kyphoscoliosis

Anencephaly, a severe neural tube defect characterized by the absence of major parts of the brain and skull, is a rare congenital disorder that has been observed in various species, including cats. Considering the uncommon appearance of anencephaly, this paper aims to present anencephaly in a stillborn male kitten from an accidental inbreeding using various paraclinical methods. Histological examination of tissue samples from the cranial region, where parts of the skull were absent, revealed the presence of atypical nerve tissue with neurons and glial cells organized in clusters, surrounded by an extracellular matrix and with an abundance of blood vessels, which are large, dilated, and filled with blood, not characteristic of nerve tissue structure...

Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease that is often associated with chronic respiratory failure. Few cases have described the antepartum and postpartum course in patients with severely compromised respiratory status. We present a case of a 24-year-old nullipara with a history of SMA type II complicated by surgically corrected kyphoscoliosis and severe restrictive lung disease. Her pregnancy was complicated by progressively worsening dyspnea resulting in increased use of noninvasive positive pressure ventilation, ultimately leading to indicated premature delivery at 28 weeks' gestation via cesarean section under general anesthesia...

BACKGROUND: Severe ankylosing spondylitis (AS) frequently involves hip joints and, occasionally, presents with concurrent spinal deformities, such as kyphoscoliosis, creating complex challenges for surgical management. CASE PRESENTATION: We present a 26-year-old Persian male with a history of AS and severe kyphoscoliosis, leading to bilateral hip fusion and immobility. Following spinal deformity correction, a one-stage bilateral conversion to total hip arthroplasty (THA) was conducted through the direct anterior approach...

PURPOSE: A PENTEC (Pediatric Normal Tissue Effects in the Clinic) review was performed to estimate the dose-volume effects of radiation therapy on spine deformities and growth impairment for patients who underwent radiation therapy as children. METHODS AND MATERIALS: A systematic literature search was performed to identify published data for spine deformities and growth stunting. Data were extracted from 12 reports of children irradiated to the spine (N = 603 patients)...

Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by arachnodactyly, multiple joint contractures, progressive kyphoscoliosis, pectus deformity and abnormal crumpled ears. FBN2 is the only gene currently known to be associated with CCA. In this study, we report on a prenatal case presented with skeletal, cardiac and spinal malformations. And his father had elongated limbs, contractures of the proximal interphalangeal joints, high myopia and scoliosis. We conducted whole exome sequencing (WES) on the fetus-parental trio and a heterozygous variant (hg19 chr5:127,673,685, c...

PURPOSE: Spinal deformities in patients with Spondyloepiphyseal Dysplasia congenita are particularly challenging to treat. Addressing these deformities requires a holistic surgical strategy. The aim of this case report is to highlight an original preoperative protocol combining atlantoaxial instability stabilization by halo jacket with progressive correction of a thoracic kyphoscoliosis using continuous elongation by tension plaster cast as described by Stagnara. METHOD: A 16-year-old patient with spondyloepiphyseal dysplasia congenita presenting a severe thoracic kyphoscoliosis associated with atlantoaxial instability causing cervical myelopathy was managed through a preoperative protocol combining a halo jacket with a Stagnara elongation cast allowing progressive correction of the kyphoscoliosis while stabilizing the cervical instability...

BACKGROUND: SH3TC2 variations lead to demyelinating recessive Charcot-Marie-Tooth (CMT) disease, which is commonly associated with early-onset scoliosis and cranial neuropathy. Data from Indian ethnicity is limited. OBJECTIVE: We aim to report the characteristics of patients with SH3TC2-associated neuropathy from an Indian cohort. PATIENTS AND METHODS: Data of five unrelated subjects with SH3TC2 variations were analyzed. RESULTS: Clinical features included female predominance (n = 4), early-onset neuropathy (n = 2), pes cavus and hammer toes (n = 4), kyphoscoliosis (n = 1), impaired vision and hearing (n = 1), facial muscle weakness (n = 1), impaired kinaesthetic sense (n = 3), tremor (n = 2), and ataxia (n = 1)...

BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), classically presenting as a triad of early-onset cerebellar ataxia, lower extremity spasticity and peripheral neuropathy, is caused by mutations in SACS gene which encodes the protein sacsin. OBJECTIVE: To provide new insight into the occurrence of SACS mutations in South India. METHODS: Patients with three cardinal features of ARSACS-peripheral neuropathy, cerebellar ataxia, and pyramidal tract signs were included...

BACKGROUND: Vertebral column resection (VCR) is a powerful corrective technique for the management severe, rigid spinal deformities but does carry a relatively high complications rate. One of the feared complications is pseudarthrosis which places the patient at risk for implant failure. We present a single-center experience with post-operative computed tomography (CT) imaging at the osteotomy site to screen for impending pseudarthrosis. METHODS: A retrospective review of a single surgeon series of posterior-only VCR performed for severe pediatric and adolescent spinal deformities was performed...

OBJECTIVE: In patients with adult spinal deformity, especially degenerative lumbar kyphoscoliosis (DLKS), preoperative sagittal malalignment and coronal malalignment (CM) often coexist. Lateral lumbar interbody fusion (LLIF) has recently been widely chosen for DLKS treatment due to its minimal invasiveness and excellent sagittal alignment correction. However, postoperative CM may remain or occur due to an oblique takeoff phenomenon following multilevel LLIF, resulting in poor clinical outcomes...

[This retracts the article DOI: 10.1155/2022/7378403.].

Spondylocarpotarsal synostosis (SCT) syndrome is a very rare and severe form of skeletal dysplasia. The hallmark features of SCT are disproportionate short stature, scoliosis, fusion of carpal and tarsal bones, and clubfoot. Other common manifestations are cleft palate, conductive and sensorineural hearing loss, joint stiffness, and dental enamel hypoplasia. Homozygous variants in FLNB are known to cause SCT. This study was aimed to investigate the phenotypic and genetic basis of unique presentation of SCT syndrome segregating in a consanguineous Pakistani family...

We present a Pakistani kinship afflicted with a syndrome with features including short stature, reduced sitting height, orofacial symptoms including prominent forehead and thick eyebrows, short and broad thorax, and variable features such as long philtrum, short broad neck, barrel chest, thoracic kyphoscoliosis, hypogonadism, and hypospadias. Phenotypic variation even within different sibships was considerable. The unique combination of the phenotypic characteristics prompted us to determine the shared homozygosity regions in patient genomes and the pathogenic variants by next generation technologies like single nucleotide polymorphism (SNP) genotyping and whole exome sequencing (WES)...

BACKGROUND: Underprivileged and underserved patients from developing countries often present late with advanced, untreated spinal deformities. We report a three-stage all-posterior approach using limited skeletal traction with Gardner-Wells tongs (GWTs) for the management of severe idiopathic scoliosis during a humanitarian surgical mission trip. OBSERVATIONS: A 17-year-old high-school female was previously diagnosed with juvenile idiopathic scoliosis (diagnosed at age 8) and progressed to a severe 135° kyphoscoliosis...

OBJECTIVE: Conventional correction techniques were challenging and of high risk of neurological complications for the correction of severe and rigid kyphoscoliosis. A new technical note we developed and named as sequential correction, was used to treat severe and rigid kyphoscoliosis. The present study was to compare the clinical outcomes of sequential correction versus conventional correction for the treatment of severe and rigid kyphoscoliosis. METHODS: This is a respectively case-control study...

Transglutaminase (TG) is a ubiquitous enzyme that crosslinks substrates. In humans, TG participates in blood clotting and wound healing. However, the functions related to the cellular protection of microbial TG are unknown. In filamentous fungi, we previously identified SppB, which contains the transglutaminase core (TGc) domain and functions in hyphal protection at the septal pore upon wounding. Here, we further analyzed the cytokinesis-related protein Cyk3 and peptide N -glycanase Png1, as both contain the TGc domain...

BACKGROUND: The purpose of the present study was to evaluate changes in pulmonary function, caused by preoperative halo-pelvic traction (HPT) for the treatment of extremely severe and rigid kyphoscoliosis, with use of 3-dimensional computed tomography (3D-CT) reconstruction and pulmonary function tests (PFTs). METHODS: Twenty-eight patients with severe and rigid scoliosis (Cobb angle, >100°) underwent preoperative HPT and staged posterior spinal fusion. CT, radiographic assessment, and PFT were performed during pre-traction and post-traction visits...

Snyder-Robinson syndrome (SRS) is a rare genetic disorder characterized by intellectual disability and delayed development beginning early in childhood. It was first described in a single family in 1969 as a sex-linked disorder (Snyder & Robinson, 1969) and has since been only identified in less than 100 individuals worldwide. Inherited in an X-linked recessive pattern, SRS has only been identified in males thus far. Snyder-Robinson syndrome primarily affects the nervous system and skeletal tissues and is caused by loss-of-function mutations in the gene encoding spermine synthase (SMS), a polyamine biosynthesis enzyme...

Patients with myelomeningocele associated with severe kyphoscoliosis usually presented with rigid and angulated gibbus at their back. The condition causes this group of patients to face difficulties in their daily activities, especially in sitting and lying in supine positions. They are also prone to have a pressure sore over the gibbus and encounter the risk of infection. Here the authors would present a case of a four-year-old girl with underlying myelomeningocele who was diagnosed with worsening kyphoscoliosis along her growth...

BACKGROUND: We presented our new technique combining anterior release with allograft insertion and lateral fixation at the concave side of the curve, preserving the hemivertebra and posterior bilateral transpedicular fixation for those cases with congenital kyphoscoliosis (CKS) who were not operated until the late adolescence. We aimed to present the long-term follow-ups of the patients with narrative review of the literature about CKS with hemivertebra. METHODS: Two patients with CKS concomitant with hemivertebra underwent circumferential (anterior-posterior) instrumentation and fusion using a new technique...