Open AccessSelf-mutilation as a clinical manifestation of Cerebrotendinous Xanthomatosis
Author(s) -
Gustavo Carvalho Costa,
Carolina Maria Marin,
Igor Braga Farias,
Bruno de Mattos Lombardi Badia,
Emília Correia Souto,
Icaro França Navarro Pinto,
Roberta Ismael Lacerda Machado,
Paulo Victor Sgobbi de Souza,
Wladimir Bocca Vieira de Rezende Pinto,
Acary Souza Bullé Oliveira
Publication year - 2021
Language(s) - English
Resource type - Conference proceedings
DOI - 10.5327/1516-3180.063
Subject(s) - cerebrotendinous xanthomatosis , cyp27a1 , psychosis , psychiatry , pediatrics , ataxia , medicine , borderline personality disorder , psychology , bile acid , cholesterol
Cerebrotendinous xanthomatosis (CTX) is a rare neurological entity, which consists of an autosomal recessive inherited disorder of bile acid biosynthesis due to CYP27A1 variants, with variable systemic and neurological clinical presentation. Psychiatric signs are also observed at early adulthood and includes behavioral and personality changes, depression and psychosis. However, self-mutilation has not been previously described. Case report: We attend to two sisters with a unique clinical presentation. The first patient, 33 years old, presented epilepsy at 17, in addition to cognitive impairment and tendon xanthomas. A severe depressive condition was established at 25. A year ago, she had frequent bites on his lips and tongue. The second patient, 28 years old, had chronic diarrhea and juvenile cataract in childhood. Axial ataxia has been observed since age 18. After 3 years, she presented psychiatric decline marked by visual, auditory hallucinations and persecutory delirium. Four months ago she showed signs of self-mutilation with a sting in the phalanges of his hands. Both patients had elevated plasma cholestanol and 7-dehydro-cholesterol. The genetic test showed a homozygous c.1183 C>T (p.Arg395Cys) variant in the CYP27A1 gene. Conclusion: The reports illustrate the relevance of self-mutilation in CTX, an unprecedented clinical presentation that should be remembered as another differential diagnosis with this phenomenology.