Differential Diagnosis Functional Vs Structural Scoliosis
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Spinal Deformity Study Group
Spinal Deformity Study Group Editors in Chief Radiographic Michael F. O’Brien, MD Timothy R. Kuklo, MD Kathy M. Blanke, RN Measurement Lawrence G. Lenke, MD Manual B T2 T5 T2–T12 CSVL T5–T12 +X° -X +X° C7PL T12 L2 A S1 ©2008 Medtronic Sofamor Danek USA, Inc. – 0 + Radiographic Measurement Manual Editors in Chief Michael F. O’Brien, MD Timothy R. Kuklo, MD Kathy M. Blanke, RN Lawrence G. Lenke, MD Section Editors Keith H. Bridwell, MD Kathy M. Blanke, RN Christopher L. Hamill, MD William C. Horton, MD Timothy R. Kuklo, MD Hubert B. Labelle, MD Lawrence G. Lenke, MD Michael F. O’Brien, MD David W. Polly Jr, MD B. Stephens Richards III, MD Pierre Roussouly, MD James O. Sanders, MD ©2008 Medtronic Sofamor Danek USA, Inc. Acknowledgements Radiographic Measurement Manual The radiographic measurement manual has been developed to present standardized techniques for radiographic measurement. In addition, this manual will serve as a complimentary guide for the Spinal Deformity Study Group’s radiographic measurement software. Special thanks to the following members of the Spinal Deformity Study Group in the development of this manual. Sigurd Berven, MD Hubert B. Labelle, MD Randal Betz, MD Lawrence G. Lenke, MD Fabien D. Bitan, MD Thomas G. Lowe, MD John T. Braun, MD John P. Lubicky, MD Keith H. Bridwell, MD Steven M. Mardjetko, MD Courtney W. Brown, MD Richard E. McCarthy, MD Daniel H. Chopin, MD Andrew A. Merola, MD Edgar G. Dawson, MD Michael Neuwirth, MD Christopher DeWald, MD Peter O. Newton, MD Mohammad Diab, MD Michael F. -
Lordosis, Kyphosis, and Scoliosis
SPINAL CURVATURES: LORDOSIS, KYPHOSIS, AND SCOLIOSIS The human spine normally curves to aid in stability or balance and to assist in absorbing shock during movement. These gentle curves can be seen from the side or lateral view of the spine. When viewed from the back, the spine should run straight down the middle of the back. When there are abnormalities or changes in the natural spinal curvature, these abnormalities are named with the following conditions and include the following symptoms. LORDOSIS Some lordosis is normal in the lower portion or, lumbar section, of the human spine. A decreased or exaggerated amount of lordosis that is causing spinal instability is a condition that may affect some patients. Symptoms of Lordosis include: ● Appearance of sway back where the lower back region has a pronounced curve and looks hollow with a pronounced buttock area ● Difficulty with movement in certain directions ● Low back pain KYPHOSIS This condition is diagnosed when the patient has a rounded upper back and the spine is bent over or curved more than 50 degrees. Symptoms of Kyphosis include: ● Curved or hunched upper back ● Patient’s head that leans forward ● May have upper back pain ● Experiences upper back discomfort after movement or exercise SCOLIOSIS The most common of the three curvatures. This condition is diagnosed when the spine looks like a “s” or “c” from the back. The spine is not straight up and down but has a curve or two running side-to-side. Sagittal Balance Definition • Sagittal= front-to-back direction (sagittal plane) • Imbalance= Lack of harmony or balance Etiology • Excessive lordosis (backwards lean) or kyphosis (forward lean) • Traumatic injury • Previous spinal fusion that disrupted sagittal balance Effects • Low back pain • Difficulty walking • Inability to look straight ahead when upright The most ergonomic and natural posture is to maintain neutral balance, with the head positioned over the shoulders and pelvis. -
Megalencephaly and Macrocephaly
277 Megalencephaly and Macrocephaly KellenD.Winden,MD,PhD1 Christopher J. Yuskaitis, MD, PhD1 Annapurna Poduri, MD, MPH2 1 Department of Neurology, Boston Children’s Hospital, Boston, Address for correspondence Annapurna Poduri, Epilepsy Genetics Massachusetts Program, Division of Epilepsy and Clinical Electrophysiology, 2 Epilepsy Genetics Program, Division of Epilepsy and Clinical Department of Neurology, Fegan 9, Boston Children’s Hospital, 300 Electrophysiology, Department of Neurology, Boston Children’s Longwood Avenue, Boston, MA 02115 Hospital, Boston, Massachusetts (e-mail: [email protected]). Semin Neurol 2015;35:277–287. Abstract Megalencephaly is a developmental disorder characterized by brain overgrowth secondary to increased size and/or numbers of neurons and glia. These disorders can be divided into metabolic and developmental categories based on their molecular etiologies. Metabolic megalencephalies are mostly caused by genetic defects in cellular metabolism, whereas developmental megalencephalies have recently been shown to be caused by alterations in signaling pathways that regulate neuronal replication, growth, and migration. These disorders often lead to epilepsy, developmental disabilities, and Keywords behavioral problems; specific disorders have associations with overgrowth or abnor- ► megalencephaly malities in other tissues. The molecular underpinnings of many of these disorders are ► hemimegalencephaly now understood, providing insight into how dysregulation of critical pathways leads to ► -
SCOLIOSIS: What Is New and True? Natural History, Screening/Evaluation and Treatment
SCOLIOSIS: what is new and true? Natural history, screening/evaluation and treatment Kathleen Moen MD Swedish Pediatric Specialty Update January 24, 2020 OBJECTIVES • 1) review of entity adolescent idiopathic scoliosis • 2) review the natural history of treated and untreated disease • 3) review screening recommendations and delineating patients who warrant referral • 4) review of treatment modalities Scoliosis • Definition: a lateral spinal curvature measuring at least 10 degrees on xray • Complex 3dimensional spinal deformity Adolescent Idiopathic Scoliosis • AIS: Scoliosis most often develops and progresses during the most rapid times of growth, typically between ages 10 ‐15 years. • NOT infantile or juvenile scoliosis which have different natural history profiles • NOT congenital spinal deformities, neuromuscular scoliosis or spinal dysraphism Adolescent Idiopathic Scoliosis • Classic Teaching – Small curves are common – Progression occurs during most rapid times of growth – Female predominance – Big curves get bigger – Etiology unclear: familial predisposition, and? – Idiopathic scoliosis not typically painful Adolescent Idiopathic Scoliosis • Mild scoliosis curves are common, affecting 2‐3% of the adolescent population, males and females equally • Less than 0.1% of adolescents have curves greater than 40 degrees. • Ratio of females to males 10:1 Cobb Angle Female:Male Prevalence >10 1.4‐2 :1 2 ‐ 3 % >20 5:1 .3 ‐ .5 % >30 10:1 .1 ‐ .3 % >40 10:1 <0.1% Weinstein, SL Adolescent Idiopathic Scoliosis, Prevalence and Natural History. Instructional -
Macrocephaly Information Sheet 6-13-19
Next Generation Sequencing Panel for Macrocephaly Clinical Features: Macrocephaly refers to an abnormally large head, OFC greater than 98th percentile, inclusive of the scalp, cranial bone and intracranial contents. Megalencephaly, brain weight/volume ratio greater than 98th percentile, results from true enlargement of the brain parenchyma [1]. Megalencephaly is typically accompanied by macrocephaly, however macrocephaly can occur in the absence of megalencephaly [2]. Both macrocephaly and megalencephaly can been seen as isolated clinical findings as well as clinical features of a mutli-systemic syndromic diagnosis. Our Macrocephaly Panel includes analysis of the 36 genes listed below. Macrocephaly Sequencing Panel ASXL2 GLI3 MTOR PPP2R5D TCF20 BRWD3 GPC3 NFIA PTEN TBC1D7 CHD4 HEPACAM NFIX RAB39B UPF3B CHD8 HERC1 NONO RIN2 ZBTB20 CUL4B KPTN NSD1 RNF125 DNMT3A MED12 OFD1 RNF135 EED MITF PIGA SEC23B EZH2 MLC1 PPP1CB SETD2 Gene Clinical Features Details ASXL2 Shashi-Pena Shashi et al. (2016) found that six patients with developmental delay, syndrome macrocephaly, and dysmorphic features were found to have de novo truncating variants in ASXL2 [3]. Distinguishing features were macrocephaly, absence of growth retardation, and variability in the degree of intellectual disabilities The phenotype also consisted of prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties and hypotonia. BRWD3 X-linked intellectual Truncating mutations in the BRWD3 gene have been described in males with disability nonsyndromic intellectual disability and macrocephaly [4]. Other features include a prominent forehead and large cupped ears. CHD4 Sifrim-Hitz-Weiss Weiss et al., 2016, identified five individuals with de novo missense variants in the syndrome CHD4 gene with intellectual disabilities and distinctive facial dysmorphisms [5]. -
Kyphectomy in Neonates with Meningomyelocele
Child's Nervous System (2019) 35:673–681 https://doi.org/10.1007/s00381-018-4006-4 ORIGINAL PAPER Kyphectomy in neonates with meningomyelocele Nail Özdemir1 & Senem Alkan Özdemir2 & Esra Arun Özer3 Received: 18 August 2018 /Accepted: 18 November 2018 /Published online: 11 December 2018 # Springer-Verlag GmbH Germany, part of Springer Nature 2018 Abstract Purpose Kyphosis is the most severe spinal deformity associated with meningomyelocele (MMC) and is seen in approximately 15% of neonates. Our purpose is to present our clinical experience, to discuss the technique and deformity correction in kyphectomy in neonates with MMC, and to assess its long-term outcomes. Method In this prospective study, the authors reviewed eight cases submitted to surgery between 2013 and 2015. We evaluated clinical characteristics that were analyzed, as were the operative technique employed, and angle range of the kyphosis deformity postcorrection follow-up. Results Neonatal kyphectomy was performed of six females and two males. The mean birth weight was 2780 g, and the mean age at the time of surgery was 5.6 days. There were S-shaped type deformity in lumbar region in all neonates. In the correction of the kyphotic deformity, a total vertebrae were removed from four patient, whereas a partial vertebrectomy was done in four. The mean operative time was 116 min. No patients did not require the blood transfusion. There were no serious complications, and wound closure was successful in all patients. The mean follow-up period was 4 years and 3 months (range 36–61 months), except one patient who died 1 week after discharge. -
Scoliosis in Paraplegia
Paraplegia (1974), II, 290-292 SCOLIOSIS IN PARAPLEGIA By JOHN A. ODOM, JR., M.D. and COURTN EY W. BROWN, M.D. Children's Hospital, Denver, Colorado in conjunction with ROBERT R. JACKSON, M.D., HARRY R. HA HN, M.D. and TERRY V. CARLE, M.D. Craig Rehabilitation Hospital, Englewood, Colorado WITH the increasing instance of excellent medical care, more children with traumatic paraplegia and myelomeningocele with paraplegia live to adulthood. In these two groups of patients there is a high instance of scoliosis, kyphosis and lordosis. Much attention in the past years has been placed on hips and feet but only in the last decade has there been much attention concentrated on the treatment of the spines of these patients. Most of this attention has been toward the patient with a traumatic paraplegia with development of scoliosis. Some attempts have been made at fusing the scoliotic spine of myelomeningo celes by Harrington Instrumentation but with a rather high instance of complica tions and failures. With the event of anterior instrumentation by Dr. Alan Dwyer of Sydney, Australia, the anterior approach to the spine is becoming widely accepted and very successfully used. This is especially valuable in the correction and fusion of the spine with no posterior elements from birth. MATERIAL FOR STUDY Between March of 1971 and June of 1973, there have been 26 paraplegics with scoliosis who have been cared for by the authors. All of these patients have either been myelomeningoceles with paraplegia or spinal cord injuries, all of whom have had scoliosis, kyphosis, or severe lordosis. -
Spontaneous Pneumothorax Can Be Associated with TGFBR2 Mutation
ERJ Express. Published on October 22, 2015 as doi: 10.1183/13993003.00952-2015 LETTER IN PRESS | CORRECTED PROOF Spontaneous pneumothorax can be associated with TGFBR2 mutation To the Editor: Primary pneumothorax affects 0.01% of the population. 10% of cases have a family history of pneumothorax but in the majority, a definitive genetic diagnosis is not made. We report a 26-year-old, white British woman who presented with left apical pneumothorax (figure 1a). Previously, she had migraines, multiple stress fractures in her right foot, myopia, easy bruising, lumbar scoliosis and spontaneous dislocation of the right patella. She had no previous history of pneumothoraces or any other respiratory problems, and had never smoked. On examination, she was hypermobile (Beighton score 7/9), and had facial milia, translucent hyperextensible skin, striae over her back, chest wall asymmetry, bilateral varicose veins and pes planus. Her uvula was bifid (figure 1b), she had a high arched palate with dental crowding and her arm span/ height ratio was increased (1.14). In the ophthalmology clinic, lattice dystrophy (weakness in the peripheral retina predisposing to retinal detachment) was identified with no ocular features of Marfan syndrome. The patient’s thoracic computed tomography (CT) revealed apical blebs, and her echocardiogram and CT showed aortic root dilatation (3.54 cm, Z-score >2) (figure 1c and d). Her 59-year-old mother, who had not suffered pneumothoraces, was reviewed and found to have mild features of a connective tissue disorder: skin hyperextensibility, joint hypermobility with a Beighton scale score of 5/9, a high-arched palate, mild thoracic kyphosis, easy bruising, recurrent left shoulder dislocation, hiatus hernia, stress incontinence and stress fractures of the left foot. -
Reliability of Measuring Thoracic Kyphosis Angle, Lumbar Lordosis Angle and Straight Leg Raise with an Inclinometer
10 The Open Spine Journal, 2012, 4, 10-15 Open Access Reliability of Measuring Thoracic Kyphosis Angle, Lumbar Lordosis Angle and Straight Leg Raise with an Inclinometer Andrew S. Van Blommestein1, Jeremy S. Lewis2,3,4, Matthew C. Morrissey5, and Sian MacRae1,2,* 1Division of Applied Biomedical Research, School of Biomedical and Health Sciences; 2Therapy Department, Chelsea and Westminster NHS Foundation Trust, London, UK; and 3Physiotherapy Department, St George's Healthcare NHS Trust, London, UK; 4Musculoskeletal Services, Central London Community Healthcare, London, UK; 5Faculty of Health Sciences, University of Ljubljana, Slovenia Abstract: Purpose: Several non-invasive measurement methods have been described in the literature for recording thoracic kyphosis, lumbar lordosis and straight leg raise (SLR). However, attempts to quantify the reliability of the inclinometer in these measurements are scarce. In addition, existing reliability studies within the literature were found to use small sample sizes. The aim of this investigation was to examine the intra-rater reliability of the chief investigator (SM), in order to provide clinicians with data that will allow them to better measure sagittal spinal posture and SLR. A blinded test-retest design was performed to determine the intra-rater reliability of thoracic kyphosis, lumbar lordosis and SLR when assessed using an Isomed inclinometer in normals. Methods. Thirty asymptomatic subjects were assessed on two occasions separated by a time interval of 1 hour to reduce investigator memory bias. Thoracic and lumbar measurements were recorded in a relaxed standing position using an inclinometer; SLR of the dominant leg was assessed with subjects in the supine position. Intraclass correlation coefficients (ICC), 95% confidence intervals (CI), and standard errors of measurement (SEM) were analysed to determine measurement reliability. -
Complications and Radiographic Correction in Adult Scoliosis
Neurosurg Focus 28 (3):E7, 2010 Complications and radiographic correction in adult scoliosis following combined transpsoas extreme lateral interbody fusion and posterior pedicle screw instrumentation MATTHEW J. TOR M ENTI , M.D., MATTHEW B. MASERATI , M.D., CHRISTOPHER M. BONFIEL D , M.D., DAVI D O. OKONKWO , M.D., PH.D., AN D AD A M S. KANTER , M.D. Department of Neurological Surgery, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania Object. The authors recently used a combined approach of minimally invasive transpsoas extreme lateral in- terbody fusion (XLIF) and open posterior segmental pedicle screw instrumentation with transforaminal lumbar in- terbody fusion (TLIF) for the correction of coronal deformity. The complications and radiographic outcomes were compared with a posterior-only approach for scoliosis correction. Methods. The authors retrospectively reviewed all deformity cases that were surgically corrected at the Uni- versity of Pittsburgh Medical Center Presbyterian Hospital between June 2007 and August 2009. Eight patients underwent combined transpsoas and posterior approaches for adult degenerative thoracolumbar scoliosis. The com- parison group consisted of 4 adult patients who underwent a posterior-only scoliosis correction. Data on intra- and postoperative complications were collected. The pre- and postoperative posterior-anterior and lateral scoliosis series radiographic films were reviewed, and comparisons were made for coronal deformity, apical vertebral translation (AVT), and lumbar lordosis. Clinical outcomes were evaluated by comparing pre- and postoperative visual analog scale scores. Results. The median preoperative coronal Cobb angle in the combined approach was 38.5° (range 18–80°). Fol- lowing surgery, the median Cobb angle was 10° (p < 0.0001). The mean preoperative AVT was 3.6 cm, improving to 1.8 cm postoperatively (p = 0.031). -
Escobar Syndrome Associated with Spine and Orthopedic Pathologies
tics: Cu ne rr e en G t y R r e a Balioglu, Hereditary Genet 2015, 4:2 t s i e d a e r r c DOI: 10.4172/2161-1041.1000145 e h H Hereditary Genetics ISSN: 2161-1041 Case Report Open Access Escobar Syndrome Associated with Spine and Orthopedic Pathologies: Case Reports and Literature Review Balioglu MB* Metin Sabanci Baltalimani Bone Disease Education and Research Hospital, Istanbul, Turkey Abstract Escobar syndrome (ES) is associated with a web across every flexion crease in the extremities (most notably the popliteal space) and other structural anomalies such as a vertical talus, clubfoot, thoracic kyphoscoliosis and severe restrictive lung disease. In our study, we evaluated 3 patients diagnosed with multiple pterygium syndrome (MPS) type Escobar. The purpose of this study was to assess the abnormalities of the vertebrae and concomitant orthopedic pathologies. Two male patients (17 and 20-year-old siblings) and one female patient (9 year-old) were diagnosed with ES by genetic analysis. Patients had been diagnosed with kyphosis and progressive scoliosis (except one), high-set palate, ptosis, low-set ears, arachnodactyly, craniofacial dysmorphism, mild deafness, clubfoot, hip luxation, and joint contractures. Patients received operations for dislocation of the hip, clubfoot correction (except the female patient), and contractures of the knee and ankle. Furthermore, patients also underwent surgery for ptosis and inguinal hernias (except the female patient). One male patient received posterior vertebral instrumentation and fusion for a progressive spine deformity. Spinal and orthopedic pathologies commonly occur in patients with ES and scoliosis, and kyphosis may progress considerably over time. -
Degenerative Spondylolisthesis
AN INTRODUCTION TO DEGENERATIVE SPONDYLOLISTHESIS This booklet is designed to inform you about lumbar degenerative spondylolisthesis. It is not meant to replace any personal conversations that you might wish to have with your physician or other member of your healthcare team. Not all the information here will apply to your individual treatment or its outcome. The information is intended to answer some of your questions and serve as a stimulus for you to ask appropriate questions about spinal alignment and spine surgery. About the Spine CERVICAL The human spine is comprised of the cervical (neck) spine, the thoracic (chest) spine, the lumbar (lower back) spine, and sacral THORACIC bones. The entire spine is made up of 24 bones, called vertebrae. These vertebrae are connected by several joints, which allow you to LUMBAR bend, twist, and carry loads. The main joint between two vertebrae is called an intervertebral disc. The disc is comprised of two parts, a tough and fibrous outer layer (annulus fibrosis) and a soft, gelatinous center (nucleus pulposus). These two parts work in conjunction to allow the spine to move, and also provide shock absorption. INTERVERTEBRAL ANNULUS DISC FIBROSIS SPINAL NERVES NUCLEUS PULPOSUS What is Degenerative Spondylolisthesis? Degenerative spondylolisthesis is a condition where the intervertebral disc degenerates resulting in a loss of disc height and instability, causing one vertebra to slip forward over another vertebra below it. The word spondylolisthesis is comprised of two parts: spondylo meaning spine, and listhesis meaning slippage. This condition can cause impingement of the spinal nerves and/or fatigue of the back muscles, and may result in lower back and/or leg pain.