title: Facioscapulohumeral dystrophy associated with sensorineural hearing loss, tortuosity of retinal arterioles, and an early onset and rapid progression of respiratory failure.
abstract: Two sibling cases of facioscapulohumeral dystrophy (FSHD) are described. One was characterized by sensorineural hearing loss, marked tortuosity of retinal arterioles, an early onset and progression of severe restrictive-type pulmonary dysfunction, and cor pulmonale. The other had a mild course of FSHD without involvement of any other organ than muscles at the time of diagnosis. Recently, a new nosological entity of FSHD, with sensorineural hearing loss and tortuosity of retinal arterioles, was advocated. Our cases, especially the first case, seem to belong to this newly recognized entity of FSHD. Moreover, it is noteworthy that our first case exhibited rapid aggravation of severe restrictive-type respiratory failure and cor pulmonale, leading to death, which was never seen in any other reported cases.
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Yasukohchi
authors.forename: Y
authors.initials: Y
authors.lastname: Yagi
authors.forename: T
authors.initials: T
authors.lastname: Akabane
authors.forename: A
authors.initials: A
authors.lastname: Terauchi
authors.forename: K
authors.initials: K
authors.lastname: Tamagawa
authors.forename: Y
authors.initials: Y
authors.lastname: Mizuno
mesh_terms: D000293:Adolescent; D001160:Arterioles / Q000473:pathology; D001706:Biopsy; D002648:Child; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000209:etiology* / Q000235:genetics; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics / Q000473:pathology; D012131:Respiratory Insufficiency / Q000209:etiology* / Q000235:genetics; D012160:Retina / Q000098:blood supply* / Q000473:pathology; D013577:Syndrome