Cerebrotendinous xanthomatosis - A case report

Autor:	Arshed Hussain Parry, Abdul Haseeb Wani, Muiez Bashir, Tariq A Gojwari
Jazyk:	angličtina
Rok vydání:	2019
Předmět:	cerebrotendinous xanthomatosis cholestanol dentate nucleus Medical physics. Medical radiology. Nuclear medicine R895-920
Zdroj:	Indian Journal of Radiology and Imaging, Vol 29, Iss 03, Pp 332-334 (2019)
Druh dokumentu:	article
ISSN:	0971-3026 1998-3808
DOI:	10.4103/ijri.IJRI_444_18
Popis:	Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular, vascular, and musculoskeletal symptoms from deposition of cholestanol and cholesterol in these tissues. We present clinical and imaging features of a 32-year-old female who presented with mental retardation, gait instability and swelling along posterior aspect of both ankles. Imaging studies were performed which revealed spectrum of CTX findings in brain and tendons. Subsequently the diagnosis was confirmed by biopsy and laboratory tests.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/6254d73dd269454586e85db300e35a76 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
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