Question:

Which of the following is not an imaging differential diagnosis for cerebrotendinous xanthomatosis?
1. Sitosterolemia
2. Multiple sclerosis
3. Marinesco-Sjogren syndrome
4. Myotonic dystrophy type I
5. Hyperlipemia type IIa





Answer:

The correct answer for the question "Which of the following is not an imaging differential diagnosis for cerebrotendinous xanthomatosis?" is:

2. Multiple sclerosis



Explanation
Multiple sclerosis is not an imaging differential for CTX. [Sitosterolemia is an inherited sterol storage disease characterized by tendon xanthomas and by a strong predisposition to premature atherosclerosis. Serum concentration of plant sterols (sitosterol and campesterol) is increased. Primary neurologic signs and cataracts are not present. Spastic paraparesis may occur as a result of spinal cord compression by multiple intradural, extramedullaryxanthomas. Hypercholesterolemia and hyperlipemia (especially type IIa), also presents with xanthomas, but the plasma cholestanol level is normal. Clinically, CTX resembles the Marinesco-Sjogren syndrome, an autosomal recessive disorder characterized by the triad of cerebellar ataxia, congenital cataract, and mental retardation. The presence of tendon xanthomas helps differentiate CTX from this condition. Myotonic dystrophy type I comprises the largest group of individuals with early-onset cataract and known neurologic disease followed by CTX.]



From the manuscript:
Cerebrotendinous xanthomatosis - The spectrum of imaging findings
Radiology Case. 2013 Apr; 7(4):1-9


This article belongs to the Neuro section.




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From the manuscript

Cerebrotendinous xanthomatosis - The spectrum of imaging findings

Free full text article: Cerebrotendinous xanthomatosis -  The spectrum of imaging findings

Abstract
Cerebrotendinous xanthomatosis (CTX), also known as Van Bogaert-Scherer-Epstein disease is a rare autosomal recessive genetic disorder of the lipid metabolism. To date, there are less than 300 cases reported worldwide. We present a case of a 30 year old male who presented with mental retardation and swelling of ankles, with the a spectrum of CTX imaging findings. Imaging studies were performed which included plain X-ray, Ultrasound (US) and Magnetic Resonance Imaging(MRI) of both the brain and ankles. These pointed towards the diagnosis of CTX with the entire spectrum of findings which was confirmed with biopsy and laboratory findings. CTX is a potentially treatable condition with replacement therapy, and hence early diagnosis before neurological deterioration is important. This is aided by the imaging findings which are conclusive forte diagnosis of CTX.






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