A CASE OF NEONATAL SPINAL MUSCULAR ATROPHY WITH SEPSIS LIKE PRESENTATION

Introduction: Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disease causing degeneration of nerves at anterior horn of spinal cord. The most common and severe form is SMA type 1 which starts before 6 months of age. Patients do not survive more than 2 years and usually die of respirato...

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Autores principales:	Oznur Yilmaz Gondal, Ebru Yalin Imamoglu, Elif Yuksel Karatoprak
Formato:	article
Lenguaje:	EN ID
Publicado:	University of Brawijaya 2021
Materias:	spinal muscular atrophy neonatal sepsis treatment nusinersen Medicine R Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/23d15de9161b48d69ad348bd8c779e54
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spelling	oai:doaj.org-article:23d15de9161b48d69ad348bd8c779e542021-11-24T07:42:53ZA CASE OF NEONATAL SPINAL MUSCULAR ATROPHY WITH SEPSIS LIKE PRESENTATION10.21776/ub.mnj.2021.007.02.112407-67242442-5001https://doaj.org/article/23d15de9161b48d69ad348bd8c779e542021-07-01T00:00:00Zhttps://mnj.ub.ac.id/index.php/mnj/article/view/492https://doaj.org/toc/2407-6724https://doaj.org/toc/2442-5001Introduction: Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disease causing degeneration of nerves at anterior horn of spinal cord. The most common and severe form is SMA type 1 which starts before 6 months of age. Patients do not survive more than 2 years and usually die of respiratory failure. Although there was no specific cure for the disease until the last 3 years, new treatment modalities, with the improving gene-technology have given good results in progression of the disease and early diagnosis and treatment gained importance. Case: A male 28-days-old baby visited our clinic for routine physical examination and was found to be slightly hypotonic. He had decreased strength in sucking and crying and had slowing in motion in the last 4-5 days. C-reactive protein level was slightly elevated. Since he had a sepsis-like presentation, he was referred to neonatal intensive care unit (ICU). He was given antibiotics and monitored. However, in follow-up he became more hypotonic and deep tendon reflexes were lost. He was diagnosed as SMA type I and was referred for nusinersen (antisense-oligonucleotide) treatment. After treatment, he showed a good progress in motor functions and still does not need any respiratory support. Conclusions: We presented this case to draw attention to SMA in differential diagnosis of hypotonic newborns with sepsis-like presentation and emphasize the importance of early diagnosis and treatment.Oznur Yilmaz GondalEbru Yalin ImamogluElif Yuksel KaratoprakUniversity of Brawijayaarticlespinal muscular atrophyneonatal sepsistreatmentnusinersenMedicineRNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENIDMalang Neurology Journal, Vol 7, Iss 2, Pp 136-139 (2021)
institution	DOAJ
collection	DOAJ
language	EN ID
topic	spinal muscular atrophy neonatal sepsis treatment nusinersen Medicine R Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	spinal muscular atrophy neonatal sepsis treatment nusinersen Medicine R Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Oznur Yilmaz Gondal Ebru Yalin Imamoglu Elif Yuksel Karatoprak A CASE OF NEONATAL SPINAL MUSCULAR ATROPHY WITH SEPSIS LIKE PRESENTATION
description	Introduction: Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disease causing degeneration of nerves at anterior horn of spinal cord. The most common and severe form is SMA type 1 which starts before 6 months of age. Patients do not survive more than 2 years and usually die of respiratory failure. Although there was no specific cure for the disease until the last 3 years, new treatment modalities, with the improving gene-technology have given good results in progression of the disease and early diagnosis and treatment gained importance. Case: A male 28-days-old baby visited our clinic for routine physical examination and was found to be slightly hypotonic. He had decreased strength in sucking and crying and had slowing in motion in the last 4-5 days. C-reactive protein level was slightly elevated. Since he had a sepsis-like presentation, he was referred to neonatal intensive care unit (ICU). He was given antibiotics and monitored. However, in follow-up he became more hypotonic and deep tendon reflexes were lost. He was diagnosed as SMA type I and was referred for nusinersen (antisense-oligonucleotide) treatment. After treatment, he showed a good progress in motor functions and still does not need any respiratory support. Conclusions: We presented this case to draw attention to SMA in differential diagnosis of hypotonic newborns with sepsis-like presentation and emphasize the importance of early diagnosis and treatment.
format	article
author	Oznur Yilmaz Gondal Ebru Yalin Imamoglu Elif Yuksel Karatoprak
author_facet	Oznur Yilmaz Gondal Ebru Yalin Imamoglu Elif Yuksel Karatoprak
author_sort	Oznur Yilmaz Gondal
title	A CASE OF NEONATAL SPINAL MUSCULAR ATROPHY WITH SEPSIS LIKE PRESENTATION
title_short	A CASE OF NEONATAL SPINAL MUSCULAR ATROPHY WITH SEPSIS LIKE PRESENTATION
title_full	A CASE OF NEONATAL SPINAL MUSCULAR ATROPHY WITH SEPSIS LIKE PRESENTATION
title_fullStr	A CASE OF NEONATAL SPINAL MUSCULAR ATROPHY WITH SEPSIS LIKE PRESENTATION
title_full_unstemmed	A CASE OF NEONATAL SPINAL MUSCULAR ATROPHY WITH SEPSIS LIKE PRESENTATION
title_sort	case of neonatal spinal muscular atrophy with sepsis like presentation
publisher	University of Brawijaya
publishDate	2021
url	https://doaj.org/article/23d15de9161b48d69ad348bd8c779e54
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A CASE OF NEONATAL SPINAL MUSCULAR ATROPHY WITH SEPSIS LIKE PRESENTATION

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