Congenital muscular torticollis is a condition in which the sternocleidomastoid muscle is shortened on the involved side, leading to an ipsilateral tilt of the head and a contralateral rotation of the face and chin. Most of these patients present in infancy and are successfully treated with physical therapy. Occasionally, patients present in childhood at which time conservative management is rarely successful. Here we present a child with torticollis who was successfully managed with a unipolar release of the sternocleidomastoid. We then review the epidemiology, proposed etiologies, and various treatment options for torticollis and their rates of success.
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http://dx.doi.org/10.1016/j.ijporl.2012.07.018 | DOI Listing |
Ann Neurol
January 2025
School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.
Unlabelled: Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders.
Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum.
Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families.
Epilepsy Behav Rep
March 2025
Section of Pediatric Neurology, Department of Pediatrics, The University of Chicago, Chicago, IL, United States.
Dynein Cytoplasmic 1 Heavy chain 1 (-related disorders are a spectrum of conditions including neurodevelopmental disorders, congenital brain malformations, and neuromuscular diseases. These clinical features may co-occur, with four main disease entities including epilepsy with developmental epileptic encephalopathy such as infantile epileptic spasms syndrome (IESS) and Lennox-Gastaut syndrome (LGS), axonal Charcot-Marie-Tooth disease type 2O, spinal muscular atrophy with lower extremity-predominance (SMALED), and congenital cortical malformations. Epilepsy associated with this disorder often becomes drug-resistant and requires multiple medications and, in some cases, non-pharmacological treatments.
View Article and Find Full Text PDFCatheter Cardiovasc Interv
January 2025
Department of Pediatric Cardiology, Hotel Dieu de France University Medical Center, Saint Joseph University, Beirut, Lebanon.
Background: Pulmonary artery banding (PAB) palliates pulmonary over-circulation, while endovascular debanding (ED) offers a less invasive alternative to repeat surgery.
Objectives: To evaluate our experience with ED.
Aims: Retrospective review of single-center data (2015-2023) on children with single, multiple, or "Swiss-cheese" muscular ventricular septal defects (MVSDs) undergoing ED.
Pediatr Radiol
January 2025
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpasa Medical Faculty, 34098, Cerrahpasa, Istanbul, Turkey.
Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities.
Objective: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias.
Materials And Methods: Thirteen patients with a mutation in TRPV4 were included in the study, and 11 were followed for a median of 6.
Mol Genet Genomic Med
January 2025
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.
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