From the Department of Neurology (B.P.M.), Massachusetts General Hospital, Brigham and Women’s Hospital; and Division of Rheumatology (R.H.S.), Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA.
Address correspondence and reprint requests to Dr. Brijesh P. Mehta, Resident Physician, Department of Neurology, Massachusetts General Hospital, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115 bmehta{at}partners.org
A 57-year-old man with cerebrotendinous xanthomatosis (CTX)was admitted to the hospital after a fall. He had been diagnosedwith CTX in his 30s and had had numerous complex-partial seizures,which occur in 50% of adult patients.1 Seizures were characterizedby staring spells and speech deficits, occasionally generalizingto tonic-clonic leg movements. He had marked enlargement ofthe tongue and Achilles tendons (figure, A–D). Neurologicexamination was notable for dementia, spasticity, and ataxia.Brain MRI revealed lesions in the temporal lobes, globus pallidus,and dentate nucleus of the cerebellum (figure, E, F), thoughtto be from lipid accumulation and reactive astrocytosis.2 Additionally,hemosiderin deposits with calcification were present in thecerebellar hemispheres (figure, G, H). Biochemical testing revealeda high plasma cholestanol level (3.04 mg/dL, >10 times normal).Thepatient had been treated with chenodeoxycholic acid, but didnot receive it for over a year because of short supply worldwide.Lack of recent therapy was associated with an increased frequencyof seizures, prominent tongue protrusion, and further enlargementof the Achilles tendons.
Figure Patient with cerebrotendinous xanthomatosis
Physical examination demonstrated enlargement of the tongue (A) and Achilles tendons (B). Axial (C) and sagittal (D) T1-weighted MRI scans confirmed hypertrophy of the Achilles tendons. Brain MRI FLAIR sequences showed cortical and subcortical hyperintensities in the temporal lobes (arrows, E) and globus pallidus (arrowheads, E). T2-weighted MR images revealed cerebellar hyperintensities within the dentate nucleus (F). Hypointensities were seen on T1-weighted and susceptibility MRI scans within the cerebellum at the level of the midbrain (G, H).
Federico A, Dotti MT. Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy. J Child Neurol 2003;18:633–638.[Abstract/Free Full Text]
Barkhof F, Verrips A, Wesseling P, et al. Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathological findings. Radiology 2000;217:869–876.[Abstract/Free Full Text]
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