Ebook Diagnostic imaging head and neck (2nd edition): Part 1

(BQ) Part 1 book Diagnostic imaging head and neck presents the following contents: Suprahyoid and infrahyoid neck (parapharyngeal space, pharyngeal mucosal space, pharyngeal mucosal space,...), squamous cell carcinoma (pediatric lesions, primary sites, perineural tumor and nodes), pediatric and syndromic diseases (pediatric lesions, pediatric lesions).

Diagnostic Imaging Head and Neck Diagnostic Imaging Head and Neck Table of Contents Authors 12 Dedication 14 Case Contributors 14 Preface 15 Acknowledgements 16 Part I - Suprahyoid and Infrahyoid Neck 16 Section - Introduction and Overview 16 Suprahyoid and Infrahyoid Neck Overview 16 Section - Parapharyngeal Space 23 Introduction and Overview 23 Parapharyngeal Space Overview .23 Benign Tumors 26 Parapharyngeal Space Benign Mixed Tumor 26 Section - Pharyngeal Mucosal Space 29 Introduction and Overview 29 Pharyngeal Mucosal Space Overview 29 Congenital Lesions 34 Tornwaldt Cyst .34 Infectious and Inflammatory Lesions 37 Retention Cyst of Pharyngeal Mucosal Space 37 Tonsillar Inflammation 40 Tonsillar/Peritonsillar Abscess .43 Benign and Malignant Tumors 46 Benign Mixed Tumor of Pharyngeal Mucosal Space 46 Non-Hodgkin Lymphoma of Pharyngeal Mucosal Space 49 Masticator Space Overview 55 Section - Masticator Space 60 Introduction and Overview 60 Pterygoid Venous Plexus Asymmetry 60 Pseudolesions 63 Benign Masticator Muscle Hypertrophy 63 CNV3 Motor Denervation .66 Infectious Lesions .72 Masticator Space Abscess .72 Benign Tumors 78 Masticator Space CNV3 Schwannoma .78 Malignant Tumors 81 Masticator Space CNV3 Perineural Tumor .81 Masticator Space Chondrosarcoma 87 Masticator Space Sarcoma 93 Section - Parotid Space 99 Introduction and Overview 99 Parotid Space Overview 99 Infectious and Inflammatory Lesions 104 Acute Parotitis 104 Parotid Sjogren Syndrome 110 Benign Lymphoepithelial Lesions-HIV 116 Benign Tumors 122 Parotid Benign Mixed Tumor 122 Warthin Tumor 128 Parotid Schwannoma 134 Malignant Tumors 137 Parotid Mucoepidermoid Carcinoma 137 Parotid Adenoid Cystic Carcinoma 143 Parotid Malignant Mixed Tumor 146 Parotid Non-Hodgkin Lymphoma 149 Diagnostic Imaging Head and Neck Metastatic Disease of Parotid Nodes 155 Section - Carotid Space 161 Introduction and Overview 161 Carotid Space Overview 161 Normal Variants 166 Tortuous Carotid Artery in Neck 166 Vascular Lesions 169 Carotid Artery Dissection in Neck 169 Carotid Artery Pseudoaneurysm in Neck 175 Carotid Artery Fibromuscular Dysplasia in Neck 178 Acute Idiopathic Carotidynia 181 Jugular Vein Thrombosis 184 Post-Pharyngitis Venous Thrombosis (Lemierre) 190 Benign Tumors 193 Carotid Body Paraganglioma 193 Glomus Vagale Paraganglioma 199 Carotid Space Schwannoma 206 Sympathetic Schwannoma 212 Carotid Space Neurofibroma 215 Carotid Space Meningioma 218 Section - Retropharyngeal Space 221 Introduction and Overview 221 Retropharyngeal Space Overview 221 Infectious and Inflammatory Lesions 226 Reactive Adenopathy of Retropharyngeal Space 226 Suppurative Adenopathy of Retropharyngeal Space 229 Retropharyngeal Space Abscess 232 Retropharyngeal Space Edema 238 Metastatic Tumors 244 Nodal SCCa of Retropharyngeal Space 244 Nodal Non-Hodgkin Lymphoma in Retropharyngeal Space 247 Non-SCCa Metastatic Nodes in Retropharyngeal Space 250 Section - Perivertebral Space 253 Introduction and Overview 253 Perivertebral Space Overview 253 Pseudolesions 258 Levator Scapulae Muscle Hypertrophy 258 Infectious and Inflammatory Lesions 261 Acute Calcific Longus Colli Tendonitis 261 Perivertebral Space Infection 264 Vascular Lesions 270 Vertebral Artery Dissection in Neck 270 Benign and Malignant Tumors 273 Brachial Plexus Schwannoma in Perivertebral Space 273 Chordoma in Perivertebral Space 276 Vertebral Body Metastasis in Perivertebral Space 279 Section - Posterior Cervical Space 285 Introduction and Overview 285 Posterior Cervical Space Overview 285 Benign Tumors 288 Posterior Cervical Space Schwannoma 288 Metastatic Tumors 294 SCCa in Spinal Accessory Node 294 Non-Hodgkin Lymphoma in Spinal Accessory Node 297 Section 10 - Visceral Space 300 Introduction and Overview 300 Visceral Space Overview 300 Inflammatory Lesions 305 Chronic Lymphocytic Thyroiditis (Hashimoto) 305 Diagnostic Imaging Head and Neck Metabolic Disease 308 Multinodular Goiter 308 Benign Tumors 314 Thyroid Adenoma 314 Parathyroid Adenoma in Visceral Space 320 Malignant Tumors 326 Differentiated Thyroid Carcinoma 326 Medullary Thyroid Carcinoma 332 Anaplastic Thyroid Carcinoma 338 Non-Hodgkin Lymphoma of Thyroid 344 Parathyroid Carcinoma 347 Cervical Esophageal Carcinoma 350 Miscellaneous 353 Esophagopharyngeal Diverticulum (Zenker) 353 Colloid Cyst of Thyroid 356 Lateral Cervical Esophageal Diverticulum 357 Section 11 - Hypopharynx, Larynx, and Cervical Trachea 359 Introduction and Overview 359 Hypopharynx, Larynx, & Trachea Overview 359 Infectious and Inflammatory Lesions 366 Croup 366 Epiglottitis in a Child 370 Supraglottitis 371 Trauma 372 Laryngeal Trauma 372 Benign and Malignant Tumors 378 Upper Airway Infantile Hemangioma 378 Laryngeal Chondrosarcoma 382 Treatment-related Lesions 387 Post-Radiation Larynx 387 Miscellaneous 391 Laryngocele 391 Vocal Cord Paralysis 396 Acquired Subglottic-Tracheal Stenosis 402 Section 12 - Lymph Nodes 408 Introduction and Overview 408 Lymph Node Overview 408 Infectious and Inflammatory Lesions 414 Reactive Lymph Nodes 414 Suppurative Lymph Nodes 420 Tuberculous Lymph Nodes 426 Non-TB Mycobacterium Nodes 429 Sarcoidosis Lymph Nodes 430 Giant Lymph Node Hyperplasia (Castleman) 432 Histiocytic Necrotizing Lymphadenitis (Kikuchi) 438 Kimura Disease 441 Malignant Tumors 447 Nodal Non-Hodgkin Lymphoma in Neck 447 Nodal Hodgkin Lymphoma in Neck 453 Nodal Differentiated Thyroid Carcinoma 459 Systemic Nodal Metastases in Neck 462 Section 13 - Trans-spatial and Multi-spatial 465 Introduction and Overview 465 Trans-spatial & Multi-spatial Overview 465 Normal Variants 468 Prominent Thoracic Duct in Neck 468 Benign Tumors 471 Lipoma of H&N 471 Hemangiopericytoma of H&N 477 Diagnostic Imaging Head and Neck Plexiform Neurofibroma of H&N 480 Malignant Tumors 483 Post-Transplantation Lymphoproliferative Disorder 483 Extraosseous Chordoma 486 Non-Hodgkin Lymphoma of H&N 489 Liposarcoma of H&N 495 Synovial Sarcoma of H&N 498 Malignant Peripheral Nerve Sheath Tumor of H&N 501 Miscellaneous 504 Lymphocele of Neck 504 Sinus Histiocytosis (Rosai-Dorfman) of H&N 507 Fibromatosis of H&N 510 Section 14 - Oral Cavity 516 Introduction and Overview 516 Oral Cavity Overview 516 Pseudolesions 523 Hypoglossal Nerve Motor Denervation 523 Congenital Lesions 525 Submandibular Space Accessory Salivary Tissue 525 Oral Cavity Dermoid and Epidermoid 528 Oral Cavity Lymphatic Malformation 534 Lingual Thyroid 538 Infectious and Inflammatory Lesions 541 Ranula 541 Oral Cavity Sialocele 546 Submandibular Gland Sialadenitis 549 Oral Cavity Abscess 552 Benign Tumors 558 Submandibular Gland Benign Mixed Tumor 558 Palate Benign Mixed Tumor 561 Malignant Tumors 564 Sublingual Gland Carcinoma 564 Submandibular Gland Carcinoma 567 Oral Cavity Minor Salivary Gland Malignancy 570 Submandibular Space Nodal Non-Hodgkin Lymphoma 573 Submandibular Space Nodal SCCa 576 Section 15 - Mandible-Maxilla and Temporomandibular Joint 579 Introduction and Overview 579 Mandible-Maxilla and TMJ Overview 579 Congenital Lesions 586 Solitary Median Maxillary Central Incisor 586 Nonneoplastic Cysts 589 Nasolabial Cyst 589 Periapical Cyst (Radicular) 592 Dentigerous Cyst 595 Simple Bone Cyst (Traumatic) 598 Nasopalatine Duct Cyst 601 Infectious and Inflammatory Lesions 604 TMJ Juvenile Idiopathic Arthritis 604 Mandible-Maxilla Osteomyelitis 607 Tumor-like Lesions 610 TMJ Calcium Pyrophosphate Dihydrate Deposition Disease 610 TMJ Pigmented Villonodular Synovitis 611 TMJ Synovial Chondromatosis 613 Mandible-Maxilla Central Giant Cell Granuloma 615 Benign and Malignant Tumors 619 Ameloblastoma 619 Keratocystic Odontogenic Tumor (Odontogenic Keratocyst) 624 Mandible-Maxilla Osteosarcoma 630 Diagnostic Imaging Head and Neck Treatment-related Lesions 634 Mandible-Maxilla Osteonecrosis 634 Part II - Squamous Cell Carcinoma 636 Section - Introduction and Overview 636 Squamous Cell Carcinoma Overview 636 Section - Primary Sites, Perineural Tumor and Nodes 644 Nasopharyngeal Carcinoma 644 Nasopharyngeal Carcinoma 644 Oropharyngeal Carcinoma 650 Lingual Tonsil SCCa 650 Palatine Tonsil SCCa 656 Posterior Oropharyngeal Wall SCCa 662 HPV-Related Oropharyngeal SCCa 664 Oral Cavity Carcinoma 665 Oral Tongue SCCa 665 Floor of Mouth SCCa 671 Alveolar Ridge SCCa 675 Retromolar Trigone SCCa 678 Buccal Mucosa SCCa 681 Hard Palate SCCa 682 Hypopharyngeal Carcinoma 683 Pyriform Sinus SCCa 683 Post-Cricoid Region SCCa 689 Posterior Hypopharyngeal Wall SCCa 691 Laryngeal Carcinoma 692 Supraglottic Laryngeal SCCa 692 Glottic Laryngeal SCCa 698 Subglottic Laryngeal SCCa 701 Perineural Tumor 705 Perineural Tumor Spread 705 Squamous Cell Carcinoma Lymph Nodes 710 Nodal Squamous Cell Carcinoma 710 Section - Post-Treatment Neck 716 Nodal Dissection in Neck 716 Reconstruction Flaps in Neck 719 Expected Changes of Neck Radiation Therapy 722 Complications of Neck Radiation Therapy 723 Part III - Pediatric and Syndromic Diseases 725 Section - Pediatric Lesions 725 Introduction and Overview 725 Congenital Overview 725 Congenital Lesions 730 Lymphatic Malformation 730 Venous Malformation 736 Congenital Vallecular Cyst 742 Thyroglossal Duct Cyst 745 Cervical Thymic Cyst 751 1st Branchial Cleft Cyst 757 2nd Branchial Cleft Cyst 763 3rd Branchial Cleft Cyst 769 4th Branchial Cleft Cyst 775 Dermoid and Epidermoid 781 Trauma 787 Fibromatosis Colli 787 Benign Tumors 790 Infantile Hemangioma 790 Malignant Tumors 796 Rhabdomyosarcoma 796 Primary Cervical Neuroblastoma 802 Diagnostic Imaging Head and Neck Metastatic Neuroblastoma 803 Section - Syndromic Diseases 805 Neurofibromatosis Type 805 Neurofibromatosis Type 810 Basal Cell Nevus Syndrome 813 PHACES Association 816 Branchiootorenal Syndrome 822 Hemifacial Microsomia 828 Treacher Collins Syndrome 830 Pierre Robin Sequence 831 McCune-Albright Syndrome 834 Cherubism 836 Mucopolysaccharidosis 837 Part IV - Sinonasal Cavities and Orbit 841 Section - Nose and Sinus 841 Introduction and Overview 841 Sinonasal Overview 841 Congenital Lesions 848 Nasolacrimal Duct Mucocele 848 Choanal Atresia 851 Nasal Glioma 857 Nasal Dermal Sinus 863 Frontoethmoidal Cephalocele 869 Congenital Nasal Pyriform Aperture Stenosis 875 Infectious and Inflammatory Lesions 878 Acute Rhinosinusitis 878 Chronic Rhinosinusitis 883 Complications of Rhinosinusitis 889 Allergic Fungal Sinusitis 895 Mycetoma 898 Invasive Fungal Sinusitis 901 Sinonasal Polyposis 907 Solitary Sinonasal Polyp 913 Sinonasal Mucocele 918 Silent Sinus Syndrome 924 Sinonasal Wegener Granulomatosis 927 Nasal Cocaine Necrosis 932 Benign Tumors and Tumor-like Lesions 935 Sinonasal Fibrous Dysplasia 935 Sinonasal Osteoma 938 Sinonasal Ossifying Fibroma 944 Juvenile Angiofibroma 950 Sinonasal Inverted Papilloma 956 Sinonasal Hemangioma 961 Sinonasal Nerve Sheath Tumor 965 Sinonasal Benign Mixed Tumor 966 Malignant Tumors 967 Sinonasal Squamous Cell Carcinoma 967 Esthesioneuroblastoma 973 Sinonasal Adenocarcinoma 979 Sinonasal Melanoma 982 Sinonasal Non-Hodgkin Lymphoma 985 Sinonasal Undifferentiated Carcinoma 991 Sinonasal Adenoid Cystic Carcinoma 993 Sinonasal Chondrosarcoma 994 Sinonasal Osteosarcoma 996 Section - Orbit 997 Introduction and Overview 997 Orbit Overview 997 Diagnostic Imaging Head and Neck Congenital Lesions 1002 Coloboma 1002 Persistent Hyperplastic Primary Vitreous 1009 Coats Disease 1012 Orbital Dermoid and Epidermoid 1015 Orbital Neurofibromatosis Type 1021 Vascular Lesions 1027 Orbital Lymphatic Malformation 1027 Orbital Venous Varix 1033 Orbital Cavernous Hemangioma 1036 Infectious and Inflammatory Lesions 1042 Ocular Toxocariasis 1042 Orbital Subperiosteal Abscess 1045 Orbital Cellulitis 1051 Orbital Idiopathic Inflammatory Pseudotumor 1055 Orbital Sarcoidosis 1060 Thyroid Ophthalmopathy 1064 Optic Neuritis 1070 Tumor-like Lesions 1076 Orbital Langerhans Cell Histiocytosis 1076 Benign Tumors 1080 Orbital Infantile Hemangioma 1080 Optic Pathway Glioma 1085 Optic Nerve Sheath Meningioma 1091 Lacrimal Gland Benign Mixed Tumor 1097 Malignant Tumors 1101 Retinoblastoma 1101 Ocular Melanoma 1107 Orbital Lymphoproliferative Lesions 1113 Lacrimal Gland Carcinoma 1119 Part V - Skull Base 1122 Section - Skull Base Lesions 1122 Introduction and Overview 1122 Skull Base Overview 1122 Clivus 1128 Ecchordosis Physaliphora 1128 Invasive Pituitary Macroadenoma 1131 Chordoma 1134 Sphenoid Bone 1140 Persistent Craniopharyngeal Canal 1140 Sphenoid Benign Fatty Lesion 1143 Central Skull Base Trigeminal Schwannoma 1145 Occipital Bone 1146 Hypoglossal Nerve Schwannoma 1146 Jugular Foramen 1149 Jugular Bulb Pseudolesion 1149 High Jugular Bulb 1152 Dehiscent Jugular Bulb 1155 Jugular Bulb Diverticulum 1158 Glomus Jugulare Paraganglioma 1161 Jugular Foramen Schwannoma 1167 Jugular Foramen Meningioma 1173 Dural Sinuses 1176 Dural Sinus & Aberrant Arachnoid Granulations 1176 Skull Base Dural Sinus Thrombosis 1181 Cavernous Sinus Thrombosis 1187 Dural AV Fistula 1191 Diffuse or Multifocal Skull Base Disease 1196 Skull Base Cephalocele 1196 Diagnostic Imaging Head and Neck Skull Base CSF Leak 1202 Skull Base Fibrous Dysplasia 1205 Skull Base Paget Disease 1210 Skull Base Langerhans Cell Histiocytosis 1213 Skull Base Osteopetrosis 1219 Skull Base Idiopathic Inflammatory Pseudotumor 1222 Skull Base Giant Cell Tumor 1228 Skull Base Meningioma 1231 Skull Base Plasmacytoma 1237 Skull Base Multiple Myeloma 1243 Skull Base Metastasis 1246 Skull Base Chondrosarcoma 1249 Skull Base Osteosarcoma 1255 Section - Skull Base and Facial Trauma 1258 Introduction and Overview 1258 Skull Base and Facial Trauma Overview 1258 Introduction and Overview 1263 Temporal Bone Trauma 1263 Skull Base Trauma 1268 Introduction and Overview 1274 Orbital Foreign Body 1274 Orbital Blowout Fracture 1277 Trans-facial Fracture (Le Fort) 1280 Zygomaticomaxillary Complex Fracture 1285 Complex Facial Fracture 1288 Naso-orbital-ethmoidal Fracture 1290 Mandible Fracture 1291 TMJ Meniscal Dislocation 1294 Part VI - Temporal Bone and CPA-IAC 1297 Section - Introduction and Overview 1297 Temporal Bone Overview 1297 Section - External Auditory Canal 1304 Congenital Lesions 1304 Congenital External Ear Dysplasia 1304 Infectious and Inflammatory Lesions 1310 Necrotizing External Otitis 1310 Keratosis Obturans 1314 Medial Canal Fibrosis 1316 EAC Cholesteatoma 1322 Benign and Malignant Tumors 1325 EAC Osteoma 1325 EAC Exostoses 1328 EAC Skin SCCa 1331 Section - Middle Ear-Mastoid 1334 Congenital Lesions 1334 Congenital Middle Ear Cholesteatoma 1334 Congenital Mastoid Cholesteatoma 1340 Congenital Ossicular Fixation 1341 Oval Window Atresia 1343 Lateralized Internal Carotid Artery 1346 Aberrant Internal Carotid Artery 1348 Persistent Stapedial Artery 1354 Infectious and Inflammatory Lesions 1358 Acute Otomastoiditis with Abscess 1358 Coalescent Otomastoiditis 1363 Chronic Otomastoiditis with Ossicular Erosions 1367 Chronic Otomastoiditis with Tympanosclerosis 1369 Pars Flaccida Cholesteatoma 1373 Pars Tensa Cholesteatoma 1378 Diagnostic Imaging Head and Neck Mural Cholesteatoma 1384 Middle Ear Cholesterol Granuloma 1387 Benign and Malignant Tumors 1393 Glomus Tympanicum Paraganglioma 1393 Temporal Bone Meningioma 1399 Middle Ear Schwannoma 1405 Middle Ear Adenoma 1409 Temporal Bone Rhabdomyosarcoma 1412 Miscellaneous 1417 Temporal Bone Cephalocele 1417 Ossicular Prosthesis 1420 Section - Inner Ear 1426 Pseudolesions 1426 Subarcuate Canaliculus 1426 Cochlear Cleft 1429 Congenital Lesions 1433 Labyrinthine Aplasia 1433 Common Cavity Malformation 1435 Cystic Cochleovestibular Malformation (IP-I) 1438 Cochlear Incomplete Partition Type I (IP-I) 1441 Large Vestibular Aqueduct (IP-II) 1444 X-Linked Stapes Gusher (DFNX2) 1450 Cochlear Aplasia 1453 Cochlear Hypoplasia 1456 Cochlear Nerve & Cochlear Nerve Canal Aplasia-Hypoplasia 1459 Globular Vestibule-Semicircular Canal 1462 Semicircular Canal Hypoplasia-Aplasia 1463 CHARGE Syndrome 1465 Infectious and Inflammatory Lesions 1470 Labyrinthitis 1470 Otosyphilis 1474 Labyrinthine Ossificans 1477 Otosclerosis 1482 Benign and Malignant Tumors 1487 Intralabyrinthine Schwannoma 1487 Endolymphatic Sac Tumor 1493 Miscellaneous 1496 Intralabyrinthine Hemorrhage 1496 Semicircular Canal Dehiscence 1499 Cochlear Implants 1502 Section - Petrous Apex 1508 Pseudolesions 1508 Petrous Apex Asymmetric Marrow 1508 Petrous Apex Cephalocele 1511 Congenital Lesions 1514 Congenital Petrous Apex Cholesteatoma 1514 Infectious and Inflammatory Lesions 1520 Petrous Apex Trapped Fluid 1520 Petrous Apex Mucocele 1523 Petrous Apex Cholesterol Granuloma 1526 Apical Petrositis 1532 Vascular Lesions 1538 Petrous Apex ICA Aneurysm 1538 Section - Intratemporal Facial Nerve 1541 Pseudolesions 1541 Intratemporal Facial Nerve Enhancement 1541 Middle Ear Prolapsing Facial Nerve 1544 Infectious and Inflammatory Lesions 1547 Bell Palsy 1547 10 Diagnostic Imaging Head and Neck Coronal: Differentiate bulbous VA from jugular vein SELECTED REFERENCES Amin S et al: Incudomalleal joint formation: the roles of apoptosis, migration and downregulation BMC Dev Biol 7:134, 2007 Kochhar A et al: Branchio-oto-renal syndrome Am J Med Genet A 143A(14):1671-8, 2007 P.III(2):16 Image Gallery (Left) Axial bone CT in a 4-year-old boy with BOR shows dilatation of an anomalous eustachian tube , terminating in the sphenoid bone Some mastoid air cells are opacified (Right) Coronal bone CT in a 12-year-old boy with BOR shows angulation of the right EAC and petrous bones The right ossicles are malformed and malpositioned in the partially opacified attic The left EAC is atretic The left middle ear cavity is partially opacified Jugular bulbs are high riding (Left) Axial bone CT in a 5-year-old girl with BOR shows anterior ligament ossification fusing the malleus to the attic Note the hypoplastic middle turn of the cochlea , with an absent modiolus The vestibular aqueduct is dilated and funnel-shaped (Right) Coronal bone CT in a 10-year-old boy with preauricular pits & mixed hearing loss shows fusion of malleus to incus & fusion of ossicles to the scutum Note the horizontal orientation of the cochlear basal turn 826 Diagnostic Imaging Head and Neck (Left) Axial HRCT in the same 10-year-old boy demonstrates mild tapering of the cochlear basal turn Only a small segment of the inferior limb of the posterior SCC is present The superior limb is absent (Right) Axial bone CT in a 19-month-old boy with the EYA1 mutation shows hypoplasia of the middle and apical turns of the cochlea , which lack internal septation and appear offset anteriorly from the basal turn P.III(2):17 (Left) Axial bone CT in a 5-year-old girl with hearing loss & BOR reveals characteristic hypoplastic middle and apical turns of the cochlea , which is offset anteriorly Bulbous enlargement of the vestibular aqueduct is also seen (Right) Coronal bone CT in a 5-year-old boy shows the utility of the coronal image in distinguishing the dilated vestibular aqueduct above from the jugular fossa below Note the hypoplastic posterior SCC 827 Diagnostic Imaging Head and Neck (Left) Axial bone CT in the same patient demonstrates the broad and funnel-shaped internal auditory meatus Note also the typical hypoplastic middle and apical turns of the cochlea and rounded enlargement of the vestibular aqueduct (Right) Sagittal reformatted CT in a 14-year-old boy with BOR demonstrates the bulbous morphology of the IAC (Left) Axial bone CT in a 19-month-old patient with hearing loss and preauricular pits demonstrates an anomalous posterior semicircular canal The canal for the superior vestibular nerve is identified However, the labyrinthine segment of cranial nerve VII is not seen on this image, as it would be in a normal exam (Right) Axial bone CT in the same patient, more cephalad image, shows the anomalous labyrinthine segment of the facial nerve and obtuse angle of the anterior genu Hemifacial Microsomia > Table of Contents > Part III - Pediatric and Syndromic Diseases > Section - Syndromic Diseases > Hemifacial Microsomia Hemifacial Microsomia Caroline D Robson, MBChB Key Facts Terminology Oculoauriculovertebral spectrum, Goldenhar syndrome, facioauriculovertebral sequence Defect of 1st & 2nd branchial arch derivatives Imaging Mandibular hypoplasia 828 Diagnostic Imaging Head and Neck Unilateral > bilateral asymmetric Zygomatic arch hypoplasia Hypoplasia muscles of mastication & parotid gland EAC atresia/stenosis Middle ear hypoplasia Ossicular anomalies/fusion Oval window atresia & CN7 anomaly/hypoplasia Inner ear anomalies (occasional) Cervical spine fusion/segmentation anomalies (Klippel-Feil anomaly) CNS (variable): Ventriculomegaly, brainstem cleft, cerebellar hypoplasia, cephalocele Top Differential Diagnoses Teratogenic embryopathy (e.g., thalidomide, diabetes), 22q11 deletion Clinical Issues Microtia/anotia, preauricular skin tags Facial asymmetry TEF, cardiac, renal, pulmonary abnormalities Hearing loss (≈ 85%; CHL > > SNHL) Facial nerve weakness (≈ 50%) Diagnostic Checklist HFM causes facial asymmetry & external ear anomalies Oval window atresia & CN VII anomaly/hypoplasia cause facial weakness (Left) 3D CT in a 7-year-old girl with HFM reveals a smaller left hemimandible , hypoplasia of the zygomatic arch , underdevelopment of the mastoid process , and external auditory canal atresia (Right) Axial NECT in a 4-yearold girl with HFM demonstrates a smaller left mandibular ramus , a preauricular sinus tract, and skin tag The left muscles of mastication are underdeveloped and the masticator muscle and parotid tissue are not seen in their expected location 829 Diagnostic Imaging Head and Neck (Left) Axial bone CT in a 23-month-old boy with HFM shows the right middle ear cavity is hypoplastic and opacified The ossicles are dysmorphic The right eustachian tube is dilated and anomalous The right sphenosquamosal suture is rotated laterally compared with the left (Right) Coronal bone CT in the same patient shows absent mastoid pneumatization , oval window atresia , and an anomalous course of the tympanic segment of CN VII , located along the promontory Treacher Collins Syndrome > Table of Contents > Part III - Pediatric and Syndromic Diseases > Section - Syndromic Diseases > Treacher Collins Syndrome Treacher Collins Syndrome Caroline D Robson, MBChB Key Facts Terminology  Treacher Collins syndrome (TCS)  Treacher Collins-Franceschetti syndrome (TCOF) Imaging  T-bone findings o External auditory canal (EAC) stenosis/atresia o Decreased/absent mastoid pneumatization o Hypoplastic/atretic middle ear space o Malformed, fused, or absent ossicles o Oval window stenosis/atresia o Normal or malformed cochlea (flattened turns) o Normal or malformed horizontal semicircular canal & vestibule  Symmetric micrognathia, zygomatic/malar hypoplasia  Coloboma Top Differential Diagnoses  Bilateral facial microsomia  Nager syndrome  Congenital external ear dysplasia  Branchiootorenal syndrome Pathology  Autosomal dominant, phenotypic variability  Gene map locus: 5q32-q33.1  TCOF1 gene mutations o Results in defect in nucleolar trafficking protein required during craniofacial development Clinical Issues  Airway obstruction, deafness  Treatment: Airway support, reconstructive surgery, hearing aids, developmental support 830 Diagnostic Imaging Head and Neck (Left) Anteroposterior 3D CT in a 13-year-old girl with Treacher Collins syndrome (TCS) demonstrates bilateral symmetric malar concavity and micrognathia (Right) Lateral 3D CT in the same patient shows micrognathia with a small mandibular condyle & an obtuse mandibular angle The inferior border of the mandibular body is concave There is marked hypoplasia of the zygomatic complex , and the zygomatic arch fails to meet the calvarium posteriorly There is also atresia of the external auditory meatus (Left) Axial bone CT in the same patient shows zygomatic complex hypoplasia with posteriorly slanted maxillae , absent zygomatic arches , & hypoplastic mandibular condyles Note EAC atresia, absent mastoid pneumatization, & enlarged mastoid emissary vein (Right) Axial bone CT in a 16-year-old girl with TCS shows EAC atresia, absent middle ear space & ossicles, ventrally placed descending CN7 canal , prominent vestibule ,& malformed horizontal semicircular canal Pierre Robin Sequence > Table of Contents > Part III - Pediatric and Syndromic Diseases > Section - Syndromic Diseases > Pierre Robin Sequence Pierre Robin Sequence Caroline D Robson, MBChB Key Facts Terminology Pierre Robin sequence (PRS) Micrognathia or retrognathia, glossoptosis, respiratory distress, ± posterior U-shaped cleft palate Imaging 831 Diagnostic Imaging Head and Neck Bilateral symmetric micrognathia Elevated, posteriorly displaced tongue Posterior U-shaped cleft palate Additional features depend on syndromic etiology Top Differential Diagnoses Stickler & related syndromes (18% of PRS) Velocardiofacial syndrome (VCFS) (7% of PRS) Treacher Collins syndrome (5% of PRS) Pathology Collagen (COL) gene mutations: Stickler syndromes 22q11.2 deletion: Velocardiofacial syndrome 17q24; SOX9 regulatory mutations: PRS locus Primary micrognathia → glossoptosis → failure of palatal shelf elevation ± fusion Clinical Issues Feeding & breathing difficulties, failure to thrive Stickler: Progressive myopia, joint degeneration VCFS: Cardiac anomalies, adenoidal hypoplasia, velopharyngeal insufficiency, learning difficulties Neonatal treatment: Prone position, respiratory & nutritional support, mandibular distraction osteogenesis Diagnostic Checklist Consider Stickler syndrome: Familial myopia, premature joint degeneration Consider VCFS: Adenoidal hypoplasia, medial deviation of cervical internal carotid arteries (Left) Lateral 3D reformation of a 3-week-old girl with Pierre Robin sequence shows moderate, symmetric micrognathia Note that the zygomatic arch and external auditory canal are present (Right) Sagittal CT reconstruction in the same patient reveals a shortened hard palate and glossoptosis (abnormal downward or backward displacement of the tongue) The tongue protrudes above and behind the palate and obstructs the oropharynx 832 Diagnostic Imaging Head and Neck (Left) Axial bone CT in the same patient shows a U-shaped cleft palate caused by micrognathia, glossoptosis (abnormal downward or backward displacement of the tongue) , and failure of development and migration of the palatal shelves (Right) Axial NECT in the same patient reveals large globes and shallow orbits A phenotypic diagnosis of Marshall syndrome (Stickler-like syndrome) was confirmed following detection of a mutation in the COL11A1 gene P.III(2):21 TERMINOLOGY Abbreviations Pierre Robin sequence (PRS) Synonyms Robin sequence Definitions Micrognathia or retrognathia, glossoptosis, respiratory distress, ± posterior U-shaped cleft palate Developmental sequence: Malformation → subsequent derived structural changes IMAGING General Features Best diagnostic clue Bilateral symmetric micrognathia, posterior cleft palate Location Mandible, palate, tongue CT Findings Bone CT Bilateral symmetric micrognathia Elevated, posteriorly displaced tongue Posterior U-shaped cleft palate Additional features depend on syndromic etiology MR Findings Micrognathia Elevated, posteriorly displaced tongue Posterior U-shaped cleft palate Velocardiofacial syndrome: Medial deviation of internal carotid arteries (ICAs), polymicrogyria (occasional) Imaging Recommendations Best imaging tool CT or MR as required DIFFERENTIAL DIAGNOSIS Stickler & Related Syndromes Most common syndromes with PRS Velocardiofacial Syndrome (VCFS) Relatively common syndrome with PRS Treacher Collins Syndrome 833 Diagnostic Imaging Head and Neck Ear anomalies & zygomatic hypoplasia distinguish from PRS PATHOLOGY General Features Genetics Identifiable syndrome ≈ 46% Collagen (COL) gene mutations: Stickler & related syndromes Most forms autosomal dominant 22q11.2 deletion; TBX1 gene: Velocardiofacial syndrome (VCFS) Autosomal dominant 17q24; loss-of-function SOX9 mutation: Campomelic dysplasia 17q24; putative SOX9 regulatory mutations: PRS locus Gross Pathologic & Surgical Features Primary micrognathia → glossoptosis → failure of palatal shelf elevation ± fusion CLINICAL ISSUES Presentation Most common signs/symptoms PRS: per 2,000-10,000 neonates Feeding & breathing difficulties, failure to thrive Cardiac anomalies Other signs/symptoms Stickler syndrome Progressive myopia, retinal detachment, & blindness Premature joint degeneration, joint laxity Hearing loss Velocardiofacial syndrome Characteristic facial dysmorphism Learning disabilities, schizophrenia/psychiatric illness Cardiac anomalies Adenoidal hypoplasia Velopharyngeal insufficiency Hypernasal speech Slender hands & digits Campomelic dysplasia: Bowing & angulation long bones Natural History & Prognosis Varies with severity & etiology Treatment Airway support: Prone position, intubation, tracheotomy Nutritional support Palatal repair Mandibular distraction osteogenesis Pharyngeal surgery for velopharyngeal insufficiency DIAGNOSTIC CHECKLIST Consider Stickler syndrome if + familial myopia VCFS if adenoidal hypoplasia, medial deviation of ICAs Image Interpretation Pearls Look for medial deviation of cervical ICAs in VCFS SELECTED REFERENCES Benko S et al: Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence Nat Genet 41(3):359-64, 2009 Evans AK et al: Robin sequence: a retrospective review of 115 patients Int J Pediatr Otorhinolaryngol 70(6):973-80, 2006 McCune-Albright Syndrome > Table of Contents > Part III - Pediatric and Syndromic Diseases > Section - Syndromic Diseases > McCune-Albright Syndrome McCune-Albright Syndrome Bernadette L Koch, MD Key Facts 834 Diagnostic Imaging Head and Neck Terminology McCune-Albright syndrome (MAS) Subtype of polyostotic fibrous dysplasia (FD) Classic triad: Polyostotic FD, endocrine dysfunction, & cutaneous hyperpigmentation Imaging Best diagnostic clues: Expanded “ground-glass” bone in child with precocious puberty & skin lesions Locations in H&N: Skull, skull base, or facial bones Bilateral and asymmetric common CT: Imaging appearance depends on degree of fibrous vs osseous components “Ground-glass” = sclerotic Mixed (pagetoid): Radiodensity & radiolucency Cystic: Central lucency with thin sclerotic margins Variable enhancement of fibrous component MR: Majority ↓ T1, intermediate or ↓ signal T2 Rim ↓ signal T2 & central ↑ T2 in cystic lesions Fibrous component may enhance intensely Top Differential Diagnoses Monostotic fibrous dysplasia Polyostotic fibrous dysplasia without MAS Jaffe-Campanacci (J-C) syndrome Nonossifying fibromas, axillary freckling, and café au lait skin lesions, without neurofibromas Caffey disease: Usually < months of age Acute onset fever + hot, tender swelling of bones Cherubism Familial bilateral, symmetric FD of jaw Garré sclerosing osteomyelitis Bony expansion, heterogeneous sclerotic pattern Mazabraud syndrome Polyostotic FD + intramuscular myxoma (Left) Axial bone CT in a 7-year-old girl with McCune-Albright syndrome shows multiple areas of fibrous dysplasia with the typical expanded “ground-glass” appearance of lesions in the sclerotic stage (Right) Coronal bone CT in the same child shows more extensive involvement of the skull base and typical narrowing of skull base foramina Despite significant narrowing of both optic canals , the child had only mild left-sided optic neuropathy with decreased vision and intermittent diplopia 835 Diagnostic Imaging Head and Neck (Left) Axial T2WI MR in a teenager with a frontal bone fibrous dysplasia lesion shows marked hypointensity within the majority of the expansile, sclerotic frontal bones , with patchy hyperintensity typical of a small area of more active fibrous matrix (Right) Axial T1WI C+ fat-saturated MR in the same patient shows heterogeneous enhancement in the more active, fibrous component of fibrous dysplasia This area was more lucent on CT (not shown) Cherubism > Table of Contents > Part III - Pediatric and Syndromic Diseases > Section - Syndromic Diseases > Cherubism Cherubism Bernadette L Koch, MD Key Facts Terminology Familial, bilateral fibroosseous jaw lesions Genetically distinct from fibrous dysplasia (FD) Imaging Bilateral multilocular, expansile lucent lesions in mandible, displacing teeth ± submandibular lymph node enlargement Top Differential Diagnoses Fibrous dysplasia “Ground-glass,” mixed cystic & sclerotic, or cystic Central giant cell granuloma Expansile lesion with variable septations McCune-Albright syndrome Subtype of polyostotic fibrous dysplasia Classic triad of polyostotic FD, precocious puberty, & cutaneous hyperpigmentation Pathology Autosomal dominant Cherubism also reported in patients with Ramon syndrome, Noonan syndrome, & neurofibromatosis type Clinical Issues Painless symmetric, swelling of lower face Round face and lower eyelid retraction → “eyes raised to heaven” or cherub-like appearance Begins 14 months to years of age Progresses through puberty, then stabilizes May regress in adulthood Clinical swelling usually abates by 3rd decade Radiographic changes seen until 4th decade Treatment: Conservative curettage may improve chances of normal dentition and aesthetics 836 Diagnostic Imaging Head and Neck (Left) Axial bone CT in a 17-year-old boy shows bilateral bubbly, expansile lesions confined to the mandible, a typical appearance of cherubism Notice there are areas where the cortex appears to disappear without aggressive bone destruction or periosteal reaction (Right) Lateral 3D reconstructions shows the diffuse expansion of the left mandible secondary to the multiple bone cysts (Courtesy J Cure, MD.) (Left) Axial bone CT in a 4-year-old boy who presented with gradual increase in facial swelling shows bilateral cystic lesions in the mandible with several areas of diffuse cortical thinning, without aggressive bone destruction or periosteal reaction, typical of cherubism (Right) Coronal bone CT in the same patient shows the multiloculated cystic, symmetric bilateral mandible lesions causing expansion of both sides of the mandible Mucopolysaccharidosis > Table of Contents > Part III - Pediatric and Syndromic Diseases > Section - Syndromic Diseases > Mucopolysaccharidosis Mucopolysaccharidosis Bernadette L Koch, MD Key Facts Terminology Heterogeneous group of inherited disorders of metabolism Specific lysosomal enzyme deficiency → inability to break down glycosaminoglycans (GAGs), or mucopolysaccharides Accumulation of partially degraded GAGs → interference with cell, tissue, & organ function Imaging Skull & face findings 837 Diagnostic Imaging Head and Neck Macrocrania Thickened skull base Large J-shaped sella Macroglossia Stylohyoid ligament thick Ca++/ossification Underpneumatized mastoid air cells Flat or concave mandibular condyle, TMJ ankylosis Craniocervical junction: Dens hypoplasia (95%), atlantoaxial instability, CVJ stenosis Brain findings Hydrocephalus Large GAG-filled perivascular spaces Top Differential Diagnoses Down syndrome ± dens hypoplasia without soft tissue dens mass or marrow deposition features Achondroplasia Autosomal dominant, abnormal enchondral bone formation Short broad pedicle & thick laminae → spinal stenosis Spondyloepiphyseal dysplasia Flattened vertebral bodies, dens hypoplasia, scoliosis may be present at birth (Left) Lateral radiograph in a 2-year-old boy with Hurler syndrome shows increased predental space , hypoplastic dens, J-shaped sella , macroglossia , and shunt catheter for treatment of hydrocephalus (Right) Sagittal T2WI MR in a 7-year-old girl with Hurler syndrome shows typical soft tissue “mass” at tip of hypoplastic dens, hypoplastic posterior ring C1 , & dural thickening causing minimal cord compression and multiple bullet-shaped vertebrae 838 Diagnostic Imaging Head and Neck (Left) Anteroposterior 3D reformation in a 4-year-old girl with Hurler syndrome shows thick bilateral stylohyoid ligament ossification and dens hypoplasia (Right) Coronal bone CT in a 3-year-old boy with Morquio syndrome shows bilateral mandibular condyle flattening and cortical irregularity P.III(2):25 TERMINOLOGY Abbreviations Mucopolysaccharidoses (MPS) Definitions Heterogeneous group of inherited disorders of metabolism Specific lysosomal enzyme deficiency → inability to break down glycosaminoglycans (GAGs) or mucopolysaccharides Accumulation of partially degraded GAGs → interference with cell, tissue, & organ function IMAGING General Features Best diagnostic clue J-shaped sella in child with macrocrania, cervical stenosis, and enlarged perivascular spaces in brain Location Skull & face Craniovertebral junction (CVJ) Brain CT Findings Skull & face Macrocrania ± premature suture fusion Metopic or sagittal sutures Thickened skull base Large J-shaped sella Macroglossia Stylohyoid ligament calcification Craniovertebral junction (CVJ) Dens hypoplasia (95%) CVJ stenosis Ligamentous laxity Atlantoaxial instability MR Findings Dens hypoplasia, CVJ stenosis, AO instability Thickened dural ring at foramen magnum & C2 CSF signal intensity in large perivascular spaces in cerebral white matter, basal ganglia, and brainstem Accumulation of GAGs within foam cells in Virchow-Robin spaces Imaging Recommendations 839 Diagnostic Imaging Head and Neck Best imaging tool Skeletal series to assess associated skeletal abnormalities (thick ribs, lumbar gibbus, etc.) MR brain and CVJ DIFFERENTIAL DIAGNOSIS Down Syndrome (Trisomy 21) ± dens hypoplasia without soft tissue dens mass or marrow deposition features Achondroplasia Autosomal dominant disorder of enchondral bone formation Short broad pedicle & thick laminae → spinal stenosis Spondyloepiphyseal Dysplasia Flattened vertebral bodies, dens hypoplasia, scoliosis may be present at birth GM1 Gangliosidosis Shares features of vertebral beaking, upper lumbar gibbus, and dens hypoplasia PATHOLOGY General Features Etiology Accumulation of GAGs in most organs/ligaments Genetics Autosomal recessive (except MPS Hunter X-linked) Staging, Grading, & Classification MPS I-IX, depends on enzyme deficiency MPS I-H (Hurler), I-S (Scheie), I-HS (Hurler-Scheie): α-L-iduronidase (4p16.3) MPS II (Hunter): Iduronate 2-sulfatase (Xq28) MPS IIIA (Sanfillipo): Heparin N-sulfatase (17q25.3) MPS IVA (Morquio): Galactose 6-sulfatase (16q24.3) MPS V now classified as MPS I-S MPS VI (Maroteaux-Lamy): Arylsulfatase B (5q11-q13) MPS VII (Sly): β-glucuronidase MPS IX: Hyaluronidase CLINICAL ISSUES Presentation Most common signs/symptoms Coarse facies at 3-6 months (mild in MPS 3, 6, 7) Macroglossia, bushy eyebrows, flat nasal bridge (mild in MPS VI, VII), thick lips, mouth held open after age years Demographics Age Diagnosed in childhood (rare mild form diagnosed in adult); MPS 1H (Hurler) presents in infancy Natural History & Prognosis Premature death is the rule (except MPS I-S); varies with enzyme deficiency Life span MPS I < 10 years, MPS II ≈ 15 years Treatment Surgery for more severe symptoms Posterior occipitocervical decompression/stabilization Transoral odontoid resection/posterior stabilization for symptomatic odontoid mass effect Bone marrow transplant (BMT) or IV recombinant human enzyme Decreases GAGs accumulation in organs; ameliorates some but not all manifestations SELECTED REFERENCES Muenzer J et al: Mucopolysaccharidosis I: management and treatment guidelines Pediatrics 123(1):19-29, 2009 Murata R et al: MR imaging of the brain in patients with mucopolysaccharidosis AJNR Am J Neuroradiol 10(6):1165-70, 1989 840 ... 11 87 Dural AV Fistula 11 91 Diffuse or Multifocal Skull Base Disease 11 96 Skull Base Cephalocele 11 96 Diagnostic Imaging Head and Neck Skull... vs second editions Diagnostic Imaging: Head and Neck: o New pages = 200 o New diagnoses = 12 0 o New color graphics = 300 o eBook images = 17 00 15 Diagnostic Imaging Head and Neck o o New prose... Roentgenol 15 7 (1) :14 7-54, 19 91 Smoker WR et al: Differential diagnosis of head and neck lesions based on their space of origin The infrahyoid portion of the neck AJR Am J Roentgenol 15 7 (1) :15 5-9, 19 91