CASE REPORT article
Front. Pediatr.
Sec. Neonatology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1508565
This article is part of the Research TopicCurrent Trends in Muscle Diseases and Their Treatment StrategiesView all 9 articles
Neonatal spinal muscular atrophy with brain magnetic resonance imaging hypersignal : A case report
Provisionally accepted
- 1Southwest Medical University, Luzhou, China
- 2The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China
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Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder marked by progressive, symmetrical muscle weakness and atrophy [1]. While only a limited number of studies on human SMA have demonstrated brain involvement, there are also few reports detailing early brain MRI changes in SMA patients. In this paper, we present the case of a child whose initial symptom was limb hypotonia. The child's brain MRI revealed abnormal signal changes and genetic testing ultimately confirmed the diagnosis of SMA. By reviewing relevant literature, we aim to summarize the brain MRI signal changes observed in SMA patients and explore their possible mechanisms, with the goal of enhancing clinicians' ability to identify and treat neonatal SMA at an early stage. Brain MRI signal changes of SMA are rare, with high mortality and poor prognosis. So far, SMA can only delay the progression of the disease rather than completely cure it [1], which highlights the difficulty and importance of differential diagnosis of this disease. Genetic testing is the key to the diagnosis of SMA, and cranial MRI may be helpful for the diagnosis. Prenatal diagnosis and newborn screening are the most important prevention options, and early identification and treatment can help improve the prognosis of SMA patients.
Keywords: neonatal, Spinal muscular atrophy(SMA), SMN, brain MRI, case report
Received: 09 Oct 2024; Accepted: 17 Apr 2025.
Copyright: © 2025 Jieda, Yang, Wu, Ting, Zhang and Bin. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Dong Wen Bin, The Affiliated Hospital of Southwest Medical University, Luzhou, 646000, Sichuan, China
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