Paediatric Orthopaedic Diagnosis

Transcription

1 Paediatric Orthopaedic Diagnosis

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3 Benjamin Joseph James Robb Randall T. Loder Ian Torode Paediatric Orthopaedic Diagnosis Asking the Right Questions

4 Benjamin Joseph Aster Medcity Kochi Kerala India James Robb Orthopaedic University of St Andrews Scotland UK Randall T. Loder James Whitcomb Hospital Indianapolis, IN USA Ian Torode Victorian Paediatric Orthopaedic Centre Melbourne Australia ISBN DOI / ISBN (ebook) Library of Congress Control Number: Springer New Delhi Heidelberg New York Dordrecht London Springer India 2015 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Printed on acid-free paper Springer (India) Pvt. Ltd. is part of Springer Science+Business Media (

5 In gratitude to our wives, Susan, Christine, Frith, and Lyn, who forfeited many hours while we worked to complete this book. Benjamin Joseph, Randall Loder, James Robb, Ian Torode

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7 Foreword This new work by four very experienced paediatric orthopaedic surgeons utilizes a novel approach designed to enable the clinician to make an accurate diagnosis of quite a variety of musculoskeletal conditions which affect children. While the presentation is new, the conceptual basis goes back to the beginning of organized medicine. The authors begin each chapter with a series of questions which the practitioner should ask the patient or parent. This, of course, represents the taking of a history. How often have each of us had to relearn the dictum that the most important diagnostic study of all is a careful history. I believe that it was William Osler who said, Listen to your patient and he will tell you the diagnosis. The next step in the search for a diagnosis is the physical examination. The authors put this in modern parlance with categories, look, feel, and move. Within each category both common and unusual findings are considered. Thus, the reader is encouraged to avoid quickly jumping to studies and tests before performing a thoughtful and thorough physical examination of the patient. Next the authors move through appropriate studies, radiographs, laboratory exams, and the like. These considered, the physician is now ready to construct a differential diagnosis. Especially helpful are the charts which are constructed to further organize the previously presented information. Finally appropriate references are cited to allow the clinician to broaden his or her knowledge. The chosen topics encompass most of the common presentations to a clinician both in the general setting and a specialty setting. Students and trainees will find the book especially helpful as they seek to acquire diagnostic skills. The authors have deliberately avoided describing treatment of the various conditions. This will be welcomed by practitioners in the primary care arena. Their need is one of recognition, understanding of the appropriate approach to making a diagnosis. Other resources are available when needed to guide treatment. In summary this book will be a valuable teaching aid in a variety of clinical settings. Most common conditions are covered by this authoritative and easily understood presentation, and many emerging practitioners will keep it handy. TX, USA Tony Herring, MD vii

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9 Foreword Paediatric orthopaedics is at crossroads. It is perhaps the last general orthopaedic specialty that covers a spectrum of well-recognized and more subtle musculoskeletal disorders that may or may not be difficult to diagnose. Moreover, there is a variation in age-specific conditions. This book addresses the question of the strategy for the approach to diagnosis in the various age groups according to the presenting symptom or disorder. Most common disorders, as they present, are addressed and then dissected in question form to provide a route to the correct diagnosis. This is the overwhelming success of the book. There is an old saying that every patient is trying to tell the doctor something if only they would listen. Modern-day paediatric orthopaedic diagnosis is often in the hands of paramedical or nursing staff, and frequently the primary disorder presents in the emergency department rather than to primary or secondary care. This book provides a ready handbook to structured investigation and clinical assessment which is now frequently overlooked, in current practice, in preference for a generic nonspecific imaging protocol. It will be invaluable as a tool, not only for frontline staff but also as a prompt for clinical teaching in the clinic and a reference for residents in training. The major contribution, however, is in the overall clinical safety of its approach to diagnosis and its avoidance of inappropriate overinvestigation in the various age groups, with common or rarer disorders. Southampton, UK Prof. N.M.P. Clarke, ChM, DM, FRCS, FRCS Ed ix

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11 Preface The clinician s role in reaching a diagnosis is, in many ways, similar to a detective tracking down the culprit in a crime. Both the clinician and the detective ask questions. The more pertinent the questions become, the closer the disease or culprit is to being identified. When confronted with a child with a limp, the first question that crops up is, is it a painful or painless limp? The answer to this question clearly narrows down the possibilities. If the child has no pain, the second question could be when did the child start limping? If the child has been limping right from the time he or she started walking, the possible diagnoses come down to a handful of conditions that can easily be differentiated by clinical examination and one or two simple investigations. Thus, the emphasis of this book is to assist the reader to formulate rational questions to facilitate the diagnosis of the cause of orthopaedic problems occurring in children of different ages. The book has been divided into sections based on the usual age at presentation: the newborn, the infant, the toddler and the preschool child, the child in the school-going age, and the adolescent. It is possible that a child with a congenital anomaly may present for the first time in the school-going age; in which case, the reader would have to look under the newborn section to get the necessary information. An attempt has been made to include all the common conditions that are encountered in clinical practice; some of the rarer conditions have also been included in several chapters to make this book wider in its scope. However, it is not intended to present a comprehensive, exhaustive discussion of each topic. It is hoped that this book will be of benefit to fellows and junior consultants in children s orthopaedics, neonatology, and paediatrics in their respective busy practices. Kochi, India Indianapolis, IN, USA Edinburgh, UK Melbourne, Australia Benjamin Joseph Randall T. Loder James Robb Ian Torode xi

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13 Part I The Newborn 1 The Deformed Hip Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Special Tests Investigations to Confirm the Diagnosis Radiography Ultrasound Differential Diagnosis Developmental Dysplasia of the Hip Teratogenic Hip Dislocation Congenital Coxa Vara Proximal Focal Femoral Deficiency Rare Conditions Establishing the Diagnosis References The Deformed Femur Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Investigations to Confirm the Diagnosis Differential Diagnosis Shortening Failure of Development Bowing Without Shortening Bowing with Shortening Duplication Rare Conditions xiii

14 xiv 2.6 Establishing the Diagnosis References The Deformed Knee Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Investigations to Confirm the Diagnosis Differential Diagnosis Flexion Deformity Extension Deformity Rare Conditions Establishing the Diagnosis References The Bowed Tibia Introduction Questions to Establish a Diagnosis Investigations to Confirm the Diagnosis Plain Radiographs Ultrasound Differential Diagnosis Fibular Hemimelia Congenital Pseudarthrosis of the Tibia Congenital Posteromedial Bowing of the Tibia Rarer Causes of Bowing of the Tibia in the Newborn Establishing the Diagnosis References The Inverted Foot Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Assessment of Severity of the Deformity Investigations to Confirm the Diagnosis Differential Diagnosis Establishing the Diagnosis References The Everted Foot Introduction Questions to Establish a Diagnosis

15 xv 6.3 Physical Examination Look Feel Move Special Tests Investigations to Confirm the Diagnosis Differential Diagnosis Establishing the Diagnosis References The Deformed Shoulder Girdle Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Special Tests Investigations to Confirm the Diagnosis Differential Diagnosis Anomalies of the Scapula Anomalies of the Clavicle Abnormalities of Muscles Establishing the Diagnosis References The Deformed Elbow Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Investigations to Confirm the Diagnosis Differential Diagnosis Multiple Congenital Contractures Beals Syndrome Antecubital Pterygium Humeroradial Synostosis Rare Conditions Establishing the Diagnosis References The Deformed Wrist Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move

16 xvi 9.4 Investigations to Confirm the Diagnosis Differential Diagnosis Multiple Congenital Contractures Radial and Ulnar Deficiency Langer Mesomelic Dysplasia, Leri-Weill Dyschondrosteosis, and Turner Syndrome Rare Conditions Establishing the Diagnosis References The Deformed Spine in the Newborn Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Additional Tests Investigations to Confirm the Diagnosis Differential Diagnosis Torticollis and Congenital Cervical Anomalies Infantile (Early Onset) Idiopathic Scoliosis Syndromes Involving Congenital Anomalies and Other Stigmata Spinal Dysraphism/Meningomyelocele Achondroplasia Osteogenesis Imperfecta Establishing the Diagnosis References Absent Digits in the Hands or Feet Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Investigations to Confirm the Diagnosis Differential Diagnosis Radial Ray Deficiency Ulnar Ray Deficiency Ray Deficiency with Tibial Hemimelia Ray Deficiency with Fibular Hemimelia Central Ray Deficiency Terminal Transverse Deficiency Amniotic Constriction Band Establishing the Diagnosis References

17 xvii 12 Duplication of Fingers Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Investigations to Confirm the Diagnosis Differential Diagnosis Preaxial Polydactyly Postaxial Polydactyly References Duplication of Toes Introduction Questions to Establish a Diagnosis Examination Differential Diagnosis Isolated Polydactyly Polydactyly Associated with Other Anomalies of the Limb Polydactyly Associated with a Syndrome Establishing the Diagnosis References Deformities of Fingers and Toes in the Newborn Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Investigations to Confirm the Diagnosis Radiography Differential Diagnosis: The Fingers and Thumb Syndactyly Brachydactyly Symphalangism Deformities Arachnodactyly The Toes Brachydactyly Deformities Abnormalities of the Nails of Fingers and Toes Disorganized and Nonfunctional Digits Finger and Toe Abnormalities that may Facilitate Diagnosis of a Generalized Disorder References

18 xviii 15 Limb Length Inequality at Birth Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Investigations to Confirm the Diagnosis Differential Diagnosis Deficiencies Deformities Dislocation Hemihypertrophy Other Causes of Limb Length Inequality at Birth Establishing the Diagnosis References Abnormal Body Proportions and Dwarfism at Birth Introduction Questions to Establish a Diagnosis Physical Examination Investigations to Confirm the Diagnosis Differential Diagnosis Skeletal Dysplasia Primordial Dwarfism Establishing the Diagnosis References Part II The Neonate and Infant 17 Decreased Movement of the Upper or Lower Limb in the Neonate Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Special Tests Investigations to Confirm the Diagnosis Plain Radiographs Ultrasound Magnetic Resonance Imaging Isotope Scan Establishing the Diagnosis References

19 xix 18 Deformity of the Neck and Limitation of Movement of the Neck in the Neonate and Infant Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Investigations to Confirm the Diagnosis Radiography Special Imaging Studies Laboratory Studies Differential Diagnosis Torticollis Congenital Muscular Torticollis Sandifer Syndrome Paroxysmal Torticollis of Infancy Klippel-Feil Syndrome Other Bony Causes of Torticollis and Short Neck Other Rare Conditions Causing Torticollis Other Rare Causes Resulting in Limitation of Neck Motion Establishing the Diagnosis References Part III The Toddler and the Pre-school Child 19 The Child with Multiple Deformities Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Investigations to Confirm the Diagnosis Differential Diagnosis of Conditions That Cause Multiple Deformities in Children Multiple Congenital Contractures Bone Disease Arthritis Skeletal Dysplasia Sequelae of Multifocal Septic Arthritis and Osteomyelitis Metabolic Bone Disease Paralytic Conditions Rare Conditions Establishing the Diagnosis References

20 xx 20 Acquired Deformities of the Knee Establishing the Diagnosis of the Cause of Genu Varum or Valgum Introduction Questions to Establish a Diagnosis Physical Examination Investigations to Confirm the Diagnosis Causes of Genu Varum or Valgum Establishing the Diagnosis Establishing the Diagnosis of the Cause of Flexion or Extension Deformity of the Knee Introduction Questions to Establish a Diagnosis Physical Examination Investigations to Confirm the Diagnosis Differential Diagnosis of Causes of Flexion or Extension Deformities of the Knee Establishing the Diagnosis References In-Toeing and Out-Toeing Gait Introduction Questions to Establish a Diagnosis Physical Examination Look Move Investigations to Confirm the Diagnosis Differential Diagnosis In-Toeing Out-Toeing Less Common Conditions Establishing the Diagnosis References Toe Walking Introduction Questions to Establish a Diagnosis Physical Examination Look Standing Walking Move Measure Special Tests Differential Diagnosis Idiopathic Toe Walking (ITW) Toe Walking Associated with Dyspraxia or Autism Bilateral Cerebral Palsy

21 xxi Muscular Dystrophy (MD) Myopathy Short Gastrocnemius or Soleus Unilateral Tiptoeing Other Causes Establishing the Diagnosis References The Flatfoot Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Special Tests Investigations Differential Diagnosis Physiologic Flatfoot Pathologic Flatfoot Less Common Causes of Flatfoot Establishing the Diagnosis References The Child with a Painless Limp Introduction Gait Maturation Prerequisites for Normal Gait Questions to Establish a Diagnosis Physical Examination Look: Observe the Gait Feel Move Measure Additional Tests Investigations to Confirm the Diagnosis Differential Diagnosis Limb Length Inequality Muscle Weakness Joint Stiffness Joint Deformity Joint Instability Less Common Conditions Rare Conditions Establishing the Diagnosis References The Delayed Walker Introduction Questions to Establish a Diagnosis

22 xxii 25.3 Physical Examination Differential Diagnosis of the Cause of Delayed Walking Delay in an Otherwise Normal Child Delay in a Child with a Disorder of the CNS, Peripheral Nerves, or Muscle Other Causes Establishing the Diagnosis References Part IV The Child in the School-Going Age 26 Deformities and Limitation of Movements of the Shoulder Girdle Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Investigations to Confirm the Diagnosis Differential Diagnosis Obstetric Brachial Plexus Palsy Sprengel s Shoulder (Congenital Elevation of the Scapula) Injection Fibrosis of the Deltoid Muscle Cerebral Palsy Mechanical Impingement and Growth Disturbance of the Proximal Humerus Rare Conditions Establishing the Diagnosis References Deformities and Limitation of Movement of the Elbow Introduction Establishing the Diagnosis of the Cause of Cubitus Varus and Valgus Questions to Establish a Diagnosis of Cubitus Varus and Valgus Physical Examination Investigations to Confirm the Diagnosis Differential Diagnosis Establishing the Cause of Limitation of Elbow Motion and Flexion or Extension Deformity of the Elbow Questions to Establish a Diagnosis of Flexion or Extension Deformity of the Elbow Physical Examination Investigations to Confirm the Diagnosis Differential Diagnosis References

23 xxiii 28 Deformities and Limitation of Motion of the Forearm Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Special Tests Investigations to Confirm the Diagnosis Differential Diagnosis Congenital Radioulnar Synostosis Congenital Dislocation of the Radial Head Cerebral Palsy Obstetric Brachial Plexus Palsy Hereditary Multiple Osteochondromatosis Malunited Monteggia Fracture-Dislocation Malunited Fracture of the Forearm Bones Rare Cause of Limitation of Pronation and Supination Establishing the Diagnosis References Deformities and Limitation of Movement of the Wrist Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Investigations to Confirm the Diagnosis Differential Diagnosis Obstetric Brachial Plexus Palsy Cerebral Palsy Hereditary Multiple Osteochondromatosis Skeletal Dysplasia Leri-Weill Dyschondrosteosis and Turner Syndrome Madelung Deformity Growth Arrest of Distal Radial Physis Rare Conditions Establishing the Diagnosis References Brittle Bones and Frequent Fractures Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Special Tests

24 xxiv 30.4 Investigations to Confirm the Diagnosis Plain Radiographs CT Scan/MRI Differential Diagnosis Osteogenesis Imperfecta Syndromes Resembling OI (SROI) Osteopetrosis and Pycnodysostosis Metabolic Disorders Leading to Multiple Fractures Establishing the Diagnosis References The Child with a Painful Limp Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Special Tests Investigations to Confirm the Diagnosis Imaging Laboratory Investigations Differential Diagnosis Trauma Infection Osteochondrosis Neoplasia Chronic Arthritis Metabolic Bone Disease Neuromuscular Conditions Other Regional Causes of Painful Limp Rarer Causes of Painful Limp Establishing the Diagnosis References The Painful Hip Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Investigations to Confirm the Diagnosis Plain Radiographs Ultrasound MRI Scan Isotope Bone Scan Laboratory Investigations

25 xxv 32.5 Differential Diagnosis Septic Arthritis of the Hip Transient Synovitis Perthes Disease Tuberculosis of the Hip Juvenile Idiopathic Arthritis (JIA) Stress Fracture of the Neck of the Femur Osteomyelitis (Proximal Femur and Pelvis) Osteoid Osteoma Pyomyositis Overuse Injuries (Muscle Strains, Apophysitis, Avulsion Injuries) Establishing the Diagnosis References Short Stature and Altered Body Proportions Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Measure and Plot Investigations to Confirm the Diagnosis Radiographs Endocrine Tests Other Tests Differential Diagnosis of Short Stature Hormone Deficiency Primary Systemic Disease Skeletal Dysplasia Syndromes with Short Stature Familial Short Stature Establishing the Diagnosis References Localized Gigantism of the Limbs Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Investigations to Confirm the Diagnosis Differential Diagnosis Gigantism and Lipofibromatosis Gigantism and Neurofibromatosis Gigantism and Vascular Malformations

26 xxvi Gigantism Associated with Multiple Enchondromatosis Syndromes Associated with Local Gigantism Rarer Causes of Local Gigantism Establishing the Diagnosis References Acquired Limb Length Inequality Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Special Tests Investigations to Confirm the Diagnosis Plain Radiographs CT Scanogram Additional Imaging Differential Diagnosis Shortening Secondary to Physeal Arrest from Septic Processes Shortening Due to Trauma Shortening from Acquired Lower Extremity Disorders Shortening Secondary to Neurologic Conditions Neoplastic and Dysplastic Conditions Miscellaneous Causes of Shortening Establishing the Diagnosis References Part V The Adolescent 36 The Painful Hip in Adolescence Introduction Questions to Establish a Diagnosis Physical Examination Look Feel Move Investigations to Confirm the Diagnosis Differential Diagnosis Slipped Capital Femoral Epiphysis Avascular Necrosis Idiopathic Chondrolysis Acetabular Protrusio Femoroacetabular Impingement (FAI)

27 xxvii Developmental Hip Dysplasia (DDH) Musculoskeletal Infection Neoplastic Processes Trauma Overuse Syndromes Establishing the Diagnosis References The Painful Knee in Adolescence Introduction Questions to Establish a Diagnosis Questions in the History Questions Related to Examination Physical Examination Look Feel Move Special Tests Investigations to Confirm the Diagnosis Radiography MRI CT Scan Differential Diagnosis Overuse Conditions Intraarticular Pathology Patellofemoral Disorders Inflammatory Causes Tumors Trauma Knee Bursae Knee Pain in Neuromuscular Disorders Less Common Causes of Knee Pain Establishing the Diagnosis References Further Reading The Painful Foot in Adolescence Introduction Questions to Establish a Diagnosis Questions in the History Questions Related to Examination Physical Examination Look Feel Move Investigations to Confirm the Diagnosis

28 xxviii 38.5 Differential Diagnosis Trauma Infection Osteochondritis Dissecans JIA Accessory Navicular Tarsal Coalition Flatfeet Cavus Toe Pathology Less Common Causes of Foot Pain Establishing the Diagnosis References Further Reading