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

Rare case of Early Cerebrotendinous Xanthomatosis in an Adolescent Male

Anirban Gupta1, Akhilesh Rao2, Anil S Menon3, Yashasvi Shukla2,  
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

Correspondence Address:
Dr. Anirban Gupta
Department of Neurology, Command Hospital (CC), Lucknow - 226 002, Uttar Pradesh

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;69:775-776

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 Sep 21 ];69:775-776
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Full Text

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}{Figure 2}{Figure 3}{Figure 4}{Figure 5}

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1Arunachalam P, Agrawal A, Chaudhari S, Shukla A. Cerebrotendinous xanthomatosis-The spectrum of imaging findings. J Radiol Case Rep 2013;7:1-9.
2Gaikwad 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.
3Dotti 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.