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Shilpa D Kulkarni, Meenal Garg, Rafat Sayed
BACKGROUND: Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, cataracts, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy. CASE CHARACTERISTICS: 10-year-old boy presented with progressive ataxia, neuropathy and cataracts. Over 6 years, he developed dementia, kyphoscoliosis with worsening ataxia, and neuropathy. OUTCOME: Sterol analysis and CYP27A1 sequencing confirmed the diagnosis...
October 8, 2016: Indian Pediatrics
Faisal R Jahangiri, Sami Al Eissa, Samir Sayegh, Fahad Al Helal, Shomoukh A Al-Sharif, Monerah M Annaim, Sheryar Muhammad, Tanweer Aziz
A 16-year-old male patient with Ehler-Danlos syndrome (EDS) and a back deformity since birth presented with severe kyphoscoliosis. The patient was neurologically intact but had respiratory and cardiac insufficiencies. A two-stage vertebral column resection (VCR) at T9-T10 with multiple level fusion with multimodality intraoperative neurophysiological monitoring (IONM) was planned.  During the first stage, pedicle screws were placed at multiple spinal levels above and below the VCR level. Upper and lower somatosensory evoked potentials (SSEP), transcranial electrical motor evoked potentials (TCeMEP), and electromyography were monitored continuously and showed no significant changes...
August 31, 2016: Curēus
Shilpa Ajit Joshi, Shalomith Uppapalli, Pranav More, Madan Deshpande
Brittle cornea syndrome is a rare generalised connective tissue disorder with ocular features like keratoglobus or keratoconus, severe corneal thinning and a high risk of perforation. Various authors in different case reports and case series have brought out the fact that brittle cornea is a disorder with characteristic systemic manifestations such as deafness, joint hypermobility, hyperelasticity of skin, kyphoscoliosis and dental abnormalities alongwith ophthalmic features. We report a case of globe perforation following trivial trauma, in an individual with brittle cornea without any extraocular manifestations, posing a challenge in the diagnosis and dilemma in surgical repair of cornea, restoration of globe integrity and visual rehabilitation...
October 7, 2016: BMJ Case Reports
Michael Pickell, Stephen M Mann, Rajesh Chakravertty, Daniel P Borschneck
BACKGROUND: This is a prospective observational study examining the use of a surgeon-driven intraoperative neurophysiologic monitoring system. Intraoperative neurophysiologic monitoring is becoming the standard of care for spinal surgeries with potential post-operative neurologic deficits. This standard applies to both adult and pediatric spinal surgery, but a shortage of appropriately trained and certified technologists and physiologists can compromise monitoring capabilities in some centers...
September 2016: J Spine Surg
George Joseph, Mithun J Varghese, Oommen K George
Balloon mitral valvotomy (BMV) performed by the conventional transfemoral approach can be difficult or even impossible in the presence of structural impediments such as severe kyphoscoliosis, gross cardiac anatomic distortion and inferior vena caval anomalies. A 25-year-old woman with severe thoracolumbar kyphoscoliosis due to poliomyelitis presented with symptomatic rheumatic mitral valve stenosis. After the failure of transfemoral BMV, the procedure was attempted from the right jugular access, using a modified septal puncture technique...
September 2016: Indian Heart Journal
Divanshu Gupta, Alaka Purohit
Osteogenesis imperfecta (OI) is a rare genetically inherited syndrome involving connective tissues, resulting in anatomic and physiologic abnormalities, which results in any form of anesthesia, a challenging task. We hereby report a case of OI type I presented with distinctively blue sclera, hearing loss, kyphoscoliosis, and mild pulmonary restrictive disease who underwent rush nail removal in the femur.
September 2016: Anesthesia, Essays and Researches
Akira Matsumura, Takashi Namikawa, Minori Kato, Tomonori Ozaki, Yusuke Hori, Noriaki Hidaka, Hiroaki Nakamura
The purpose of this study was to assess the clinical results of posterior corrective surgery using a multilevel transforaminal lumbar interbody fusion (TLIF) with a rod rotation (RR) and to evaluate the segmental corrective effect of a TLIF using CT imaging. The medical records of 15 consecutive patients with degenerative lumbar kyphoscoliosis (DLKS) who had undergone posterior spinal corrective surgery using a multilevel TLIF with an RR technique and who had a minimum follow-up of 2 years were retrospectively reviewed...
October 7, 2016: Journal of Neurosurgery. Spine
Tomoyoshi Takayama, Sayaka Yamamura, Takashi Obana, Shuuji Yamasaki, Kazushi Nishio
INTRODUCTION: Kyphoscoliosis, which is a deformity of the spine caused by aging and osteoporosis, results in various surgical difficulties for laparoscopic cholecystectomy (LC) due to low-lying costal arches, such as a small abdominal working space, disturbance of the surgical view and decreased controllability of the surgical instrument. PRESENTATION OF CASE: We herein report the case of a 92-year old woman with severe kyphoscoliosis who was diagnosed with Grade II acute cholecystitis...
September 22, 2016: International Journal of Surgery Case Reports
Nazreen B K Jaman, Abeer Al-Sayegh
Congenital contractural arachnodactyly, commonly known as Beal's syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23. It is an autosomal dominant inherited connective tissue disorder characterised by a Marfan-like body habitus, contractures, abnormally shaped ears and kyphoscoliosis. We report a seven-year-old Omani male who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2014 with seizures. He was noted to have certain distinctive facial features and musculoskeletal manifestations; he was subsequently diagnosed with Beal's syndrome...
August 2016: Sultan Qaboos University Medical Journal
Maximiliano Lopez Silva, Horacio Sanguinetti, Santiago Battiston, Patricio Alvarez, Norberto Bernardo
Patients with severe skeletal deformities are a challenging group to treat. A female, white, 35-year-old presented with right kidney stones located in renal pelvis, lower calyx, and upper ureter. She was affected by severe spinal deformity with restrictive respiratory obstruction, caused by kyphoscoliosis. Percutaneous nephrolithotomy in supine position was performed, achieving complete removal of kidney stones. The treatment of renal stones in this patient was complex, so special attention to respiratory function was mandatory; this was a challenging but feasible situation...
2016: J Endourol Case Rep
Dhanya Lakshmi Narayanan, Gandham SriLakshmi Bhavani, Katta Mohan Girisha, Shubha R Phadke
BACKGROUND: Metatropic dysplasia is a skeletal dysplasia characterized by rhizomelia, severe kyphoscoliosis and a coccygeal tail. CASE CHARACTERISTICS: A 12 day-old male neonate had facial dysmorphism, short limbs and coccygeal tail and showed radiological features of metatropic dysplasia. OBSERVATION: A novel heterozygous variant was observed in TRPV4 gene. MESSAGE: We report a novel mutation in an Indian neonate with metatropic dysplasia...
August 8, 2016: Indian Pediatrics
Yuki Taniguchi, Miwako Takahashi, Ko Matsudaira, Hiroyuki Oka, Toshimitsu Momose
Patients with adult spinal deformity (ASD) are surgically treated for pain relief; however, visualization of the exact origin of the pain with imaging modalities is still challenging. We report the first case of a 60-year-old female patient who presented with painful degenerative kyphoscoliosis and was evaluated with flourine-18-fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography ((18)F-FDG-PET/CT) preoperatively. Because her low back pain was resistant to conservative treatment, she was treated with posterior spinal correction and fusion surgery from Th2 to the ilium...
November 2016: Skeletal Radiology
Vishal Gupta, Himabindu Saginatham, Sudheer Arava, Gomathy Sethuraman
An 8-year-old girl presented to us with skin-coloured to yellowish soft compressible papules, intermixed with hypopigmented and hyperpigmented macules in a Blaschkoid pattern, and 'lobster-claw deformity' affecting her bilateral feet. Additional examination findings included short stature, facial asymmetry, low-set ears, hypodontia, enamel hypoplasia, tonsillar enlargement and spina-bifida occulta at S1-3 vertebral level. A diagnosis of Goltz syndrome was suspected clinically, which was confirmed on skin biopsy...
2016: BMJ Case Reports
V V Novikov, A S Vasyura, M N Lebedeva, M V Mikhaylovskiy, M A Sadovoy
BACKGROUND: Transposition of the spinal cord made it possible to achieve mobilization of the fixed kyphoscoliosis, significantly increase spinal canal volume and improve spinal canal shape. This helped to eliminate spinal cord compression and achieve complete regression of the existing neurological symptoms. METHODS AND RESULTS: We report the clinical case of surgical management of neurologically complicated kyphoscoliotic deformity of the thoracic spine by transposition of the spinal cord and correction using posterior segmental spinal instrumentation...
2016: International Journal of Surgery Case Reports
Carola Hedberg-Oldfors, Niklas Darin, Mia Olsson Engman, Zacharias Orfanos, Christer Thomsen, Peter F M van der Ven, Anders Oldfors
We describe a new early-onset neuromuscular disorder due to a homozygous loss-of-function variant in the kyphoscoliosis peptidase gene (KY). A 7.5-year-old girl with walking difficulties from 2 years of age presented with generalized muscle weakness; mild contractures in the shoulders, hips and feet; cavus feet; and lordosis but no scoliosis. She had previously been operated with Achilles tendon elongation. Whole-body MRI showed atrophy and fatty infiltration in the calf muscles. Biopsy of the vastus lateralis muscle showed variability in fiber size, with some internalized nuclei and numerous very small fibers with variable expression of developmental myosin heavy chain isoforms...
August 3, 2016: European Journal of Human Genetics: EJHG
Leilane Larissa Albuquerque do Nascimento, Monica da Consolação Canuto Salgueiro, Mariana Quintela, Victor Perez Teixeira, Ana Carolina Costa Mota, Camila Haddad Leal de Godoy, Sandra Kalil Bussadori
Background. Melnick-Needles Syndrome is rare congenital hereditary skeletal dysplasia caused by mutations in the FLNA gene, which codifies the protein filamin A. This condition leads to serious skeletal abnormalities, including the stomatognathic region. Case Presentation. This paper describes the case of a 13-year-old girl diagnosed with Melnick-Needles Syndrome presenting with different forms of skeletal dysplasia, such as cranial hyperostosis, short upper limbs, bowed long bones, metaphyseal thickening, genu valgum (knock-knee), shortened distal phalanges, narrow pelvis and shoulders, rib tapering and irregularities, elongation of the vertebrae, kyphoscoliosis, micrognathia, hypoplastic coronoid processes of the mandible, left stylohyoid ligament suggesting ossification, and dental development anomalies...
2016: Case Reports in Dentistry
George I Mataliotakis, Nikolaos Bounakis, Enrique Garrido-Stratenwerth
There is still no consensus on the management of severe intracanal RH dislocation in neurofibromatosis type 1 dystrophic kyphoscoliosis. This study notes the early cord function impairment signs, reports a serious complication in a susceptible cord, identifies possible mechanisms of injury, and discusses the management of intracanal RH dislocation presented in the literature. First report is as follows: a 12-year-old female with cord compromise and preoperative neurology that underwent thoracotomy and anterior release...
2016: Case Reports in Orthopedics
So Kato, Stephen J Lewis
STUDY DESIGN: Case report. OBJECTIVE: To describe a technique of temporary distal fixation to the ilium to salvage an acute L4 fracture following a T3-L4 kyphoscoliosis correction. SUMMARY OF BACKGROUND DATA: Pedicle fracture is a possible complication in pedicle screw fixation for scoliosis, which may lead to post-operative instability, resulting in loss of fixation and pseudoarthrosis. This report highlights the salvage treatment of a chance fracture that occurred in the lower instrumented vertebra following deformity correction for adolescent idiopathic scoliosis (AIS) without sacrificing further distal motion segments...
July 7, 2016: Spine
Seyed Mohammad Seyedhassani, Feyzollah Hashemi-Gorji, Mahdieh Yavari, Fahimeh Harazi, Vahid Reza Yassaee
Osteogenesis imperfecta (OI) is a set of clinically and genetically heterogeneous disorders with autosomal dominant, recessive and X-linked inheritance patterns. The aim of this study was to describe a novel genetic abnormality in a case of OI type XI with mild joint contractures, kyphoscoliosis, muscular atrophy, progressively deforming and multiple bone fractures in a consanguineous Iranian family. Based on the phenotype, investigation of two candidate genes, CRTAP (OI type VII) and FKBP10 (OI type XI) detected a novel homozygous frameshift mutation in the FKBP10 gene...
June 30, 2016: Fetal and Pediatric Pathology
Maria Rita Araújo, Céline Marques, Sara Freitas, Rita Santa-Bárbara, Joana Alves, Célia Xavier
BACKGROUND: Marfan's Syndrome (MFS) is a disorder of connective tissue, mainly involving the cardiovascular, musculoskeletal, and ocular systems. The most severe problems include aortic root dilatation and dissection. Anesthetic management is vital for the improvement on perioperative morbidity. CASE REPORT: 61-year-old male with MFS, presenting mainly with pectus carinatum, scoliosis, ectopia lens, previous spontaneous pneumothorax and aortal aneurysm and dissection submitted to thoracoabdominal aortic prosthesis placement...
July 2016: Brazilian Journal of Anesthesiology
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