Background: Children with Hunter syndrome have a high prevalence of nerve compression syndromes given the buildup of glycosaminoglycans in the tendon sheaths and soft tissue structures. These are often comorbid with orthopedic conditions given joint and tendon contractures due to the same pathology. While carpal tunnel syndrome and surgical treatment has been well-reported in this population, the literature on lower extremity nerve compression syndromes and their treatment in Hunter syndrome is sparse.
Observations: We report the case of a 13-year-old male with a history of Hunter syndrome who presented with toe-walking and tenderness over the peroneal and tarsal tunnel areas. He underwent bilateral common peroneal nerve and tarsal tunnel releases, with findings of severe nerve compression and hypertrophied soft tissue structures demonstrating fibromuscular scarring on pathology. Post-operatively, the patient's family reported subjective improvement in lower extremity mobility and plantar flexion.
Lessons: In this case, peroneal and tarsal nerve compression were diagnosed clinically and treated effectively with surgical release and postoperative ankle casting. Given the wide differential of common comorbid orthopedic conditions in Hunter syndrome and the lack of validated electrodiagnostic normative values in this population, the history and physical examination and consideration of nerve compression syndromes are tantamount for successful workup and treatment of gait abnormalities in the child with Hunter syndrome.
Download full-text PDF |
Source |
---|
Sci Adv
December 2024
Laboratory of Cell Cycle Regulation, Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad 500039, India.
Dysfunction of the centrosome, the major microtubule-organizing center of the cell, is implicated in microcephaly. Haploinsufficiency of mixed-lineage leukemia (MLL/KMT2A) protein causes Wiedemann-Steiner syndrome (WSS), a neurodevelopmental disorder associated with microcephaly. However, whether MLL has a function at the centrosome is not clear.
View Article and Find Full Text PDFMed Sci Sports Exerc
December 2024
Griffith Centre of Biomedical and Rehabilitation Engineering (GCORE), Griffith University, Gold Coast, AUSTRALIA.
Introduction: We compared the 12-months effects of arthroscopic surgery and physiotherapist-led care for femoroacetabular impingement (FAI) syndrome on the time-varying magnitude of hip contact force and muscle contributions to hip contact force during walking.
Methods: Secondary analysis was performed on thirty-seven individuals with FAI syndrome who received biomechanical assessment before and 12-months following either arthroscopic surgery (n = 17) or physiotherapist-led care (Personalised Hip Therapy, PHT) (n = 20). At both time points, three-dimensional whole-body motions, ground reaction forces, and surface electromyograms (n = 14) were acquired during overground walking.
Cureus
November 2024
Neurology, Toho University Faculty of Medicine, Tokyo, JPN.
An 80-year-old man was admitted to our hospital with acute cerebellar infarction. Conventional magnetic resonance angiography and computed tomography angiography (CTA) showed occlusion of the right vertebral artery (VA). Carotid ultrasonography revealed that the right VA was narrowed at its entry point into the transverse foramen near C6.
View Article and Find Full Text PDFAndrology
December 2024
Centre d'épidémiologie et de recherche en santé des populations (CERPOP), Université Toulouse III Paul-Sabatier, Toulouse, France.
Congenital absence of the vas deferens (CAVD) is a syndrome with a heterogeneous presentation: bilateral (CBAVD) or unilateral (CUAVD), complete or partial and associated or not with other anomalies of the male urogenital system. A turning point came in 1968 when CBAVD was associated with cystic fibrosis and its CFTR gene mutations. Genetic studies then revealed that a minority of CBAVD but a majority of CUAVD are CFTR-independent.
View Article and Find Full Text PDFMol Genet Metab
November 2024
Departments of Chemistry, University of Washington, Seattle, WA 98195, USA. Electronic address:
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!