Neonatal Spinal Muscular Atrophy Type 1 With Bone Fractures and Heart Defect
| Autor: | Andres Kulla, Tiina Talvik, Inga Talvik, Andres Piirsoo, Tuuli Metsvaht, Hiljar Sibul, Katre Maasalu, Eve Vaidla |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Heart Defects
Congenital Red nucleus medicine.medical_treatment SMN1 Spinal Muscular Atrophies of Childhood Fractures Bone 03 medical and health sciences 0302 clinical medicine 030225 pediatrics Systolic heart murmur medicine Humans Mechanical ventilation business.industry Infant Newborn Electromyoneurography Spinal muscular atrophy Anatomy medicine.disease Spinal cord medicine.anatomical_structure Pediatrics Perinatology and Child Health Female Cortical bone Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Child Neurology. 22:67-70 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/0883073807299954 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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