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Visualisation of treatment response in a case of cerebrotendinous xanthomatosis
  1. Stefan Seidel1,
  2. Gregor Kasprian2,
  3. Daniela Prayer2,
  4. Martin Krssák2,
  5. Thomas Sycha1,
  6. Eduard Auff1
  1. 1Medical University of Vienna, Department of Neurology, Vienna, Austria
  2. 2Department of Radiology, Medical University of Vienna, Vienna, Austria
  1. Correspondence to Dr Stefan Seidel, Medical University of Vienna, Department of Neurology, Währinger Gürtel 18–20, Vienna 1090, Austria; stefan.seidel{at}

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Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease due to mutations in the CYP27A1 gene leading to formation of xanthomatous lesions in various tissues.

De Stefano et al reported consistent evidence of bilateral abnormalities in the dentate nuclei in CTX patients.1 Moreover, a strong correlation between the patients' clinical disability and the putative axonal marker N-acetylaspartate (NAA) suggested that the marker provided by magnetic resonance spectroscopy could be useful in longitudinal studies monitoring treatment response in CTX patients.1

We report the case of a 34-year-old man suffering from CTX and demonstrate metabolic/structural cerebellar changes before and after 6 months of treatment with chenodeoxycholic acid.

Case report

A 34-year-old man was referred to our outpatient clinic complaining about a progressively unsteady gait since the age of 30. Previously, he had been diagnosed as having juvenile bilateral cataracts and presenile osteoporosis. Family history was negative for any neurological or metabolic disorder. Prominent tendon xanthomas were absent.

Neurological examination showed a saccadic slow pursuit, bilateral gaze-evoked nystagmus, tachylalia and mild dysarthria. Neither down- nor upbeat nystagmus was present. Palatal tremor was absent. Finger-to-nose and heel-to-shin tests were dysmetric, predominantly on the right side. Vibration sense was significantly decreased in both lower limbs (1/8, using a 128 Hz tuning fork with an eight-point numeric scale). Gait was spastic ataxic. However, the patient was able to walk longer distances without support. The …

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  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.