open access

Vol 45, No 6 (2011)
OPIS PRZYPADKU
Submitted: 2011-01-13
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Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome

Monika Ostrowska, Krzysztof Banaszkiewicz, Anna Kiławiec, Teresa Róg, Dieter Lütjohann, Andrzej Szczudlik
DOI: 10.1016/S0028-3843(14)60128-6
·
Neurol Neurochir Pol 2011;45(6):600-603.

open access

Vol 45, No 6 (2011)
OPIS PRZYPADKU
Submitted: 2011-01-13

Abstract

A 34-year-old patient demonstrating pyramidal and cerebellar signs, accompanied by epilepsy, peripheral neuropathy, mental retardation and bilateral cataract was diagnosed with cerebrotendinous xanthomatosis based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis. Tendon xanthomas were not observed in this case. After establishing the diagnosis, treatment with chenodeoxycholic acid and statin was introduced. During the next two years of the follow-up, serum cholestanol and 7α-hydroxycholesterol levels decreased in response to the therapy, but this was not reflected in the patient's neurological condition, which was slowly progressing. Treatment effectiveness in cerebrotendinous xanthomatosis is variable, notably better in patients who had started therapy before the injury to the nervous system took place. The present case report points to cerebrotendinous xanthomatosis as a rare cause of spinocerebellar syndrome, which might be treatable if diagnosed in early life.

Abstract

A 34-year-old patient demonstrating pyramidal and cerebellar signs, accompanied by epilepsy, peripheral neuropathy, mental retardation and bilateral cataract was diagnosed with cerebrotendinous xanthomatosis based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis. Tendon xanthomas were not observed in this case. After establishing the diagnosis, treatment with chenodeoxycholic acid and statin was introduced. During the next two years of the follow-up, serum cholestanol and 7α-hydroxycholesterol levels decreased in response to the therapy, but this was not reflected in the patient's neurological condition, which was slowly progressing. Treatment effectiveness in cerebrotendinous xanthomatosis is variable, notably better in patients who had started therapy before the injury to the nervous system took place. The present case report points to cerebrotendinous xanthomatosis as a rare cause of spinocerebellar syndrome, which might be treatable if diagnosed in early life.

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Keywords

cerebrotendinous xanthomatosis, spinocerebellar syndrome, treatment

About this article
Title

Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 45, No 6 (2011)

Pages

600-603

DOI

10.1016/S0028-3843(14)60128-6

Bibliographic record

Neurol Neurochir Pol 2011;45(6):600-603.

Keywords

cerebrotendinous xanthomatosis
spinocerebellar syndrome
treatment

Authors

Monika Ostrowska
Krzysztof Banaszkiewicz
Anna Kiławiec
Teresa Róg
Dieter Lütjohann
Andrzej Szczudlik

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