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Updated: Jan 26, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
[Susac syndrome is an important differential diagnosis in monosymptomatic encephalopathy in young adults]
Caroline Ellinore Weinsjö1, Gitte Buhl-Jensen, Marianne Wegener
1carolineweinsjo@hotmail.com.
Abstract:
This is a case report of a 29-year-old man, who presented with progressive confusion, memory problems and personality changes during 1.5 months. Later, he developed bilateral hearing impairment but had no visual symptoms. A brain MRI showed numerous small hyperintensities in both hemispheres, a retinal fluorescence angiography revealed multiple hyperfluorescent arterial occlusions, and an audiogram showed bilateral hearing impairment. The patient was treated for Susac syndrome with high-dose corticosteroids initially, followed by intravenous immunoglobulin and cyclophosphamide.
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