Ninety-eight percent of skeletally immature patients with spinal cord injury (SCI) suffer from progressive neuromuscular scoliosis (NMS). Operative treatment has typically been limited to posterior spinal fusion (PSF), but a newer technique as described may be less invasive and preserve more function. A PSF of the entire spine to the pelvis is standard of care. However, maintenance of spinal flexibility, motion, and potential growth is desirable. We present a case for proof-of-concept of utilizing a surgical motion-preserving technique to treat progressive NMS in an 11year-old girl with T10 level (AIS B) paraplegia with a progressive 60° NMS of the lumbar spine. She had anterior scoliosis correction (ASC) from T11-L5 without fusion. Over 24 months, the curve growth-modulated to a residual of 12° with continued modulation to 7° at 3-year follow-up (skeletal maturity).
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http://dx.doi.org/10.1310/sci2502-150 | DOI Listing |
BMJ Neurol Open
January 2025
Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Ube, Japan.
Objective: This study investigated the effects of early treatment and pathophysiology on eosinophilic granulomatosis with polyangiitis neuropathy (EGPA-N).
Methods: Twenty-six consecutive patients with EGPA-N were diagnosed and treated within a day of admission and underwent clinical analysis. Peripheral nerve recovery rates were evaluated after early treatment by identifying the damaged peripheral nerve through detailed neurological findings.
J Med Genet
January 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Biallelic pathogenic variants in cause a fatal autosomal recessive multisystem disorder characterized by recurrent autoinflammation, hypomyelination, progressive neurodegeneration, microcephaly, failure to thrive, liver dysfunction, respiratory chain defects and accumulation of glycogen in skeletal muscle. No missense variants in have been reported to date.We report a 6-year-old boy with microcephaly, global developmental delays, lower limb spasticity with hyperreflexia, epilepsy, abnormal brain MRI, failure to thrive, recurrent fevers and transaminitis.
View Article and Find Full Text PDFPediatr Neurol
December 2024
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
Background: Spinocerebellar ataxia with axonal neuropathy 1 (SCAN1) is an ultrarare neurodegenerative disorder inherited in an autosomal recessive manner, mainly marked by progressive ataxia and axonal polyneuropathy. SCAN1 is mainly caused by the c.1478A>G:p.
View Article and Find Full Text PDFHeliyon
January 2025
Institute of Biomedicine of Málaga (IBIMA), 29010, Málaga, Spain.
Background: Chronic kidney disease is a global problem characterized by a progressive decrease in kidney function with associated symptoms. A better understanding of these symptoms could lead to the development of personalized strategies.
Objective: This systematic review aims to describe the clusters of symptoms in kidney failure and categorize them according to their time of onset and how disabling they are for patients.
Front Neurosci
January 2025
Hospital Pediátrico Dr. Hugo Mendoza, Santo Domingo, Dominican Republic.
Spinal muscular atrophy (SMA) is a progressive genetic neuromuscular condition affecting spinal motor neurons. The underlying cause of SMA is deletions or mutations in the SMN gene. It is classified into five variants based on age and clinical manifestations of the patient.
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