Cobb syndrome is a rare neurocutaneous disease characterized by multiple spinal vascular anomalies and vascular skin lesions affecting the corresponding dermatome. We present a case of a 12-year-old boy with history of spinal arteriovenous malformation (AVM) extending from T4-T5 status post partial embolization 3 years ago and hyperpigmented patch overlying his thoracic back region presenting with 2 days of back pain and lower extremity numbness and weakness. He had multiple Type III AVMs within the spinal and paraspinal tissues involving the T4-T7 vertebral elements, most extensively T4 and T5. The largest aneurysm located at the confluence of the main AVM nidus was a 4 mm anterior spinal artery aneurysm, which was embolized with partial embolization of the main AVM nidus, resulting in complete aneurysm occlusion. This report provides valuable insight on the natural history, recurrence risk, and treatment options of Cobb syndrome to aid in early diagnosis and improve outcomes.
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http://dx.doi.org/10.1177/2329048X231225305 | DOI Listing |
J Clin Med
December 2024
Spine Surgery Unit, IRCSS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Severe early-onset scoliosis (EOS) can be addressed by different growth-friendly approaches, although the indications of each technique remain controversial. The aim of this study was to compare, in a large series of patients, the potential and limitations of the different distraction-based surgical techniques to establish the most suitable surgical approach to treat EOS. We conducted a retrospective observational cohort study evaluating 62 EOS cases treated between January 2002 and December 2021 with a traditional growing rod (TGR), a magnetically controlled growing rod (MCGR) and vertical expandable prosthesis titanium ribs (VEPTR) at IRCSS Istituto Ortopedico Rizzoli, Bologna, Italy.
View Article and Find Full Text PDFJ Genomics
January 2025
Natural Wellness & Pain Relief Center, Grand Blanc, MI, USA.
Genetic variants encoding both low COMT and MTHFR activity are associated with idiopathic scoliosis. The combined impact of and on progression of adolescent idiopathic scoliosis (AIS) is unknown. This study investigated if and low activity variants are associated with AIS progression.
View Article and Find Full Text PDFEur J Transl Myol
December 2024
Department of Neurosciences, Section of Rehabilitation, University of Padova, Padova, Italy; Orthopedic Rehabilitation Unit, Padova University Hospital, Padova.
Scoliosis is a three-dimensional spinal deformity characterized by a lateral deviation of at least 10° Cobb, categorized into idiopathic and non-idiopathic forms, caused by identifiable factors like congenital abnormalities, neuromuscular conditions, or genetic syndromes. This case report discusses a 15-year-old girl with growth delay and growth hormone (GH) deficiency who experienced rapid scoliosis progression. Initial evaluations were normal, and electroencephalography (EEG) showed nonspecific alterations, but further assessment revealed a MYH3 gene variant associated with scoliosis, short stature, and distinct facial features.
View Article and Find Full Text PDFNat Rev Dis Primers
November 2024
Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects predominantly females. In most cases, RTT is associated with pathogenic variants in MECP2. MeCP2, the protein product of MECP2, is known to regulate gene expression and is highly expressed in the brain.
View Article and Find Full Text PDFSpine (Phila Pa 1976)
November 2024
Cohen Children's Medical Center, Department of Pediatric Orthopaedics, New Hyde Park, NY.
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