A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor

Malco Rossi,Angel Cammarota,Emilia M Gatto,Martin Cesarini,Marcelo Merello

doi:10.5334/tohm.411

Abstract

Background: Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms. Case Report: An adult patient with cerebrotendinous xanthomatosis exhibited ataxia and palatal tremor in the absence of tendon xanthomas and cataracts. Discussion: The importance of this case resides on the fact that cerebrotendinous xanthomatosis should be considered as a possible etiology of the syndrome of progressive ataxia with palatal tremor, even in the absence of tendon xanthomas and cataracts. Early diagnosis is critical to the institution of specific treatment with chenodeoxycholic acid.

Highlights

A Treatable Rare Cause of Progressive Ataxia and Palatal TremorMalco Rossi1*, Martin Cesarini[2], Emilia M
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disorder characterized by infantile or early childhood onset of chronic diarrhea, tendon xanthomas, cataracts, and neurological problems, such as behavioral disorders, cognitive impairment, peripheral neuropathy, dystonia, parkinsonism, epilepsy, myoclonus, and progressive cerebellar ataxia, that usually start in the second or third decades of life.[1,2] This disease is caused by mutations in the CYP27A1 gene that result in decreased production of chenodeoxycholic acid and elevated levels of cholestanol and bile alcohols.[3]
Cerebrotendinous xanthomatosis revealed by ataxia and palatal tremor in the absence of tendon xanthomas and cataracts