The clinical and imaging features of cerebrotendinous xanthomatosis

Abstract

Rationale: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid deposition disorder characterized by systemic signs and neurological dysfunction. The radiological features of CTX are infrequently summarized in the literature. Patient concerns: We described a 40-year-old male patient who repeatedly engaged in wrestling matches and presented with progressive difficulty in walking and reduced balance with egg-sized, hard, smooth, and painless masses in both ankles. Diagnosis: Neuroimaging examination showed abnormalities both supra- and infratentorially. Bilateral ankle joint magnetic resonance imaging showed bilateral xanthomata of the Achilles tendon. The diagnosis was confirmed by the detection of a sterol 27-hydroxylase gene mutation. Interventions: The patient was treated with chenodeoxycholic acid (250 mg 3 times per day). Outcomes: To date, the patient's bilateral xanthomas of the Achilles tendon have begun to diminish, and his neurological impairment has not deteriorated further but has not yet improved. Lessons: We report a rare case of CTX and summarize the clinical and imaging features of this disease. Our findings suggest that the abnormal signals in the dentate nucleus or a long spinal cord lesion involving the central and posterior cord, combined with tendon xanthoma, are important clues for the diagnosis of CTX.

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

“…202 While some studies describe the incidence of chronic diarrhea in 76% of cases, other reviews report a 20% (5/25). 32,202 However after checking the ethnicity of the cohort, one can see that 12/25 of patients were Asian. That is important in light of reports comparing the incidence of chronic diarrhea in Chinese and Caucasian populations with results of 3.8% and 92%, respectably.…”

“…57,116 Probably the above symptoms are related to several independent processes. The most obvious one is the chronic global neurodegeneration of damaged nerve cells and subsequent brain atrophy, 32,44 which is a characteristic trait of dementia patients. 203 Brain atrophy measurement is also correlated with cognitive impairment, depressive disorder, euphoria, and disinhibition in multiple sclerosis patients.…”

“…Initially, the hyperintense T2/FLAIR areas of abnormal lipid storage may present as hypointense with subsequent axonal degeneration and vacuolation. 28,32 These hypointense cerebellar changes were described as a marker of poor prognosis, with studies finding such patients to worsen despite CDCA treatment. 221 Histopathological examinations confirm that the most affected are dentate nuclei with foamy histiocytes, cholesterol deposits, and calcifications present.…”

Xantomatose cerebrotendínea: uma doença rara e multissistêmica ainda pouco conhecida. Quando devemos suspeitar?

“…Xantomatose cerebrotendínea (XCT) é doença congênita autossômica recessiva envolvendo o metabolismo do ácido biliar devido à mutação do gene da enzima esterol 27-hidroxilase (CYP27A1) 1,2 . A deficiência do CYP27A1 leva à redução da produção de ácido quenodesoxicólico e ao acúmulo de colestanol e colesterol em diversos tecidos, especialmente no tecido nervoso, ocular e tendíneo 3,4,5 . Não existe consenso nos dados sobre a prevalência de XCT, sendo a prevalência estimada de <5/100,000 em todo o mundo 6 .…”

“…Pacientes com XCT apresentam ampla variedade de sintomas neurológicos e não neurológicos que podem ser expressos na infância, juventude ou na fase adulta 7 . Os sintomas neurológicos são as manifestações clínicas mais comuns da doença 3 , incluindo alterações no Sistema Nervoso Central (SNC) e Sistema Nervoso Periférico (SNP). Além das manifestações neurológicas, XTC pode cursar com envolvimento sistêmico, sendo as principais apresentações não neurológicas xantoma tendinoso, catarata de início na infância e diarreia crônica de início na infância 2,3 .…”