kyphoscoliosis

Neurofibromatosis-1 (NF1) presents complex challenges due to its multisystemic effects, including kyphoscoliosis, dural ectasia, and arteriovenous fistulas (AVF). We present a case of a 31-year-old male with NF1 exhibiting severe cervical kyphoscoliosis, dural ectasia, a bisected cervical cord, and an arteriovenous fistula, highlighting the intricacies of managing such intricate cases. Rapid weakening in the patient's right arm and leg prompted imaging revealing severe cervical kyphotic deformity and a dural fold dividing the spinal cord...

Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder of skeletal fragility with an incidence of roughly 1:15,000. Approximately 85% of the pathogenic variants responsible for OI are in the type I collagen genes, COL1A1 and COL1A2, with the remaining pathogenic OI variants spanning at least 20 additional genetic loci that often involve type I collagen post-translational modification, folding, and intracellular transport as well as matrix incorporation and mineralization. In addition to being the most abundant collagen in the body, type I collagen is an important structural and extracellular matrix signaling molecule in multiple organ systems and tissues...

BACKGROUND: Anesthesia for spinal muscular atrophy (SMA) patients undergoing spinal deformity surgery is challenging. We report an unusual case of an SMA girl who developed severe intraoperative hypoxemia and hypotension during posterior spinal fusion related with surgical positioning. CASE PRESENTATION: A 13-yr-old girl diagnosed with SMA type 2, severe kyphoscoliosis and thoracic deformity was scheduled for elective posterior spinal fusion. She developed severe hypoxemia and profound hypotension intraoperatively in the prone position with surgical table tilted 45° to the right...

We herein report a case with a novel homozygous variant in the kyphoscoliosis peptidase (KY) gene. A 58-year-old Japanese female was referred to our hospital with a gait disturbance that gradually worsened after the age of 50. She had bilateral equinus foot deformity since early childhood. Neurological examination revealed moderate weakness of the neck, trunk, femoral, and brachial muscles, mild respiratory failure, and areflexia. Whole-exome sequencing revealed a novel homozygous frameshift variant of the KY gene, NM_178554...

BACKGROUND: Sialidosis is a rare variety of lysosomal storage disease that results in intracellular accumulation of sialic acid containing compounds. The authors report the first case of type II sialidosis, juvenile subtype in a 30-month-old male child from Nepal. CASE PRESENTATION: Progressive hearing loss with coarse facies, hepatomegaly, kyphoscoliosis, dysostosis multiplex were the major features in a 30-month-old child born to healthy non-consanguineous parents...

Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on an 8-year-old boy with motor developmental delay, axial hypotonia, myopathic face, muscle weakness, strabismus, ptosis, pectus carinatum, kyphoscoliosis, joint contractures, joint laxity, seizures, and recurrent nephrolithiasis. He also had feeding difficulties and recurrent aspiration pneumonia...

Congenital scoliosis is one of the most common deformities of the spine in children. Intraspinal anomalies are always accompanied with congenital scoliosis. Diastematomyelia is one of the most common intraspinal pathologies in congenital scoliosis. To date, there is no standard method for correcting the congenital spinal deformity associated with diastematomyelia. We present a clinical case of simultaneous correction of congenital scoliosis by an internal corrector with excision of diastematomyelia. The patient tolerated the surgery well without any complications...

Skeletal dysplasias are a group of genetic conditions defined by atypical bone or cartilage growth and development. Skeletal abnormalities include short stature, limb deformity, joint contracture, and spinal deformity. Over 90% of disorders have a known genetic mutation that can definitively determine the diagnosis. As patients may present with a primary spinal concern, a careful clinical and radiographic evaluation can allow the physician to develop a working diagnosis to guide additional evaluation. Spinal manifestations include scoliosis and kyphoscoliosis, cervical instability, cervical kyphosis, thoracolumbar kyphosis, spinal stenosis, and atypical vertebral body morphology...

BACKGROUND: Ankylosing spondylitis (AS) is an autoimmune spondylarthritis often associated with rigid kyphoscoliosis. The authors describe a surgical approach that employs multilevel three-column osteotomies for the restoration of normal global alignment. OBSERVATIONS: A 48-year-old male with a past medical history of AS presented to the clinic with a stooped-over posture: his chin-brow vertical angle (CBVA) was 58.0°; T1 slope (T1S), 97.8°; thoracic kyphosis (TK; T1-12), 94...

INTRODUCTION: Spinal deformities, including kyphoscoliosis, have been consistently documented in cetaceans. However, the majority of reported cases of kyphoscoliosis in cetaceans pertain to bottlenose dolphins, with limited information on its occurrence in narrow-ridged finless porpoise (NFP) (Neophocaena asiaeorientalis). MATERIALS AND METHODS: In November 2021, two deceased NFPs were discovered stranded on the shores of the Republic of Korea. As part of the pioneer stranded cetacean imaging programme in the Republic of Korea, both carcasses underwent post-mortem computed tomography (PMCT), revealing congenital and degenerative traumatic kyphoscoliosis, respectively...

INTRODUCTION: Kyphoscoliosis is present in up to 2% of the juvenile population and can have deleterious effects on respiratory mechanics, leading to chronic respiratory failure later on in adult life. CASE PRESENTATION: Hereby we describe a 53-year-old patient with severe uncontrolled asthma who presented with chronic hypercapnic respiratory failure. During her medical workup, she was noted to have several comorbidities leading to her respiratory failure. The patient had radiological evidence of bronchiectasis with recurrent episodes of infection, and a severe deformity of the spine due to Kyphoscoliosis...

OBJECTIVE: This case report aims to present a rare case of thoracic lordosis and lumbar kyphosis and describe the posterior instrumented scoliosis correction performed. CASE PRESENTATION: A 59-year-old female presented with low back pain. She had undergone ventriculoperitoneal shunt placement 8 years ago. I scored 76 on the Wechsler Adult Intelligence Scale. MRI of the lumbar spine showed spinal canal stenosis at L3/4, L4/5, and L5/S1. Full spine X-ray revealed thoracic lordosis and lumbar kyphoscoliosis， the coronal imbalance, and the sagittal compensatory balance...

This technique is a modification of the posterior vertebral column resection (PVCR) for patients with kyphoscoliosis with vertebral column resection indications (Cobb angle >100° angular and rigid with flexibility <20%-30%). The neural arch (preservation)-PVCR has the biomechanical advantage of maintaining the dural sac and the spinal cord attached within the neural arch and ligamentum flavum (dorsal meningovertebral ligaments are in tension in kyphosis), avoiding spinal cord deviation during the vertebrectomy...

Background Lumbar puncture, a common diagnostic and therapeutic procedure, is performed regardless of individual spinal alignment variations. However, the impact of kyphosis, scoliosis, and kyphoscoliosis on spinal cord termination level and lumbar puncture safety remains unclear. Objectives This study aimed to determine if the termination level of the spinal cord is different in individuals with spinal deformities and to assess the necessity of routine neuroimaging for safe lumbar puncture localization...

Dyspnea has been reported to occur following posterior occipitocervical fusion. However, there are no documented cases of dyspnea following posterior fixation of the middle and lower cervical spine without posterior occipitocervical fusion. An 80-year-old woman underwent corrective fusion from T4 to the ilium for kyphoscoliosis. Sixteen months later, the patient developed cervical kyphosis (dropped head syndrome) with proximal junctional kyphosis, leading to a pedicle subtraction osteotomy at T4 and an extended fixation to C2...

Phenotypic features of a hereditary connective tissue disorder, including craniofacial characteristics, hyperextensible skin, joint laxity, kyphoscoliosis, arachnodactyly, inguinal hernia, and diverticulosis associated with biallelic pathogenic variants in EFEMP1 have been previously described in four patients. Genome sequencing on a proband and her mother with comparable phenotypic features revealed that both patients were heterozygous for a stop-gain variant c.1084C>T (p.Arg362*). Complementary RNA-seq on fibroblasts revealed significantly reduced levels of mutant EFEMP1 transcript...

No abstract text is available yet for this article.

Congenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome. Genetic analysis revealed c.3207_3217+9del in a heterozygote form of the fibrillin-2 (FBN2) gene. This patient was diagnosed with CCA based on his phenotype, and the pathogenicity of this variant was classified according to cDNA analysis and protein modeling.

Quadratus lumborum block (QLB) has been described as a regional analgesic technique in various abdominal surgeries. We present a case report of a high-risk patient who underwent ovarian cystectomy with QLB and deep sedation after failed neuraxial anesthesia. A 29-year-old female patient with comorbidities osteogenesis imperfecta, severe kyphoscoliosis with restrictive lung disease, and cervical syringomyelia with cranio-cervical junction stenosis (C2/C3). The patient had large ovarian cysts with associated dyspnea...

BACKGROUND: Scoliosis associated with tethered cord syndrome is one of the most challenging spinal deformities to manage. Multiple surgical approaches have been developed, including traditional staged and concomitant procedures, spine-shortening osteotomies, and individual vertebral column resections. OBSERVATIONS: A 10-year-old female presented with congenital kyphoscoliosis with worsening curve progression, tethered spinal cord, and a history of enuresis. The scoliosis had progressed to a 26° coronal curve and 55° thoracolumbar kyphosis...