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One is not like the other: health quality of life scores vary in neuromuscular EOS by diagnosis.
Spine Deform
January 2025
Department of Orthopaedic Surgery, Scottish Rite Hospital for Children, Dallas, TX, USA.
Purpose: The etiology of early-onset scoliosis (EOS) has been shown to significantly influence baseline parent-reported health-related quality of life (HrQOL). In combining these etiology groups, we obligatorily lump together many disparate diagnoses, particularly true in the neuromuscular (NM) cohort. We sought to evaluate the influence of underlying neuromuscular diagnosis on the HrQOL at 5 years following surgery for EOS.
View Article and Find Full Text PDFRadiometric and Morphologic Analysis of Arnold Chiari Type-I Malformation and Idiopathic Syringomyelia: A Case Series from Pakistan.
Pak J Med Sci
December 2024
Dr Mahwish Shoaib, FCPS Radiology. Assistant Professor, Department of Diagnostic Radiology, Punjab Institute of Neurosciences, Lahore, Pakistan.
Background And Objective: Chiari I Malformation-associated syringomyelia (CM) and idiopathic syringomyelia (IS) are often confused together. They require different diagnostic approach and treatment modalities; it is important to distinguish between the two. We aimed to evaluate the radiological and morphologic characteristics of CM and IS in adult and pediatric patients in Pakistani population.
View Article and Find Full Text PDFA patient with a PTPN11 gene variant complicated with Chiari I malformation and syringomyelia and a review of literatures.
Int J Dev Neurosci
February 2025
Department of Pediatric Neurology, The Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.
Article Synopsis
- PTPN11 gene variants are linked to around 50% of Noonan syndrome and 85% of Leopard syndrome cases, with some patients showing associations with Chiari I malformation (CIM) and syringomyelia, though the nature of this relationship is debated.
- A clinical case was analyzed along with a genetic test on the patient and her family, revealing a specific PTPN11 variant (c. 922A>G) and leading to discussions about the possible connections between these conditions.
- The retrospective review identified six patients with NS or LS and a PTPN11 variant who also exhibited CIM or syringomyelia, highlighting a potential pattern that warrants further investigation.
Spinal cord-spinal canal disproportion following treatment for syringomyelia associated with Chiari malformation type I: illustrative case.
J Neurosurg Case Lessons
December 2024
Department of Neurological Surgery, Virginia Commonwealth University, Richmond, Virginia.
Article Synopsis
- * After successful surgery to relieve pressure, the patient underwent treatment for SAH and showed significant improvement, with his symptoms resolving and no further complications over four years.
- * The report is significant as it presents the first known case of this type of hemorrhage following the surgery and suggests a potential relationship between syringomyelia and the diameter of the spinal canal.
Utilization of Vestibular Information for Balance Control in Children with Chiari I Malformation.
Audiol Res
October 2024
Department of Paediatric Neurosurgery, University Hospital of Nancy, 54011 Vandoeuvre-lès-Nancy, France.
(1) Background: Surgery for Chiari I malformation (CMI) is indicated when typical clinic-radiological features (syringomyelia, exertional headaches, sleep apnea syndrome, and tetraparesis) are present. Sometimes, patients have atypical complaints suggestive of otolaryngological (ENT) involvement, and it is sometimes difficult for the neurosurgeon to determine if these complaints are related to the CMI. Our aim was to describe postural control patterns in children with CMI using computerized dynamic posturography.
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