Cerebrotendinous xanthomatosis: Clinical and neuroimaging findings
نویسندگان
چکیده
منابع مشابه
Cerebrotendinous xanthomatosis patients with and without parkinsonism: clinical characteristics and neuroimaging findings.
Parkinsonism in cerebrotendinous xanthomatosis (CTX) is rare. There are no published studies with imaging findings of dopamine transporter using (99m)Tc-[2-[[2-[[[3-(4-chlorophenyl)-8-methyl-8-azabicyclo [3,2,1] oct-2-yl] methyl] (2-mercaptoethyl) amino] ethyl] amino]-ethanethiolato(3-)-N2,N2,S2,S2]oxo-[1R-(exo-exo)] ((99m)Tc-TRODAT-1) SPECT in CTX patients. This report is on the clinical detai...
متن کاملCerebrotendinous xanthomatosis--the spectrum of imaging findings.
Cerebrotendinous xanthomatosis (CTX), also known as Van Bogaert-Scherer-Epstein disease is a rare autosomal recessive genetic disorder of the lipid metabolism. To date, there are less than 300 cases reported worldwide. We present a case of a 30 year old male who presented with mental retardation and swelling of ankles, with the a spectrum of CTX imaging findings. Imaging studies were performed ...
متن کاملCerebrotendinous xanthomatosis
Cerebrotendinous Xanthomatosis (CTX; OMIM #213700) is a rare lipid storage metabolic disease with autosomal recessive inheritance. It is characterized by deficiency of mitochondrial sterol 27-hydroxylase (CYP27) which is a key enzyme in bile acid biosynthesis. The enzyme converts cholesterol into bile acids hence deficiency results in abnormal deposition of cholesterol and cholestenol in multip...
متن کاملCerebrotendinous xanthomatosis.
Cerebrotendinous xanthomatosis is a rare genetic metabolic disorder of cholesterol and bile acid metabolism that results in systemic and neurologic abnormalities. Typically, the disease begins in infancy with chronic diarrhoea. Cataracts become evident in childhood or adolescence, and xanthomata develop in the second and third decades of life. Significant neurologic impairment also occurs; this...
متن کاملCerebrotendinous xanthomatosis
Cerebrotendinous Xanthomatosis (CTX; OMIM #213700) is a rare lipid storage metabolic disease with autosomal recessive inheritance. It is characterized by deficiency of mitochondrial sterol 27-hydroxylase (CYP27) which is a key enzyme in bile acid biosynthesis. The enzyme converts cholesterol into bile acids hence deficiency results in abnormal deposition of cholesterol and cholestenol in multip...
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ژورنال
عنوان ژورنال: Archives of Medicine and Health Sciences
سال: 2020
ISSN: 2321-4848
DOI: 10.4103/amhs.amhs_169_19