Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0086-7
Abstract: BackgroundCerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability… read more here.
Keywords: frequent feature; xanthomatosis; ctx; spectrum disorder ... See more keywords
Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline
Sign Up to like & getrecommendations! Published in 2018 at "Cytopathology"
DOI: 10.1111/cyt.12573
Abstract: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease caused by inactivating mutations in the CYP27A1 gene, encoding for sterol 21-hydroxylase, a mitochondrial enzyme, involved in bile acid synthesis. First reported by Bogaert in… read more here.
Keywords: xanthomatosis; xanthomatosis two; cytological diagnosis; cerebrotendinous xanthomatosis ... See more keywords
Teaching NeuroImages: Cerebrotendinous xanthomatosis
Sign Up to like & getrecommendations! Published in 2018 at "Neurology"
DOI: 10.1212/wnl.0000000000004967
Abstract: A 39-year-old previously healthy man presented with insidiously progressive paresthesia in his lower extremities and worsening of gait and balance. MRI demonstrated T2-hyperintense signal abnormalities involving the thalami, midbrain, dentate nuclei, and adjacent deep cerebellar… read more here.
Keywords: neuroimages cerebrotendinous; xanthomatosis; serology; spectroscopy ... See more keywords
Spinal xanthomatosis: A misdiagnosed, treatable cause of progressive myelopathy.
Sign Up to like & getrecommendations! Published in 2020 at "Neurology"
DOI: 10.1212/wnl.0000000000010194
Abstract: A 57-year-old woman presented with a 20-year history of progressive lower extremity weakness, spasticity, and proprioception deficits. She was given a diagnosis of primary progressive multiple sclerosis at age 38. Her Achilles tendons were enlarged… read more here.
Keywords: xanthomatosis; treatable cause; spinal xanthomatosis; misdiagnosed treatable ... See more keywords
A Preventable Ataxia: Cerebrotendinous Xanthomatosis
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_126_18
Abstract: Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the… read more here.
Keywords: ataxia cerebrotendinous; xanthomatosis; preventable ataxia; cerebrotendinous xanthomatosis ... See more keywords
Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report
Sign Up to like & getrecommendations! Published in 2017 at "Annals of Rehabilitation Medicine"
DOI: 10.5535/arm.2017.41.2.313
Abstract: Cerebrotendinous xanthomatosis is a rare autosomal recessive disease that involves multiple organs, including the peripheral nervous system. The present study is the first to report the ultrasonographic findings of peripheral nerves in a patient with… read more here.
Keywords: sonographic findings; xanthomatosis; findings polyneuropathy; report ... See more keywords