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Table of Contents    
Year : 2021  |  Volume : 69  |  Issue : 3  |  Page : 775-776

Rare case of Early Cerebrotendinous Xanthomatosis in an Adolescent Male

1 Department of Neurology, Command Hospital, Lucknow, Uttar Pradesh, India
2 Department of Radiodiagnosis and Imaging, Command Hospital, Lucknow, Uttar Pradesh, India
3 Department of Endocrinology, Command Hospital, Lucknow, Uttar Pradesh, India

Date of Submission19-Dec-2017
Date of Decision14-Mar-2018
Date of Acceptance11-Jan-2020
Date of Web Publication24-Jun-2021

Correspondence Address:
Dr. Anirban Gupta
Department of Neurology, Command Hospital (CC), Lucknow - 226 002, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.319201

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How to cite this article:
Gupta A, Rao A, Menon AS, Shukla Y. Rare case of Early Cerebrotendinous Xanthomatosis in an Adolescent Male. Neurol India 2021;69:775-6

How to cite this URL:
Gupta A, Rao A, Menon AS, Shukla Y. Rare case of Early Cerebrotendinous Xanthomatosis in an Adolescent Male. Neurol India [serial online] 2021 [cited 2021 Jul 28];69:775-6. Available from:

Cerebrotendinous xanthomatosis (CTX) is a very rare disorder especially in the Indian subcontinent with only 300 cases reported worldwide.[1] The disease classically presents with bilateral juvenile cataracts, varying degrees of mental retardation, bilaterally symmetrical swelling of Achilles tendons with cerebellar ataxia. Seizures are encountered in 40%-50% cases and can be the presenting problem in some cases.[2] Imaging findings consist of diffuse or focal lesions in the cerebral and cerebellar hemispheres, centrum semiovale, corona radiata, and globus pallidum. MR abnormalities in the dentate nuclei are the earliest imaging findings and as the disease progresses, there is involvement of the pyramidal tracts, inferior olive and the outgoing fiber tracts of these structures.[3]

Clinical presentation

An 18-year-old male was brought to the neurology OPD with complaints of generalized seizures and slowly progressive deterioration of scholastic performance for the past five years with gait ataxia for the last one year with h/o bilateral juvenile cataract operated three years back. There were bilaterally symmetrical soft tissue swellings over both heels. A clinical diagnosis of CTX was made.

Imaging findings

Radiographs of bilateral feet revealed symmetrical appearing soft tissue swelling at the posterior aspect of the feet proximal to the calcaneum bones [Figure 1]. 1.5 T MRI of bilateral ankle joints showed fusiform homogenous hypointensity on both T1 and T2 [Figure 2]. MRI brain revealed bilaterally symmetrical mildly hyperintense T2/FLAIR lesions in the periventricular white matter of parieto-occipital lobes [Figure 3] without diffusion restriction. Scrutiny of the dentate nuclei was done which revealed minimal hypointensity in bilateral dentate nuclei [Figure 4]. Fine needle aspiration cytology of the tendon swellings was done, which showed multiple foamy macrophages with multinucleated giant cells suggestive of xanthomas; hence, a definitive diagnosis of CTX was made [Figure 5].
Figure 1: Radiograph of both ankle joints (lateral view) showing bilaterally symmetrical swelling at the posterior aspect of ankle joints

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Figure 2: MRI image of right ankle T1/T2 images showing diffuse fusiform swelling of the Achilles tendon

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Figure 3: MRI image of brain T2-weighted image showing hyperintensity in deep white matter of bilateral parieto-occipital lobes

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Figure 4: MRI image of brain T1-weighted image showing mild hypointensity in bilateral dentate nuclei

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Figure 5: Photomicrograph of fine needle aspiration cytology of ankle swelling showing multinucleated giant cell and foamy macrophages consistent with xanthomas

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Conflicts of interest

There are no conflicts of interest.

  References Top

Arunachalam P, Agrawal A, Chaudhari S, Shukla A. Cerebrotendinous xanthomatosis-The spectrum of imaging findings. J Radiol Case Rep 2013;7:1-9.  Back to cited text no. 1
Gaikwad SB, Garg A, Mishra NK, Gupta V, Srivastava A, Sarkar C. Cerebrotendinous xanthomatosis: Neuroimaging findings in two siblings from an Indian family. Neurol India 2003;51:401-3.  Back to cited text no. 2
[PUBMED]  [Full text]  
Dotti MT, Federico A, Signorini E, Caputo N, Venturi C, Filosomi G, et al. Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings. AJNR Am J Neuroradiol 1994;15:1721-6.  Back to cited text no. 3


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]


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