A preventable ataxia: Cerebrotendinous xanthomatosis

Abstract

Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development of cognitive decline and adult onset ataxia in a 35-year-old man. He had poor scholastic performance in childhood followed by gradually progressive cognitive decline. He presented to us with severe cerebellar ataxia and oculomotor apraxia. The key features that led to the diagnosis of CTX were the history of cataracts in childhood and Achilles tendon xanthoma. His brain magnetic resonance imaging showed characteristic features of CTX, and the diagnosis was confirmed by demonstrating the mutation in exon 2 of the CYP27A1 gene. The recognition of CTX earlier could have prevented his significant disabilities. The definitive treatment is oral chenodeoxycholic acid, which will prevent the accumulation of the cholestanol, which is thought to be responsible for the neurotoxicity.

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

“…87 MRI of the spinal cord was performed (or reported) in only 26 cases, with 18/27 of them showing T2-weighted hyperintense lesions. 28,34,38,41,42,46,50,51,57,58,70,71,72,96,144,171 Additionally, Patient 6, reported by us, presented multiple hyperintense T2-weighted changes in the posterior spinal cord C-Th regions. Furthermore, multiple nodular thickening of the nerve roots and trunks of the lumbosacral plexus was described on MRI neurography.…”

Achilles swelling and ataxia in an adolescent: A case report of cerebrotendinous xanthomatosis

“…CTX, also known as Van Bogaert-Scherer-Epstein disease, is an extremely rare genetic illness that was originally described in 1937 [ 6 , 7 ]. Setoguchi et al.…”

“…Mutations in the CYP27A1 gene on chromosome 2q33-qter cause this condition [1] . Despite the fact that 54 distinct mutations have been identified, no established link between genotype and phenotype has been discovered [7] . The mitochondrial enzyme sterol 27-hydroxylase is encoded by this gene.…”

“…Cerebellar atrophy, white matter signal changes, bilateral and symmetrical hyperintensities in the dentate nuclei, globus pallidus, substantia nigra, and inferior olive are among the most prevalent neuroimaging findings in CTX patients [ 8 , 7 ] ( Fig. 3 ).…”