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.

Background: Coronary artery disease (CAD) is a major cause of morbidity and mortality in India. Stress Cardiac Magnetic Resonance (CMR) using vasodilator agent is well established in assessing the functional significance of CAD. Adenosine is the preferred agent, but can have severe side effects including dyspnoea, chest pain, atrioventricular block or bronchospasm. The stress CMR examination is not routinely performed in many of the clinical imaging departments in India. Objective: The aim of this study was to establish safety of adenosine as a pharmacological stressor agent for CMR in a tertiary care radiology department in India. Methods: A review of all patients undergoing stress CMR in our institution from May 2018 to May 2019 was made. Records were reviewed to collect response parameters and documented adverse reactions. Results: A total of 1057 patients underwent stress CMR during this period. No death, myocardial infarction or atrio-ventricular block related complications were seen. Transient hypotension was seen in 20 patients (1.8') with spontaneous recovery after stopping infusion. Chest pain and breathlessness severe enough to discontinue the scan were seen in 6 (0.5') and 10 (0.9') patients, respectively. All patients with breathlessness recovered on low flow oxygen therapy with three requiring bronchodilator. Out of six patients with chest pain, three had immediate relief with sublingual nitroglycerin, and three required hospital admission for unstable angina. Of the latter three, 1 underwent revascularization on the same day and other two later in the week. Conclusion: Stress CMR using adenosine in appropriately selected patients is a highly safe procedure with significant side effects seen in less than 1’ of patients. Therefore, it is safe to perform stress CMR studies in a fully equipped and well-trained radiology department in India.

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