title: Diaphragmatic paralysis due to partial diaphragmatic hypoplasia mimicking a localized muscular dystrophy: a case report.
abstract: A case of congenital diaphragmatic paralysis is reported in an infant who died because of respiratory failure at the age of 5 weeks. The histologic findings show a dystrophy-like muscle pathology restricted to the diaphragm with a normal somatic peripheral musculature and normal phrenic nervous structures. The previous death of a male sibling because of diaphragmatic eventration suggests that this case of diaphragmatic paralysis could have been a consequence of a partial and random hypoplasia of muscle fibers, mimicking an isolated muscle dystrophy of the diaphragm.
authors.affiliation: Human Biopathological Department, University "La Sapienza", Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Bosman
authors.forename: V
authors.initials: V
authors.lastname: Bachelet
authors.forename: R
authors.initials: R
authors.lastname: Boldrini
authors.forename: E
authors.initials: E
authors.lastname: Bertini
mesh_terms: D001921:Brain / Q000473:pathology; D003964:Diaphragm / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000473:pathology; D009206:Myocardium / Q000473:pathology; D010791:Phrenic Nerve / Q000473:pathology; D012132:Respiratory Muscles / Q000473:pathology; D012133:Respiratory Paralysis / Q000209:etiology* / Q000473:pathology