ABC | Volume 115, Nº1, Suplement, July 2020

Case Report Spontaneous Coronary Artery Dissection in a Patient with Cerebrotendinous Xanthomatosis Maria Júlia Silveira Souto, 1 M arcos Antônio Almeida-Santos, 2,3 Eduardo José Pereira Ferreira, 1,3 Luiz Flávio Galvão Gonçalves, 1,3 Joselina Luzia Menezes Oliveira, 1, 3 A ntônio Carlos Sobral Sousa 1, 3 Universidade Federal de Sergipe, 1 São Cristovão, SE - Brazil Programa de Pós-Graduação em Saúde e Meio Ambiente, Universidade Tiradentes, 2 Aracaju, SE - Brazil Centro de Educação e Pesquisa da Fundação São Lucas, 3 Aracaju, SE – Brazil Introduction Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease characterized by the formation of xanthomatous lesions in many tissues, particularly the brain and tendons. 1 The disorder is a consequence of the reduced production of bile acids, predominantly chenodeoxycholic acid (CDCA), and an increased formation of cholestanol. 2 Common clinical manifestations include infant-onset diarrhea and juvenile-onset bilateral cataract, usually followed by tendon xanthomas and progressive neurological dysfunction. 3 The final diagnosis is based on biochemical abnormalities, including elevated plasma cholestanol level and increased levels of bile alcohol in urine associated with a diminished biliary concentration of CDCA. 4 The treatment is based on oral supplementation of CDCA, which, if initiated early, can prevent major clinical problems, as it produces a reduction in cholestanol synthesis and plasma levels. 3 Cardiovascular impairment in patients with CTX is mostly associated with premature atherosclerosis. 4 Blood lipid analysis in patients with CTX revealed dramatically high levels of 27-hydroxycholesterol and low levels of high- density lipoprotein cholesterol (HDL), which place these patients at a high risk of cardiovascular disease. 5 Spontaneous coronary artery dissection (SCAD) is defined as a non-traumatic separation of the coronary arterial wall, creating a false lumen, which leads to blood flow reduction. 6 Although there are other systemic conditions that make the coronary vessel wall vulnerable to this condition, in patients with atherosclerotic coronary artery disease, the rupture of a thin-cap fibroatheroma might lead to SCAD. 7 We describe a case report of a patient diagnosed with CTX who showed cardiac impairment due to SCAD. Case report In 2013, a female patient, 22 years old, reported a history of xanthomas in the Achilles tendon and complex partial epileptic crisis for the last 10 years. She developed progressive difficulty in learning and walking skills. Associated to this clinical presentation, she reported a history of bilateral surgery for cataract when she was 14 years old and steatorrhea. On physical examination, xanthomas were observed mostly on the region of the Achilles tendon, bilaterally, but also on the right elbow and knee (Figure 1). The neurological exam showed mild dysmetria and dysdiadochokinesia, difficulty performing the straight line walking test, and bilateral and symmetric patellar hyperreflexia. There was no abnormality on strength or sensitivity exams. The magnetic resonance imaging of the brain showed a focal area of 1.4 cm, with hypersignal in T2-weighted and hyposignal in T1-weighted sequences, with no contrast enhancement. The transthoracic echodopplercardiogram found a moderate left ventricular dilatation and regional dysfunction, resulting in a moderate impairment in its systolic function, and a mild mitral regurgitation. The abdominal ultrasound showed cholelithiasis. The patient, therefore, had clinical and radiological findings compatible with CTX. The diagnosis was confirmed by an elevated serum cholestanol level of 31.79 mcg/mL. She started the treatment with CDCA in the same year. In 2017, she was submitted to a new cardiovascular examination. A cardiac magnetic resonance imaging was performed and showed a dilated left ventricle, associated with mild left ventricular dysfunction (left ventricular ejection fraction = 47%), as a consequence of akinesia of the inferior medium-basal wall and dyskinesia in the anterior and anterior- septal walls of the left ventricle. These regions showed perfusion impairment in the gadolinium-based dynamic evaluation and the presence of transmural late gadolinium enhancement (Figure 2). The coronary computed tomographic angiography detected severe parietal irregularity in the proximal third of the anterior descending coronary artery (LAD) with luminal reduction of 50%, which suggested the presence of a noncalcified plaque or dissection of the artery (Figure 3). The latter was confirmed by coronary angiography and intracoronary ultrasound, which showed a dissection in the medial and proximal thirds of the LAD, with no impairment of the distal flow (Figure 4). At the time of diagnosis, her lipid panel was: total cholesterol 170 mg/dL; high-density lipoprotein cholesterol Mailing Address: Maria Julia Silveira Souto • Universidade Federal de Sergipe – Avenida Marechal Rondon, s/n. Postal Code 49100-000, São Cristovão, SE – Brazil E-mail: souto.mjulia@gmail.com Manuscript received July 09, 2019, revised manuscript October 05, 2019, accepted September 13, 2019 Keywords Xanthomatosis Cerebrotendinous; Cholesterol; Cholestanol; Chenodeoxycholic Acid/adverse effects; Diagnosis, Imaging; Child, Adolescent. DOI: https://doi.org/10.36660/abc.20190456 18