RESUMO
BACKGROUND AND PURPOSE: The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later involvement of contracture and limb-girdle muscular dystrophy type 1B is often delayed due to heterogeneous clinical presentations. We aimed to determine the clinical features that contribute to a delayed diagnosis. METHODS: We reviewed four patients who were recently diagnosed with LMNA-associated muscular dystrophy by targeted exome sequencing and who were initially diagnosed with nonspecific or other types of muscular dystrophy. RESULTS: Certain clinical features such as delayed contracture involvement and calf hypertrophy were found to contribute to a delayed diagnosis. Muscle biopsies were not informative for the diagnosis in these patients. CONCLUSIONS: Genetic testing of single or multiple genes is useful for confirming a diagnosis of LMNA-associated muscular dystrophy. Even EDMD patients could experience the later involvement of contracture, so clinicians should consider early genetic testing for patients with undiagnosed muscular dystrophy or laminopathy.
Assuntos
Humanos , Biópsia , Contratura , Diagnóstico Tardio , Diagnóstico , Diagnóstico Precoce , Exoma , Testes Genéticos , Hipertrofia , Distrofias Musculares , Distrofia Muscular do Cíngulo dos Membros , Distrofia Muscular de Emery-DreifussRESUMO
Spontaneous dissection of the middle cerebral artery could result in thromboembolic stroke caused by the intramural hematoma. Dissection should be considered as a possible etiology in a young stroke patient, but it is not straightforward in an emergency situation. Moreover, the efficacy and safety of thrombolytic treatment in the acute stage are unknown. We applied intravenous and intra-arterial stent thrombectomy with the Solitaire device successfully in a patient with acute left middle cerebral artery occlusion due to spontaneous dissection.
Assuntos
Humanos , Emergências , Hematoma , Infarto , Infarto da Artéria Cerebral Média , Artéria Cerebral Média , Stents , Acidente Vascular Cerebral , TrombectomiaRESUMO
No abstract available.