A Rare Case of Ophthalmoplegia with Ataxia in Genetically Proven Abetalipoproteinemia.

Autor:	Gurram, Sandeep, Holla, Vikram V., Sriram, Neeharika, Phulpagar, Prashant, Jha, Shreyashi, Sharma, Praveen, Mallithavana, Siddaya, Kamble, Nitish, Netravathi, Manjunath, Yadav, Ravi, Muthusamy, Babylakshmi, Pal, Pramod Kumar
Předmět:	EYE paralysis ATAXIA MOVEMENT disorders ESSENTIAL tremor FAT-soluble vitamins SYMPTOMS DEEP brain stimulation
Zdroj:	Movement Disorders Clinical Practice; Mar2023, Vol. 10 Issue 3, p514-517, 4p
Abstrakt:	Keywords: abetalipoproteinemia; ophthalmoplegia; ataxia; MTTP EN abetalipoproteinemia ophthalmoplegia ataxia MTTP 514 517 4 03/23/23 20230301 NES 230301 Abetalipoproteinemia is an uncommon potentially treatable cause of early-onset ataxia associated with retinitis pigmentosa and acanthocytes. Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia. However, atypical retinal pigmentation retinopathy and diarrhea with fat malabsorption favored abetalipoproteinemia over other diagnostic possibilities. [Extracted from the article]
Databáze:	Complementary Index
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