1. CEREBROTENDINOUS XANTHOMATOSIS Sheri Harder* Paggie Kim * Miriam Peckham * Teresa LaBarte ŧ Departments of Radiology (Division of Neuroradiology)* and Neurology ŧ Loma Linda University Medical Center, Loma Linda, CA, USA

2. The authors attest that there are no financial disclosures, interests or off label drug / product use.

3. PURPOSE

4. The purpose of this presentation is to show the classic imaging features of cerebrotendinous xanthomatosis, a rare neurodegenerative disease.

5. MATERIALS AND METHODS

6. The patient medical record was reviewed for details regarding presentation and physical findings. The imaging record was reviewed and MRI features were documented.

7. RESULTS

8. History This 40 year old male presents with greater than 20 years history of progressive gait abnormality, chronic seizures and cognitive impairment. He now requires a walker to ambulate. There is a family history with a brother and sister having similar symptoms. EMG/NCS Study reveals non- uniform, mildly slowed motor conduction velocities in several nerve territories without significant associated axon loss. Note is made of interval reduction of conduction velocities between 2012 and 2015 studies. Physical Exam The patient has a slow wide-based gait with bilateral lower extremity muscle atrophy. Physical exam elicits clonus and bilateral upgoing toes with finger-nose and heel-shin ataxia.

9. Sagittal T1 Sagittal T1 weighted image demonstrates cerebellar atrophy with prominent dentate nucleus T1 hyperintensity (arrow).

10. Axial FLAIR Axial FLAIR image demonstrates prominent mineralization of the dentate nuclei (arrowhead) and surrounding gliosis (arrow).

11. Axial SWI Axial SWI demonstrates susceptibility hypointensity related to the dentate nuclei. Anteriorly, the mineralization is curvilinear (arrow) while posteriorly it is more globular (arrow head).

12. CONCLUSIONS

13. A case of cerebrotendinous xanthomatosis is presented, demonstrating classic imaging features including prominent mineralization of the dentate nuclei.

14. Early diagnosis is crucial as treatment with chenodeoxycholic acid is the most effective intervention, preventing further neurological damage and deterioration.

15. References Frederico A, Dotti MT. Cerebrotendinous Xanthomatosis: Clinical Manifestations, Diagnostic Criteria, Pathogenesis, and Therapy. J Child Neurol 2003;18:633-38 Mehta BP, Shmerling RH. Teaching NeuroImage: Cerebrotendinous xanthomatosis. Neurology July 2008;71 Yahalom G, Tsabari R, et al. Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: early versus late diagnosis. Clin Neuropharmacol 2013;36(3):78-83. De Stefano N, Dotti MT, Mortilla M, Federico A. Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain 2001;124:121-31.