title: Neonatal spinal muscular atrophy type 1 with bone fractures and heart defect.
abstract: The authors present the case of an infant girl with severe generalized weakness, multiple bone fractures, and heart defect. She needed mechanical ventilation from birth. Radiographs showed mid-diaphyseal fractures of both humeri and of the right femur as well as generalized osteopenia. Electroneuromyography showed spontaneous fibrillations at rest with no active movements. Motor response to a stimulus could not be registered. A systolic heart murmur was detected, and echocardiography showed a large atrial septal defect and an additional membrane in the left atrium. DNA analysis confirmed the diagnosis of spinal muscular atrophy on the third day of life. Histology of the muscle showed both hypertrophic and atrophic fibers. Degenerating swollen neurons were found in the ventral horns of the spinal cord and also in the mesencephalic red nucleus, which has not been described before. Humeral bone showed only partly formed cortical bone. The spectrum of spinal muscular atrophy is very diverse, and atypical clinical findings do not always rule out 5q spinal muscular atrophy. The SMN1 gene should still be investigated.
authors.affiliation: Department of Pediatrics, Tartu University, 6 Lunini Street, Tartu 51014, Estonia.
authors.forename: Eve
authors.initials: E
authors.lastname: Vaidla
authors.forename: Inga
authors.initials: I
authors.lastname: Talvik
authors.forename: Andres
authors.initials: A
authors.lastname: Kulla
authors.forename: Hiljar
authors.initials: H
authors.lastname: Sibul
authors.forename: Katre
authors.initials: K
authors.lastname: Maasalu
authors.forename: Tuuli
authors.initials: T
authors.lastname: Metsvaht
authors.forename: Andres
authors.initials: A
authors.lastname: Piirsoo
authors.forename: Tiina
authors.initials: T
authors.lastname: Talvik
mesh_terms: D005260:Female; D050723:Fractures, Bone / Q000150:complications* / Q000473:pathology; D006330:Heart Defects, Congenital / Q000150:complications* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000473:pathology