Cerebrotendinous xanthomatosis revisited.

Baghbanian, Seyed Mohammad; Mahdavi Amiri, Mohammad Reza; Majidi, Hadi

Baghbanian, Seyed Mohammad; Mahdavi Amiri, Mohammad Reza; Majidi, Hadi.

Afiliación

Baghbanian SM; Faculty of Medicine, Department of Neurology, Mazandaran University of Medical Sciences, Sari, Iran mohammadbaghbanian@gmail.com.
Mahdavi Amiri MR; Laboratory Sciences, Medical Genetics, School of Allied Medical Sciences, Thalassemia Research Center, Hemoglobinopathy Research Institute, Mazandaran University of Medical Sciences, Sari, Iran.
Majidi H; Department of Radiology, Orthopedic Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.

Pract Neurol ; 21(3): 243-245, 2021 Jun.

Article en En | MEDLINE | ID: mdl-33853856

ABSTRACT

ABSTRACT

Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia.

Asunto(s)

Catarata; Degeneraciones Espinocerebelosas; Xantomatosis Cerebrotendinosa; Xantomatosis; Adulto; Femenino; Humanos; Xantomatosis Cerebrotendinosa/complicaciones

Palabras clave

MRI; cerebellar ataxia; cerebrotendinous xan

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Catarata / Xantomatosis / Degeneraciones Espinocerebelosas / Xantomatosis Cerebrotendinosa Límite: Adult / Female / Humans Idioma: En Revista: Pract Neurol Año: 2021 Tipo del documento: Article País de afiliación: Irán

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