Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II
| Autor: | Garrett Smith, John T. Sladky, Stephanie Bell, Mehmet S. Albayram, Peter B. Kang |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Male
Weakness Pathology medicine.medical_specialty SMN1 Spinal Muscular Atrophies of Childhood 030218 nuclear medicine & medical imaging Muscular Atrophy Spinal 03 medical and health sciences 0302 clinical medicine Atrophy Anterior Horn Cell medicine Humans Radiology Nuclear Medicine and imaging business.industry Lumbosacral Region Infant Spinal muscular atrophy medicine.disease Spinal muscular atrophies Magnetic Resonance Imaging Survival of Motor Neuron 1 Protein Hypotonia Spine 030220 oncology & carcinogenesis medicine.symptom business Spinal Nerve Roots Lumbosacral joint |
| Zdroj: | Clinical imaging. 53 |
| ISSN: | 1873-4499 |
| Popis: | Spinal muscular atrophies are rare genetic disorders most often caused by homozygous deletion mutations in SMN1 that lead to progressive neurodegeneration of anterior horn cells. Ventral spinal root atrophy is a consistent pathological finding in post-mortem examinations of patients who suffered from various subtypes of spinal muscular atrophy; however, corresponding radiographic findings have not been previously reported. We present a patient with hypotonia and weakness who was found to have ventral spinal root atrophy in the lumbosacral region on MRI and was subsequently diagnosed with spinal muscular atrophy. More systematic analyses of imaging studies in spinal muscular atrophy will help determine whether such findings have the potential to serve as reliable diagnostic markers for clinical evaluations or as outcome measure for clinical trials. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect