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Klin Monbl Augenheilkd 2023; 240(04): 532-535
DOI: 10.1055/a-2040-3480
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Long-term Electrodiagnostic Changes in Barraquer-Simons Syndrome: A Case Report

Elektrodiagnostische Langzeitveränderungen beim Barraquer-Simons Syndrom: eine Fallvorstellung
Driton Gjukaj‡
1   Department of Ophthalmology, Cantonal Hospital Saint Gallen, Saint Gallen, Switzerland
,
Naser Musli‡
2   Faculty of Medicine, University of Zürich, Zürich, Switzerland
,
Margarita G. Todorova
1   Department of Ophthalmology, Cantonal Hospital Saint Gallen, Saint Gallen, Switzerland
3   Department of Ophthalmology, University Hospital Basel, Basel, Switzerland
4   Department of Ophthalmology, University of Zürich, Zürich, Switzerland
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Background

Barraquer-Simons syndrome, also called acquired partial lipodystrophy, is a rare disorder beginning in childhood or at puberty [1]. In some cases, a heterozygous mutation on chromosome 19p13 is evident [2]. The diagnosis is primarily based on typical clinical findings of symmetric subcutaneous fat loss over the face followed by fat loss in the upper half of the body with fat accumulation in the lower half of the body over time ([Fig. 1]). Systemic involvement is common and includes membranoproliferative glomerulonephritis (MPGN), metabolic syndrome, myopathy, deafness, epilepsy, and intellectual disability [3]. Specific retinal changes as, for instance, drusen, atrophic lesions, pigmentations, and development of choroidal neovascular membranes, are reported in patients with Barraquer-Simons syndrome [4], [5], [6]. The presented case aims to describe the long-term electrodiagnostic changes in a patient with Barraquer-Simons syndrome.



Publikationsverlauf

Eingereicht: 10. September 2022

Angenommen: 14. Februar 2023

Artikel online veröffentlicht:
25. April 2023

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