Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome.
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.
Department of Neurology, Jagiellonian University Medical College, Krakow, Poland. Electronic address: mostroff@interia.pl.
Monika
M
Ostrowska
Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
Krzysztof
K
Banaszkiewicz
Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
Anna
A
Kiławiec
Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
Teresa
T
Róg
Institute of Clinical Chemistry and Clinical Pharmacology, University Clinics of Bonn, Bonn, Germany.
Dieter
D
Lütjohann
Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
Andrzej
A
Szczudlik
D000328:Adult; D002635:Chenodeoxycholic Acid / Q000008:administration & dosage; D004083:Cholestanol / Q000097:blood; D004827:Epilepsy / Q000209:etiology / Q000628:therapy; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000628:therapy; D007653:Ketocholesterols / Q000097:blood; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000209:etiology / Q000628:therapy; D035583:Rare Diseases; D020754:Spinocerebellar Ataxias / Q000097:blood / Q000188:drug therapy* / Q000209:etiology*; D019294:Xanthomatosis, Cerebrotendinous / Q000097:blood / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy*
D007653:Ketocholesterols; D002635:Chenodeoxycholic Acid; D004083:Cholestanol; C003001:7-ketocholesterol