This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Vaidla, E. Articles by Talvik, T. Search for Related Content PubMed PubMed Citation Articles by Vaidla, E. Articles by Talvik, T. Social Bookmarking                   What's this?

Neonatal Spinal Muscular Atrophy Type 1 With Bone Fractures and Heart Defect

Department of Pediatrics, Tartu University, Tartu, Estonia

Inga Talvik, MD

Pediatric Neurology Unit, Children's Clinic of Tartu University Clinics, Tartu, Estonia

Andres Kulla, MD, PhD

Department of Pathology, Tartu University Clinics, Tartu, Estonia

Hiljar Sibul, MD

Molecular Diagnostics Center of United Laboratories of Tartu University Clinics, Tartu, Estonia

Katre Maasalu, MD

Department of Traumatology and Orthopedics, Tartu University Clinics, Tartu, Estonia

Tuuli Metsvaht, MD

Neonatal Intensive Care Unit, Anesthesiology and Intensive Care Clinic of Tartu University Clinics, Tartu, Estonia

Andres Piirsoo, PhD

Institute of General and Molecular Pathology, Tartu University, Tartu, Estonia

Tiina Talvik, MD, PhD

Department of Pediatrics, Tartu University, Tartu, Estonia, tiina.talvik{at}kliinikum.ee, Pediatric Neurology Unit, Children's Clinic of Tartu University Clinics, Tartu, Estonia

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.

Key Words: spinal muscular atrophy • bone fractures • heart defect • SMN1 • degeneration of red nucleus

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

				M. P. Walker, T.K. Rajendra, L. Saieva, J. L. Fuentes, L. Pellizzoni, and A. G. Matera SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain Hum. Mol. Genet., November 1, 2008; 17(21): 3399 - 3410. [Abstract] [Full Text] [PDF]

				S Rudnik-Schoneborn, R Heller, C Berg, C Betzler, T Grimm, T Eggermann, K Eggermann, R Wirth, B Wirth, and K Zerres Congenital heart disease is a feature of severe infantile spinal muscular atrophy J. Med. Genet., October 1, 2008; 45(10): 635 - 638. [Abstract] [Full Text] [PDF]