# Neonatal spinal muscular atrophy with brain magnetic resonance imaging hypersignal: a case report

## TL;DR

This case report describes a neonate with spinal muscular atrophy who showed brain MRI changes, aiming to improve early diagnosis and understanding of the condition.

## Contribution

The study contributes a rare case of neonatal SMA with early brain MRI hypersignal and a literature review on brain changes in SMA.

## Key findings

- A neonate with limb hypotonia showed abnormal brain MRI signals confirmed by genetic testing.
- Early brain MRI changes in SMA may be detectable and could aid in early diagnosis.
- Literature review suggests possible mechanisms for brain MRI signal changes in SMA patients.

## Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder marked by progressive, symmetrical muscle weakness and atrophy. 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.