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DOI: 10.1055/a-2040-3480
Long-term Electrodiagnostic Changes in Barraquer-Simons Syndrome: A Case Report
Elektrodiagnostische Langzeitveränderungen beim Barraquer-Simons Syndrom: eine Fallvorstellung
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.
Publication History
Received: 10 September 2022
Accepted: 14 February 2023
Article published online:
25 April 2023
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