Harlequin syndrome is a rare combination of symptoms, characterized by unilateral facial anhidrosis and paleness on the affected side, becoming obvious by contralateral flushing mainly during sports activity. The syndrome is mostly idiopathic, however it is also described as a complication of thoracic surgery, i.e. superior lobectomy. Here, we report on two cases of Harlequin syndrome following scoliosis surgery at the cervicothoracic junction.
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http://dx.doi.org/10.1007/s00132-019-03813-7 | DOI Listing |
Mol Biol Rep
January 2025
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square House, London, WC1N 3BG, UK.
Background: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive disorder caused by impaired sterol biosynthesis due to nonmosaic hypomorphic EBP variants. MEND syndrome is characterized by variable clinical manifestations including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
Rett syndrome (RS) is a rare neurodevelopmental disorder primarily caused by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene, responsible for encoding MECP2 which plays a pivotal role in regulating gene expression. The neurological and non-neurological manifestations of RS vary widely in severity depending on the specific mutation type. Bone complications, mostly scoliosis but also osteoporosis, hip displacement, and a high rate of fractures, are among the most prevalent non-neurological comorbidities observed in girls with RS.
View Article and Find Full Text PDFCureus
January 2025
Department of Orthopaedic Surgery, Fukushima Medical University School of Medicine, Fukushima, JPN.
Purpose: Worsening sagittal alignment of the spine, particularly kyphosis, may cause difficulty in assuming a supine position, restricting sleeping posture and movement and potentially leading to sleep disturbances. However, no studies have explored the relationship between sagittal spinal alignment and sleep disturbance. This study aimed to clarify the relationship between sagittal spinal alignment and sleep disturbance.
View Article and Find Full Text PDFJ Pediatr Orthop
December 2024
Department of Orthopaedic Surgery, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI.
Background: Prune belly syndrome (PBS) is a rare condition characterized by absence of abdominal musculature, cryptorchidism, and obstructive uropathy. The most common orthopaedic problem is scoliosis, yet no reports on growth-friendly surgical treatment of early-onset scoliosis (EOS) exist. Our purpose was to evaluate outcomes of distraction-based implants in children with PBS.
View Article and Find Full Text PDFWorld Neurosurg
December 2024
Spine surgery, Peking University People's Hospital.
Background: Growing rods is a distraction-based, growth-friendly method that is commonly used in the treatment of scoliosis.
Methods: Studies on growing rods in scoliosis published from 2003 to 2024 were retrieved from the Web of Science Core Collection (WoSCC). VOSviewer, Microsoft Excel and CiteSpace were applied for data analysis.
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