Yonsei medical journal
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Yonsei medical journal · Jan 2021
Case ReportsTwo Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea.
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness of facial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the face to the legs in an asymmetric pattern. In about 5% of patients with FSHD, no D4Z4 repeat contraction on chromosome 4q35 is observed; this disease entity is called FSHD2. ⋯ We report the first two cases of FSHD2 in Korea, carrying c.3801delG and c.1580C>T mutations in the SMCHD1 gene, respectively. For rapid and accurate diagnosis of FSHD2, genetic analysis of the D4Z4 haplotype and methylation with next-generation sequencing are required.
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Yonsei medical journal · Jan 2021
Case ReportsWingspan Stenting for Symptomatic Severe In-Stent Stenosis of a Closed-Cell Stent after Stent-Assisted Coiling of a Ruptured Intracranial Aneurysm.
We report the 3-year follow-up result of Wingspan intracranial stenting for symptomatic severe in-stent stenosis after stent-assisted coiling (SAC) for a ruptured left distal internal carotid artery (ICA) aneurysm. A middle-aged male patient visited our hospital for in-stent stenosis of a stent that was placed to treat a ruptured ICA aneurysm. Routine follow-up cerebral angiography, 1 year after SAC, showed in-stent stenosis around the distal markers of the inserted stent at the left M1 proximal segment. ⋯ Follow-up digital subtraction angiography performed 1 year after the Wingspan stenting showed good patency of the ICA and middle cerebral artery flow without evidence of restenosis. At 3-year follow-up, magnetic resonance angiography showed sufficient middle cerebral artery flow although the stenting segment could not be visualized clearly. Wingspan stenting might be a feasible option in patients with iatrogenic intracranial stenosis resulting from in-stent stenosis who experience the progression of intracranial stenosis with manifestation of neurological symptoms despite dual anti-platelet therapy.