Pestana Magali Andrea*, Maria Lucia Martinez, Juan Manuel, Joaquin Pedre, Guadalupe Albornoz and Pedraza Ana Maria

Department of Neonatology, Suizo Argentina Clinic and Maternity - University of Buenos Aires, Argentina

*Corresponding Author: Pestana Magali Andrea, Department of Neonatology, Suizo Argentina Clinic and Maternity - University of Buenos Aires, Argentina.

Received: September 19, 2022; Published: October 08, 2022

Abstract

Spinal muscular atrophy type 0 is a genetic condition and is the severest phenotype expression of the five types of SMA. Moreover, it affects patients from birth and is rapidly fatal within days to months. We describe a case of a patient who was born with axial hypotony, abolished of osteotendinous reflexes and Moro’s reflex, and lingual fasciculations but eye opening and movements were present and how we imagined that we were dealing with spinal muscular atrophy type 0 and how we promptly diagnosed this uncommon pathology. In this report we want to highlight the importance of knowing the most relevant characteristics of the disease and being capable of suspecting this condition during pregnancy and after birth. In addition, as physicians we should give proper palliative care and genetic counseling to the family.

Keywords: Neonatal; Hypotonia; Spinal Muscular Atrophy

References

1. Grotto S., et al. "Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients”. Journal of Neuromuscular Diseases 4 (2016): 487-495.
2. Mailman MD., et al. "Molecular Analysis of Spinal Muscular Atrophy and Modification of the Phenotype by Smn2”. Genetics in Medicine 1 (2002): 20-26.
3. Matesanz SE., et al. "Clinical Course in a Patient with Spinal Muscular Atrophy Type 0 Treated with Nusinersen and Onasemnogene Abeparvovec”. Journal of Child Neurology 11 (2020): 717-723.
4. Burglen L., et al. "Survival Motor Neuron Gene Deletion in the Arthrogryposis Multiplex Congenita-Spinal Muscular Atrophy Association”. Journal of Clinical Investigation 5 (1996): 1130-1132.
5. Devriendt K., et al. "Clinical and Molecular Genetic Features of Congenital Spinal Muscular Atrophy”. Annals of Neurology 5 (1996): 731-738.
6. Mulleners WM., et al. "Spinal Muscular Atrophy Combined with Congenital Heart Disease: A Report of Two Cases”. Neuropediatrics6 (1996): 333-334.
7. Bingham PM., et al. "Arthrogryposis Due to Infantile Neuronal Degeneration Associated with Deletion of the Smnt Gene”. Neurology3 (1997): 848-851.
8. Korinthenberg R., et al. "Congenital Axonal Neuropathy Caused by Deletions in the Spinal Muscular Atrophy Region”. Annals of Neurology 3 (1997): 364-368.
9. Rijhsinghani A., et al. "Sonographic and Maternal Serum Screening Abnormalities in Fetuses Affected by Spinal Muscular Atrophy”. Prenatal Diagnosis 2 (1997): 166-169.
10. Jong Y., et al. “Large-Scale Deletions in a Chinese Infant Associated with a Variant Form of Werdnig-Hoffmann Disease”. Neurology3 (1998): 878-879.
11. Kuo AA., et al. "Electrical Inexcitability of Nerves and Muscles in Severe Infantile Spinal Muscular Atrophy”. Journal of Neurology, Neurosurgery and Psychiatry 1 (1999): 122.
12. MacLeod MJ., et al. "Prenatal Onset Spinal Muscular Atrophy”. European Journal of Paediatric Neurology 2 (1999): 65-72.
13. Stiller RJ., et al. "The Association of Increased Fetal Nuchal Translucency and Spinal Muscular Atrophy Type I”. Prenatal Diagnosis 6 (1999): 587-589.
14. Hergersberg M., et al. "Deletions in the Spinal Muscular Atrophy Gene Region in a Newborn with Neuropathy and Extreme Generalized Muscular Weakness”. European Journal of Paediatric Neurology 1 (2000): 35-38.
15. El-Matary W., et al. "Spinal Muscle Atrophy Type 1 (Werdnig-Hoffman Disease) with Complex Cardiac Malformation”. European Journal of Pediatrics 6 (2004): 331-332.
16. Garcia-Cabezas MA., et al. "Neonatal Spinal Muscular Atrophy with Multiple Contractures, Bone Fractures, Respiratory Insufficiency and 5q13 Deletion”. Acta Neuropathologica 5 (2004): 475-478.
17. Nadeau A., et al. "A Newborn with Spinal Muscular Atrophy Type 0 Presenting with a Clinicopathological Picture Suggestive of Myotubular Myopathy”. Journal of Child Neurology 11 (2007): 1301-1304.
18. Vaidla E., et al. "Neonatal Spinal Muscular Atrophy Type 1 with Bone Fractures and Heart Defect”. Journal of Child Neurology 1 (2007): 67-70.
19. Menke LA., et al. "Congenital Heart Defects in Spinal Muscular Atrophy Type I: A Clinical Report of Two Siblings and a Review of the Literature”. American Journal of Medical Genetics Part A 6 (2008): 740-744.
20. Rudnik-Schoneborn S., et al. "Congenital Heart Disease Is a Feature of Severe Infantile Spinal Muscular Atrophy”. Journal of Medical Genetics 10 (2008): 635-638.
21. Araujo APM., et al. "Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy”. The Journal of Pediatrics 2 (2009): 292-294.
22. Rudnik-Schoneborn S., et al. "Genotype-Phenotype Studies in Infantile Spinal Muscular Atrophy (SMA) Type I in Germany: Implications for Clinical Trials and Genetic Counseling”. Clinical Genetics 2 (2009): 168-178.
23. Rudnik-Schoneborn S., et al. “Digital Necroses and Vascular Thrombosis in Severe Spinal Muscular Atrophy”. Muscle Nerve1 (2010): 144-147.
24. Parra J., et al. "Ultrasound Evaluation of Fetal Movements in Pregnancies at Risk for Severe Spinal Muscular Atrophy”. Neuromuscular Disorders 2 (2011): 97-101.
25. Gathwala G., et al. "Very Severe Spinal Muscular Atrophy: Type 0 with Dandy-Walker Variant”. Journal of Pediatric Neurosciences 1 (2014): 55-56.
26. Khera S and R Ghuliani. "Type O Spinal Muscular Atrophy with Multisystem Involvement”. Indian Pediatrics 11 (2014): 923-924.

Citation

Citation: Pestana Magali Andrea., et al. “Neonatal Spinal Muscular Atrophy: A Case Report". Acta Scientific Paediatrics 5.11 (2022): 03-06.

Copyright

Copyright: © 2022 Pestana Magali Andrea., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.