Congenital Diseases and Syndromes Jarrah Ali Al-Tubaikh Maximilian F

Congenital Diseases and Syndromes Jarrah Ali Al-Tubaikh Maximilian F. Reiser

Congenital Diseases and Syndromes

An Illustrated Radiological Guide Dr. Jarrah Ali Al-Tubaikh Prof. Dr. Maximilian F. Reiser, FRCR, FACR Universitätsklinikum München Universitätsklinikum München Klinikum Gro§hadern Klinikum Gro§hadern Institut für Klinische Radiologie Institut für Klinische Radiologie Marchioninistr. 15 Marchioninistr. 15 81377 München 81377 München Germany Germany [email protected] [email protected]

Radiologist, Medical Illustrator Department of Diagnostic Radiology Sabah Hospital, Kuwait

All illustrations marked with were drawn by the author.

ISBN: 978-3-642-00159-8 e-ISBN: 978-3-642-00160-4

DOI: 10.1007/978-3-642-00160-4

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Library of Congress Control Number: 2009921988

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Springer is part of Springer Science+Business Media (www.springer.com) This book is dedicated to my mother, my father, my family, and my beloved country Kuwait. Preface

Radiology to me is an art more than a science; an art of imaging the human body, and an art of extracting information from an image. Radiology today is a vital specialty that almost no other medical specialty can work without. Congenital anomalies and syndromes are complex subjects in all medical specialties. They require knowledge of the normal anatomy and of the embryological basis of organogenesis. The importance of recognizing a congenital malformation or an anomaly, which can be the tip of an iceberg of a more complex syndrome, is to prevent future manifestations of a syndrome if possible or to reduce its severity. Due to this concept, I had an interest in studying how to use the radiological modalities in diagnosing congenital malformations as early as possible. Although radiology offers very powerful tools for diagnosis, the basics of medicine are still the main tools to be used for diagnosis. History, observation, clinical examination, and laboratory investigations are essential elements for diagnosis, which need to be used before radiology investigations are initiated. The idea of this book is based on a simple principle: it is to link radiology to these basic medical tools. The book is written for junior radiologists, radiology students, and doctors interested in congenital malformations and syndromes in any specialty. Each disease is represented with a defi nition, description, etiology, diagnostic crite- ria, main symptoms, and its typical diagnostic radiological features on the modern radiological modalities available today. Important clinical manifestations, rare radiological signs, gross pathological morphology, or special classifi cations are illustrated by using digital medical illustrations and digital photo manipulation. Radiology is a visual science, and no matter how well-written the description of a sign, if you do not see the sign, it is usually diffi cult to identify it in a real situation. As a radiologist, artist, professional graphic designer, and medical illustrator, I used to collect and draw the diffi cult and rare signs by using digital media. Over time, a huge archive of disease signs accumulated in my computer, from where this book came into life. When I started studying congenital diseases and their radiological features, I faced many diffi culties in fi nding defi nitions of the anomalies and their descriptions. There is no clear-cut line that tells the junior radiologist which case is a specialized case and which case is a general congenital anomaly that he/she should be aware of. You can easily get caught up in details and be sidetracked when reading a big reference textbook. For example, if you want to study a case of dwarfi sm, you will fi nd yourself reading about case one, which has a similarity to case two, that will refer you to case three, and so on. In this book, I tried to collect and illustrate many of the cases in which radiology plays an important diagnostic role. Moreover, I included congenital malformations that are commonly mentioned in the radiological board examinations,

vii viii Preface or can be faced occasionally in a busy radiological department. Some of the cases included are rare and considered to be specialty-related cases, but in my opinion they are interesting to know about. The main goal of this book is to serve as a visual guide for radiology students and doctors interested in congenital diseases. The book is not intended as a substitute for standard radiological textbooks or common reference texts. Readers who are interested in more details are kindly requested to refer to the selected references supplied or to any specialized medical textbook. Finally, I hope this book and its illustrations serve the reader by simplifying the congenital diseases and malformations for him/her. After all, increasing the quality and precision of diagnosis is the aim of any doctor.

Munich, Germany Jarrah Ali Al-Tubaikh Maximilian F. Reiser Acknowledgments

I would like to thank the people who contributed to this project by supplying me with many of the cases illustrated in this book from their private archives:

Alaa Abou-Beih, Bader Al-Mahdi, Khaled Al-Sayyed, Magdi Al-Taweel, Tarek Al-Zayat, Ibrahim Helmi, and Rajae Makar.

Also, I would like to thank the people who supported me and this project, and helped me in many ways to accomplish it:

Samar Al-Farra, Moneera Al-Husaini, Ahmed Al-Mutairi, Mohammed Sami Khalifa (MD), Ibrahim Al-Abdulhadi (MD), Salman Al-Haqqan, Jalal Al-Baghli, Salman Jamal, Bashar Al-Shawaf, Ali Al-Shubbar, Adel Reda (MD), Mohammed Awad, Sameer Abu-Rabea, and Wieland Sommer (MD).

ix Contents

1 The CNS ...... 1 1.1 Anencephaly (Acrania)...... 2 1.2 Encephalocele...... 3 1.3 Holoprosencephaly ...... 5 1.4 Hydranencephaly ...... 8 1.5 Schizencephaly ...... 10 1.6 Septo-optic Dysplasia (de Morsier Syndrome) ...... 12 1.7 Corpus Callosum Dysgenesis ...... 13 1.8 Gyral Abnormalities ...... 15 1.9 Gray Matter Heterotopias ...... 18 1.10 Arnold-Chiari Malformations...... 20 1.11 Dandy-Walker Malformation ...... 23 1.12 Cavum Septum Pellucidum and Cavum Vergae ...... 26 1.13 Fahr Disease ...... 28 1.14 Menkes and Wilson Diseases ...... 30 1.15 Cerebellar Anomalies ...... 32 2 The Head and Neck ...... 35 2.1 Eagle Syndrome ...... 36 2.2 Hyperostosis Frontalis Interna ...... 37 2.3 Craniofacial Fibrous Dysplasia and Its Anomalies...... 38 2.4 Gardner Syndrome ...... 41 2.5 Choanal Atresia...... 42 2.6 Congenital Cystic Lesions of the Head and Neck ...... 43 2.7 External Auditory Canal Atresia...... 49 2.8 Congenital Anomalies of the Internal Ear (Congenital Hearing Loss) ...... 50 2.9 Hearing Loss Syndromes ...... 53 2.10 Petrous Bone Vascular Anomalies ...... 56 2.11 Orbital Anomalies...... 59 2.12 Congenital Cholesteatoma ...... 64 3 The Chest and Heart ...... 67 3.1 Azygos Fissure ...... 68 3.2 Scimitar Syndrome (Hypogenic Lung Syndrome) ...... 69 3.3 Horseshoe Lung ...... 71

xi xii Contents

3.4 Poland Syndrome ...... 73 3.5 Bronchiectasis...... 74 3.6 Osler-Weber-Rendu Syndrome (Hereditary Hemorrhagic Telangiectasia) ...... 76 3.7 Aortic Arch Anomalies ...... 78 3.8 Coronary Artery Anomalies ...... 83 3.9 Rare Congenital Heart Anomalies ...... 88 4 The Abdomen and Pelvis...... 95 4.1 Heterotaxy Syndromes ...... 96 4.2 Chilaiditi Syndrome ...... 98 4.3 Meckel Diverticulum ...... 99 4.4 Duodenal and Jejunoileal Atresias ...... 101 4.5 Budd-Chiari Syndrome...... 102 4.6 Cruveilhier-Baumgarten Syndrome ...... 104 4.7 Choledochal Cyst and Caroli Disease...... 108 4.8 Mirizzi Syndrome ...... 110 4.9 Congenital Anomalies of the Spleen...... 111 4.10 Anomalies of the Inferior Vena Cava ...... 113 4.11 Congenital Anomalies of the Kidneys ...... 117 4.12 Congenital Uterine Malformations...... 121 4.13 Retrocaval Ureter ...... 125 4.14 Hematocolpos ...... 127 4.15 Alagille Syndrome (Arteriohepatic Dysplasia) ...... 129 5 The Musculoskeletal System ...... 131 5.1 Basic Concepts in Bone Dysplasias ...... 132 5.2 Congenital Radioulnar Synostosis ...... 139 5.3 Klippel-Feil Syndrome (Blocked Cervical Vertebrae) ...... 140 5.4 Spinal Dysraphism ...... 142 5.5 Vertebral Clefts...... 145 5.6 Arcuate Foramen (Kimmerle Anomaly)...... 147 5.7 Supracondylar Process of the Humerus ...... 148 5.8 Tarsal Coalition...... 149 5.9 Paget Disease (Ostitis Deformans) ...... 151 5.10 Osteopetrosis (Albers-Schönburg Disease/Marble Bone Disease)...... 153 5.11 Mucopolysaccharidosis...... 156 5.12 Ollier Disease and Maffucci Syndrome ...... 159 5.13 Osteogenesis Imperfecta...... 161 5.14 Caudal Regression Syndrome and Sirenomelia (Mermaid Syndrome) ...... 163 5.15 Ellis-van Creveld Syndrome (Chondroectodermal Dysplasia). . . . . 165 5.16 SAPHO Syndrome (Anterior Chest Wall Syndrome)...... 166 5.17 Fong Disease and Nail-Patella Syndrome ...... 168 5.18 Progeria (Hutchinson-Gilford Syndrome) ...... 169 5.19 Tarlov Cyst ...... 171 5.20 Madelung Deformity and Dyschondrosteosis (Léri-Weill Syndrome) ...... 173 Contents xiii

6 Phakomatoses (Neurocutaneous Syndromes) ...... 175 6.1 Neuroﬁ bromatosis...... 176 6.2 Sturge-Weber Syndrome (Encephalotrigeminal Angiomatosis). . . . 180 6.3 Tuberous Sclerosis (Bourneville-Pringle Disease) ...... 182 6.4 Neurocutaneous Melanosis...... 185 6.5 PHACE Syndrome ...... 187 6.6 Von Hippel-Lindau Syndrome ...... 189 6.7 Cowden Syndrome (Multiple Hamartoma-Neoplasia Syndrome) ...... 191 6.8 Gorlin Syndrome (Basal Nevus Cell Carcinoma Syndrome) ...... 193 6.9 Wyburn-Mason Syndrome ...... 194 Index ...... 197 Contributors

Rajae Makar Department of Diagnostic Radiology, Sabah Hospital, Kuwait Ibrahim Helmi Department of Diagnostic Radiology, Chest Hospital, Kuwait Bader Al-Mahdi Cardiology Care Unit, Adan Hospital, Kuwait Alaa Abou-Beih Department of Ear, Nose and Throat, Zain Hospital, Kuwait, Lecturer, Otolaryngology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt Tarek Al-Zayat Department of Diagnostic Radiology, Al-Azhar University Hospitals, Cairo, Egypt Magdi Al-Taweel Department of Diagnostic Radiology, Al-Azhar University Hospitals, Cairo, Egypt Khaled Al-Sayyed Department of Diagnostic Radiology, Sabah Hospital, Kuwait

xv Abbreviations

CT computed tomography MRI Magnetic resonance image T1W T1-weighted T2W T2-weighted US ultrasound

xvii