KEARNS-SAYRE SYNDROME MASQUERADING AS MYASTHENIA GRAVIS.

Autor:	Sokol JT; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts; and., Hoyek S; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts; and., Fulton AB; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Patel NA; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts; and.; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Jazyk:	angličtina
Zdroj:	Retinal cases & brief reports [Retin Cases Brief Rep] 2024 May 01; Vol. 18 (3), pp. 396-399.
DOI:	10.1097/ICB.0000000000001397
Abstrakt:	Purpose: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that is characterized by the triad of onset commonly before age 20, pigmentary retinopathy, and chronic progressive external ophthalmoplegia. Here, we present a case of KSS masquerading as myasthenia gravis. Methods: Case report. Results: A 15-year-old boy with a presumed diagnosis of myasthenia gravis presented with blurry vision, ophthalmoplegia, and ptosis. He was found to have a mitochondrial pigmentary retinopathy and was eventually diagnosed with KSS after mitochondrial DNA sequencing revealed a novel large-scale deletion of 7.9 kb of mitochondrial DNA from nucleotides 6,578 to 14,460. Conclusion: We report a case of KSS found to have a novel large-scale mitochondrial DNA deletion. The presence of a mitochondrial pigmentary retinopathy found on dilated examination led to reconsideration of the previous diagnosis of myasthenia gravis and ultimately led to the correct diagnosis of KSS.
Databáze:	MEDLINE
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