title: Infantile spinal muscular atrophy (morbus Werdnig-Hoffmann) causing neonatal asphyxia.
abstract: A case of infantile spinal muscular atrophy (Werdnig-Hoffmann's disease) with complete proximal pareses obvious at birth giving rise to neonatal asphyxia is reported. Reduction of fetal movements was noted from the 32nd week of pregnancy. The infant was extremely floppy at birth and spontaneous movements were restricted to hands, feet and face. Fibrillations of the tongue, diaphragmatic hemiparesis and dysphagia were observed. Unassisted ventilation was not compatible with survival and the infant succumbed to the disease in the neonatal period. Muscle biopsy and autopsy confirmed the clinical diagnosis. Infantile spinal muscular atrophy causing neonatal asphyxia seems to be unusual and not earlier described. Constant muscular hypotonus in an asphyctic newborn should raise suspicion of a neuromuscular disorder.
mesh_terms: D001238:Asphyxia Neonatorum / Q000209:etiology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000150:complications / Q000235:genetics* / Q000473:pathology; D013577:Syndrome