W hyperintense lesions in the dentate nucleus, substantia nigra, globus pallidus and periventricular white matter | intercepted by adipose cells, foam cells and Touton giant cells. Elevated serum cholestanol | |||
| Xanthoma | Swelling, restricted motion at joints | Soft tissue opacity in the region of the tendon involved | Smooth hypoechoic infiltration of the tendon | Diffuse low intensity infiltration of the tendon in both T1W & T2W images with varying degrees of increased intensity | Predominant adipose and foam cells |
| Myotonic dystrophy type I | Early onset cataract, mental retardation, high- stepping gait, muscle wasting and weakness | Not applicable | Not applicable | Diffuse cerebral and cerebellar T2 hyperintensity with hypoplasia of corpus callosum | Mild myopathic changes and grouping of atrophic fast fibres |
| Marinesco- Sjogren syndrome | Cerebellar ataxia, congenital cataract, mental retardation | Scoliosis; shortening of metacarpals, metatarsals and phalanges; coxa valga; pes planovalgus; and pectus carinatum | Not applicable | T2-hyperintensity in the cerebellar cortex, cerebellar atrophy predominantly involving the vermis, muscle tissue replacement with fat and connective tissue | atrophic fibers, fatty replacement, and rimmed vacuole formation in muscle fibres |
| Sitosterolemia | Tendon xanthomas, spastic paraparesis, primary neurologic signs and cataracts are not present | Not applicable | Not applicable | spinal cord compression by multiple intradural, extramedullary xanthomas which are low intensity on T1W and T2WI | Elevated serum sitosterol and campesterol |