Orbital magnetic resonance imaging of giant cell arteritis with ocular manifestations: a systematic review and individual participant data meta-analysis.

OBJECTIVES: We conducted a systematic review and individual participant data meta-analysis of publications reporting the ophthalmologic presentation, clinical exam, and orbital MRI findings in patients with giant cell arteritis and ocular manifestations. METHODS: PubMed and Cochrane databases were searched up to January 16, 2022. Publications reporting patient-level data on patients with ophthalmologic symptoms, imaged with orbital MRI, and diagnosed with biopsy-proven giant cell arteritis were included. Demographics, clinical symptoms, exam, lab, imaging, and outcomes data were extracted. The methodological quality and completeness of reporting of case reports were assessed. RESULTS: Thirty-two studies were included comprising 51 patients (females = 24; median age, 76 years). Vision loss (78%) and headache (45%) were commonly reported visual and cranial symptoms. Ophthalmologic presentation was unilateral (41%) or bilateral (59%). Fundus examination most commonly showed disc edema (64%) and pallor (49%). Average visual acuity was very poor (2.28 logMAR ± 2.18). Diagnoses included anterior (61%) and posterior (16%) ischemic optic neuropathy, central retinal artery occlusion (8%), and orbital infarction syndrome (2%). On MRI, enhancement of the optic nerve sheath (53%), intraconal fat (25%), and optic nerve/chiasm (14%) was most prevalent. Among patients with monocular visual symptoms, 38% showed pathologic enhancement in the asymptomatic orbit. Six of seven cases reported imaging resolution after treatment on follow-up MRIs. CONCLUSIONS: Vision loss, pallid disc edema, and optic nerve sheath enhancement are the most common clinical, fundoscopic, and imaging findings reported in patients diagnosed with giant cell arteritis with ocular manifestations, respectively. MRI may detect subclinical inflammation and ischemia in the asymptomatic eye and may be an adjunct diagnostic tool. CLINICAL RELEVANCE STATEMENT: Brain and orbital MRIs may have diagnostic and prognostic roles in patients with suspected giant cell arteritis who present with ophthalmic symptoms.

CT-based assessment of laryngeal fracture patterns and associated soft tissue abnormality.

OBJECTIVE: Acute traumatic injuries to the larynx, including fractures of the hyoid bone, cricoid, and thyroid cartilage, are uncommon injuries. The purpose of this study was to assess fracture and soft tissue patterns associated with laryngeal trauma. METHODS: This was a retrospective review of patients with laryngeal fractures who presented to two level I trauma centers and underwent CT imaging. Imaging findings, including fractures of the cartilaginous structures of the larynx and hyoid bone, and soft tissue abnormalities including focal hematoma, edema with non-focal hemorrhage, and additional penetrating injuries were recorded. Frequencies of fracture patterns were recorded. RESULTS: Thyroid cartilage fractures were most frequently observed occurring in 45/55 patients, followed by cricoid fractures in 13/55 patients. Hyoid fractures were encountered in 8/55 patients. Multi-site fractures were observed in 12/55 patients with thyroid-cricoid fractures occurring in 8/12 patients, followed by thyroid-hyoid fractures in 2/12 patients. Most multi-site fractures occurred in association with focal supraglottic hematomas (10/12), supraglottic edema and non-focal hemorrhage (11/12), and focal subglottic hematoma (5/12). All 13 cricoid fractures occurred with either focal supraglottic hematoma (7), focal subglottic hematoma (4), or edema with non-focal hemorrhage (13). CONCLUSIONS: Thyroid cartilage fractures were the most frequently encountered fracture, followed by cricoid cartilage fractures. Cricoid fractures always occurred with soft tissue abnormalities. Recognition of fracture patterns in the setting of laryngeal trauma and associated patterns of soft tissue injury is important for practicing radiologists for early diagnosis of these conditions and reduction of associated morbidity. KEY POINTS: • Acute fractures to the larynx may be isolated fractures or occur as multi-focal fractures. • Thyroid cartilage fractures are the most frequent fractures followed by cricoid cartilage fractures. • Cricoid cartilage fractures always occurred in association with soft tissue abnormalities.

Orbital Involvement by Biphenotypic Sinonasal Sarcoma With a Literature Review.

PURPOSE: To document a case of a biphenotypic sinonasal sarcoma that impinged on the orbit via a tumor-induced mucocele and review the previous literature devoted to this condition. METHODS: A clinicopathologic case report with detailed histopathologic, immunohistochemical, and radiological studies with tabulations of previously reported cases and immunohistochemical stains for ruling out mimicking lesions. RESULTS: A biphenotypic sinonasal sarcoma arose from the ethmoid sinus in a middle-aged man. The tumor induced a mucocele that bowed the medial orbital lamina papyracea into the orbit and caused diplopia and mild proptosis. The biopsy's dual positivity for S100 and smooth muscle actin together with positive paired box 3 immunohistochemical staining established the diagnosis of biphenotypic sinonasal sarcoma. CONCLUSION: Biphenotypic sinonasal sarcoma, which can involve the orbit in 25% of cases, is a rare head and neck malignancy that has only recently been described. Biphenotypic sinonasal sarcoma is a low-grade, locally aggressive, nonmetastasizing sarcoma displaying both neural and muscle differentiation. It is further characterized by rearrangements of the PAX3 gene with multiple fusion partners, most commonly MAML3 (Mastermind like transcriptional coactivator 3). It occurs predominantly in middle-aged women and exclusively in the sinonasal tract. However, it can spread throughout the central facial structures to invade the brain if not detected early. Ophthalmologists should be aware of this new entity to avoid delays in diagnosis and treatment. The previous literature devoted to this condition was reviewed and analyzed for clinical, radiological, histopathological, and immunohistochemical features. In circumstances where molecular testing is not available, paired box 3 immunohistochemical staining can be used as an alternative diagnostic marker. The current case is most unusual because the orbital findings were induced by a mucocele caused by the tumor that obstructed the sinus ostium. This produced diplopia without direct tumor invasion into the orbital fat.

Nontraumatic Head and Neck Emergencies.

Head and neck imaging is an intimidating subject for many radiologists because of the complex anatomy and potentially serious consequences of delayed or improper diagnosis of the diverse abnormalities involving this region. The purpose of this article is to help radiologists to understand the intricate anatomy of the head and neck and to review the imaging appearances of a variety of nontraumatic head and neck conditions that bring patients to the emergency department, including acute infectious and inflammatory diseases and acute complications of head and neck neoplasms. These conditions are presented in five sections on the basis of their primary location of involvement: the oral cavity and pharynx, neck, sinonasal tract, orbits, and ears. Important anatomic landmarks are reviewed briefly in each related section.Online supplemental material is available for this article.©RSNA, 2019.

Low-Energy Virtual Monochromatic Dual-Energy Computed Tomography Images for the Evaluation of Head and Neck Squamous Cell Carcinoma: A Study of Tumor Visibility Compared With Single-Energy Computed Tomography and User Acceptance.

OBJECTIVE: Dual-energy computed tomography (CT) 40-keV virtual monochromatic images (VMIs) have been reported to improve visualization of head and neck squamous cell carcinoma, but a direct comparison to single-energy CT (SECT) is lacking, and there is debate regarding subjective user preference. We compared 40-keV VMIs with SECT and performed a subjective evaluation of their utility and acceptability for clinical use. METHODS: A total of 60 dual-energy CT and 60 SECT scans from 2 different institutions were evaluated. Tumor conspicuity was evaluated objectively using absolute and relative attenuation and subjectively by 3 head and neck specialists and 3 general radiologists. RESULTS: Tumors had significantly higher absolute and relative attenuation on 40-keV VMIs (P < 0.0001). Subjectively, the 40-keV VMIs improved visualization, with substantial (κ, 0.61-0.80) to almost perfect (κ, 0.81-1) interrater agreements. CONCLUSIONS: The 40-keV VMIs improve tumor visibility objectively and subjectively both by head and neck specialists and general radiologists.

Imaging of Conductive Hearing Loss With a Normal Tympanic Membrane.

OBJECTIVE: This article presents an approach to imaging conductive hearing loss in patients with normal tympanic membranes and discusses entities that should be checked as the radiologist evaluates this potentially complicated issue. CONCLUSION: Conductive hearing loss in a patient with a normal tympanic membrane is a complicated condition that requires a careful imaging approach. Imaging should focus on otosclerosis, and possible mimics and potential surgical considerations should be evaluated. The radiologist should examine the ossicular chain and the round window and keep in mind that a defect in the superior semicircular canal can disturb the hydraulic integrity of the labyrinth.

Computed tomography appearance of normal nonossified thyroid cartilage: implication for tumor invasion diagnosis.

OBJECTIVE: The objective of this study was to determine the density and homogeneity of the nonossified thyroid cartilage (NOTC) on contrast-enhanced computed tomography (CT) providing preliminary information for future evaluation of cartilage invasion using dual-energy CT. METHODS: One hundred normal-larynx CT scans were evaluated for the density and homogeneity of NOTC. RESULTS: The density of the NOTC was homogeneous in all cases. Nonossified thyroid cartilage had higher mean density than contiguous muscle, but there was overlap. In 47 cases, a lucent area was observed at the junction of the ossified and NOTC but not within the NOTC itself. In 11 cases, ossification was observed in only 1 cortex of the thyroid cartilage. Cartilage at the anterior commissure was not ossified in 7 cases. CONCLUSIONS: Nonossified thyroid cartilage has a homogeneous appearance on contrast-enhanced CT scans, but showed some normal variations that could be mistakenly reported as tumor invasion.

Inferior displacement of the lower belly of the lateral pterygoid muscle: a sign of temporomandibular joint lesions.

OBJECTIVE: The purposes of this article are to report the imaging finding of inferior displacement of the lower belly of the lateral pterygoid muscle (LPM) in patients with lesions arising from the temporomandibular joint (TMJ) and to propose that this imaging finding is suggestive of the presence of a TMJ lesion. MATERIALS AND METHODS: We reviewed computed tomographic and magnetic resonance images of 9 patients with lesions involving the TMJ. Images were evaluated for identification of an inferiorly displaced lower belly of the LPM. Pathology reports were reviewed to determine the histopathologic diagnosis of the TMJ lesion. RESULTS: Inferior displacement of the lower belly of the LPM was observed in all cases on magnetic resonance images, computed tomographic images, or both. In 2 cases, the diagnosis was calcium pyrophosphate deposition disease. The remaining cases were ganglion cyst, joint effusion due to dermatomyositis, septic arthritis, chondromyxoid fibroma, synovial chondromatosis, pigmented villonodular synovitis, and giant cell tumor of bone. CONCLUSIONS: Inferior displacement of the lower belly of the LPM is a useful radiologic sign to suggest that a lesion arises from the TMJ.

Stapediovestibular dislocation depicted on temporal bone computed tomography with 3D rendering.

Stapediovestibular dislocation is an unusual form of ossicular trauma. In this article, a case of medial stapediovestibular dislocation and pneumolabyrinth due to penetrating injury with a stick diagnosed on temporal bone CT is described. In particular, 3D CT renderings can aid in the evaluation of the displaced ossicles.

Correlation between histologic and radiographic reconstruction of intracochlear electrode position in human temporal bones.

In our laboratory, human temporal bone specimens from patients who in life have undergone cochlear implantation are routinely processed with the implant in situ, embedded in Araldite, sectioned at 20 µm and serially photographed during cutting, stained with toluidine blue and mounted on glass slides. From the images, two-dimensional and three-dimensional reconstructions can be made and a very accurate implant insertion depth can be calculated from the three-dimensional reconstructions. However, this method precludes subsequent special stains and further molecular investigations of the tissue including proteomics and immunostaining, which is now possible with celloidin-embedded tissue. In this study, we correlated measurement of the implant array insertion depth calculated from histologic three-dimensional reconstruction with that measured from three-dimensional radiologic multiplanar reconstruction. Four human temporal bones with cochlear implants underwent postfixation preprocessing CT imaging with a Siemens Somatom Sensation Scanner. The CT scans from these four bones were downloaded into the Voxar software application, reformatted using the multiplanar reconstruction tool, viewed in three dimensions and measurements of intracochlear insertion lengths of the implants were obtained. The bones were processed routinely for in situ Araldite embedding, serial images were made of the block during sectioning, postprocessed using PV-Wave® software, aligned with Amira® software, and used to create histologic three-dimensional reconstructions. From these three-dimensional reconstructions, the insertion depth of the electrode array was mathematically calculated. The range of insertion depths was 15.9 mm (case 1) to 26.6 mm (case 4). The two methods, radiographic multiplanar reconstruction and three-dimensional reconstruction, differed by 0.4-0.9%. This provides confidence that important localization information about the electrode in situ can be gleaned from CT scans, thereby allowing us to extract the implants prior to processing for celloidin embedment and allow further techniques such as special stains and immunostaining to be accomplished in order to evaluate molecular mechanisms involved in cochlear implantation.

Superior canal dehiscence length and location influences clinical presentation and audiometric and cervical vestibular-evoked myogenic potential testing.

Superior canal dehiscence (SCD) is caused by an absence of bony covering of the arcuate eminence or posteromedial aspect of the superior semicircular canal. However, the clinical presentation of SCD syndrome varies considerably, as some SCD patients are asymptomatic and others have auditory and/or vestibular complaints. In order to determine the basis for these observations, we examined the association between SCD length and location with: (1) auditory and vestibular signs and symptoms; (2) air conduction (AC) loss and air-bone gap (ABG) measured by pure-tone audiometric testing, and (3) cervical vestibular-evoked myogenic potential (cVEMP) thresholds. 104 patients (147 ears) underwent SCD length and location measurements using a novel method of measuring bone density along 0.2-mm radial CT sections. We found that patients with auditory symptoms have a larger dehiscence (median length: 4.5 vs. 2.7 mm) with a beginning closer to the ampulla (median location: 4.8 vs. 6.4 mm from ampulla) than patients with no auditory symptoms (only vestibular symptoms). An increase in AC threshold was found as the SCD length increased at 250 Hz (95% CI: 1.7-4.7), 500 Hz (95% CI: 0.7-3.5) and 1,000 Hz (95% CI: 0.0-2.5), and an increase in ABG as the SCD length increased at 250 Hz (95% CI: 2.0-5.3), 500 Hz (95% CI: 1.6-4.6) and 1,000 Hz (95% CI: 1.3-3.3) was also seen. Finally, a larger dehiscence was associated with lowered cVEMP thresholds at 250 Hz (95% CI: -4.4 to -0.3), 500 Hz (95% CI: -4.1 to -1.0), 750 Hz (95% CI: -4.2 to -0.7) and 1,000 Hz (95% CI: -3.6 to -0.5) and a starting location closer to the ampulla at 250 Hz (95% CI: 1.3-5.1), 750 Hz (95% CI: 0.2-3.3) and 1,000 Hz (95% CI: 0.6-3.5). These findings may help to explain the variation of signs and symptoms seen in patients with SCD syndrome.

Nasal hamartoma associated with duplicated pituitary.

Nasal hamartomas are rare congenital lesions. We describe a case of nasal hamartoma associated with pituitary duplication and other midline anomalies. A 40-year-old female with a history of breast cancer presented with nasal obstruction. Computed tomography and magnetic resonance imaging revealed a mass arising from the nasal septum, as well as duplication of the pituitary and a skull base canal that extended from the margin of the left pituitary fossa to the nasal mass. The mass was subsequently resected via a transnasal endoscopic approach and histology confirmed the presence of hamartoma. Nasal hamartomas are benign lesions that can be associated with other midline anomalies, such as duplicated pituitary, and can be managed conservatively.

Computed Tomography Density as a Bio-marker for Histologic Grade of Otosclerosis: A Human Temporal Bone Pathology Study.

HYPOTHESIS: Computed tomography (CT) density measurement can be used to objectively distinguish otosclerosis from normal bone and to determine histologic grades of otosclerosis. BACKGROUND: Otosclerosis can be seen on CT as subtle radiolucent areas. An objective radiologic measurement that corresponds to known otosclerosis pathology may improve diagnostic accuracy, and could be used as a radiologic biomarker for otosclerosis grade. METHODS: A blinded, randomized evaluation of both histologic grade on histopathology slides and CT density measurement was performed on 78 human temporal bone specimens (31 with otosclerosis and 47 controls) that had undergone high-resolution multi-detector CT before histologic processing. Assessments were performed at 11 regions of interest (ROIs) in the otic capsule for each specimen. RESULTS: The CT density measurement mean (Hounsfield Units) ± standard deviation for all ROIs (Nos. 1-9) was 2245 ± 854 for grade 0 (no otosclerosis, n = 711), 1896 ± 317 for grade 1 (inactive otosclerosis, n = 109), and 1632 ± 255 for grades 2 and 3 combined (mixed/active otosclerosis, n 35). There was a strong inverse correlation of CT density to histologic grade at ROIs Nos. 1-5 (ANOVA, p < 0.0001). The inter-rater reliability for CT density was very good (correlation coefficient 0.87, p < 0.05). ROC curves suggested a cut-off of 2,150HU to distinguish otosclerosis from normal bone, and 1,811HU to distinguish low grade from mixed/high grade otosclerosis. CONCLUSIONS: In human temporal bone specimens, CT density may be used to distinguish normal bone from bone involved by otosclerosis. A higher histologic grade (i.e., indicating a more active otosclerotic focus) correlated with lower density.

Otopathologic and Computed Tomography Correlation of Internal Auditory Canal Diverticula in Otosclerosis.

INTRODUCTION: Internal auditory canal (IAC) diverticula, also known as IAC cavitary lesions or anterior cupping of the IAC, observed in otopathologic specimens and high-resolution computed tomography (CT) scans of the temporal bone are thought to be related to otosclerosis. Herein, we examined the usefulness of CT scans in identifying diverticula and determined whether IAC diverticula are associated with otosclerosis on otopathology. METHODS: One hundred five consecutive specimens were identified from the National Temporal Bone Hearing and Balance Pathology Resource Registry. Inclusion criteria included the availability of histologic slides and postmortem specimen CT scans. Exclusion criteria included cases with severe postmortem changes or lesions causing bony destruction of the IAC. RESULTS: Ninety-seven specimens met criteria for study. Of these, 42% of the specimens were from male patients, and the average age of death was 77 years (SD = 18 yr). IAC diverticula were found in 48 specimens, of which 46% were identified in the CT scans. The mean area of the IAC diverticula was 0.34 mm 2 . The sensitivity and specificity of detecting IAC diverticula based on CT were 77% and 63%, respectively. Overall, 27% of specimens had otosclerosis. Histologic IAC diverticula were more common in specimens with otosclerosis than those without (37.5% versus 16%; p = 0.019). Cases with otosclerosis had a greater mean histologic diverticula area compared with nonotosclerosis cases (0.69 mm 2 versus 0.14 mm 2 ; p = 0.001). CONCLUSION: IAC diverticula are commonly found in otopathologic specimens with varied etiologies, but larger diverticula are more likely to be associated with otosclerosis. The sensitivity and specificity of CT scans to detect IAC diverticula are limited.

Ocular adnexal lymphoma: diffusion-weighted mr imaging for differential diagnosis and therapeutic monitoring.

PURPOSE: To describe the magnetic resonance (MR) imaging and diffusion-weighted (DW) imaging features of ocular adnexal lymphomas (OALs), to determine the diagnostic accuracy of apparent diffusion coefficient (ADC) for discriminating OALs from other orbital mass lesions, and to assess whether variations in ADC constitute a reliable biomarker of OAL response to therapy. MATERIALS AND METHODS: Institutional ethical committee approval and informed consent were obtained. In this prospective study, 114 white subjects (65 females and 49 males) were enrolled. Thirty-eight patients with histopathologically proved OAL underwent serial MR and DW imaging examination of the orbits. ADCs of OALs were compared with those of normal orbital structures, obtained in 18 healthy volunteers, and other orbital mass lesions, prospectively acquired in 58 patients (20 primary non-OAL neoplasms, 15 vascular benign lesions, 12 inflammatory lesions, 11 metastases). Interval change in ADC of OALs before and after treatment was analyzed in 29 patients. Analysis of covariance and a paired t test were used for statistical analysis. RESULTS: Baseline ADCs in OALs were lower than those in normal structures and other orbital diseases (P < .001). An ADC threshold of 775 x 10(-6) mm(2)/sec resulted in 96% sensitivity, 93% specificity, 88% positive predictive value, 98.2% negative predictive value, and 94.4% accuracy in OAL diagnosis. Following appropriate treatment, 10 (34%) of 29 patients showed OAL volumetric reduction, accompanied (n = 7) or preceded (n = 3) by an increase in ADC (P = .005). Conversely, a further reduction of ADC was observed in the seven patients who experienced disease progression (P < .05). CONCLUSION: ADC permits accurate diagnosis of OALs. Interval change in ADC after therapy represents a helpful tool for predicting therapeutic response.

Imaging of the mylohyoid muscle: separation of submandibular and sublingual spaces.

OBJECTIVE: This article focuses on the anatomy of the mylohyoid muscle, a crucial landmark in imaging of the oral cavity and upper neck, showing dissected specimens and CT and MR images. CONCLUSION: Identification of the relationship of a lesion in the sublingual space to the mylohyoid muscle using MDCT and high-resolution MRI is a key part of the imaging assessment of the oral cavity and upper neck.

The Cochlear Cleft: CT Correlation With Histopathology.

OBJECTIVE: To show the histologic correlate of the cochlear cleft, a small low density focus just anterior to the oval window seen on computed tomography (CT) in three temporal bone specimens. PATIENTS: Three temporal bone specimens donated to the National Temporal Bone Registry from patients aged 34 weeks gestation, 42 years, and 89 years with cochlear clefts seen on CT were studied. INTERVENTION: Review and comparison of postmortem high-resolution CT and temporal bone histopathology MAIN OUTCOME MEASURE:: Correlation of CT findings with temporal bone histopathology. RESULTS: The cochlear cleft visible on CT as a pericochlear lucency anterior to the oval window corresponds to fatty marrow in areas of incomplete endochondral ossification of the otic capsule. The cochlear cleft is distinct from the fissula ante fenestram and can be present in adults. CONCLUSION: In these three cases, the cochlear cleft represents an area of fatty marrow from incomplete ossification of the otic capsule and can be present in adults. Care should be taken when interpreting temporal bone CT to avoid mistaking the cochlear cleft for true pathology (otosclerosis) of the temporal bone.

Medialization of the lamina papyracea after endoscopic ethmoidectomy: comparison of preprocedure and postprocedure computed tomographic scans.

OBJECTIVE: The purpose of this article is to report computed tomography demonstration of medial bowing of the lamina papyracea in 5 patients after internal ethmoidectomy. METHODS: We identified 5 patients who had apparent medial bowing of the lamina papyracea after functional endoscopic sinus surgery (FESS) and who had preoperative scans available. Preoperative and postoperative scans were reviewed using a 3-dimensional workstation to ensure similar angulation of the slices before measurement. Measurements of the interorbital distance and also the position of the posterior margin of the globe relative to a line connecting the lateral orbital walls were performed. RESULTS: Each of the patients demonstrated a decrease in the interorbital distance on the postoperative scan. Measurement of globe position showed that 9 of the 10 globes lay in a more posterior position within the orbit on postoperative examination. CONCLUSIONS: Medial bowing of the lamina papyracea may occur as a result of FESS and may lead to relative enophthalmos in comparison. The incidence of this phenomenon is unknown because most patients are not reimaged after FESS.

Arterial Anomalies of the Middle Ear: A Pictorial Review with Clinical-Embryologic and Imaging Correlation.

The differential diagnosis of a red and/or pulsatile retrotympanic mass includes aberrant internal carotid artery, persistent stapedial artery (PSA), glomus tympanicum, and dehiscent jugular bulb. By recognizing the features of aberrant internal carotid artery and PSA on high-resolution computed tomography, these entities can be assessed by the radiologist. PSA is further classified by type because each type demonstrates a unique set of imaging features in addition to features common to all types. Although rarely encountered, it is important to reliably and consistently detect these anomalies because failure to do so can lead to disastrous surgical outcomes.

Vestibular Aqueduct Morphology Correlates With Endolymphatic Sac Pathologies in Menière's Disease-A Correlative Histology and Computed Tomography Study.

HYPOTHESIS: The vestibular aqueduct (VA) in Menière's disease (MD) exhibits different angular trajectories depending on the presenting endolymphatic sac (ES) pathology, i.e., 1) ES hypoplasia or 2) ES degeneration. BACKGROUND: Hypoplasia or degeneration of the ES was consistently found in inner ears affected by MD. The two etiologically distinct ES pathologies presumably represent two disease "endotypes," which may be associated with different clinical traits ("phenotypes") of MD. Recognizing these endotypes in the clinical setting requires a diagnostic tool. METHODS: 1) Defining the angular trajectory of the VA (ATVA) in the axial plane. 2) Measuring age-dependent normative data for the ATVA in postmortem temporal bone histology material from normal adults and fetuses. 3) Validating ATVA measurements from normative CT imaging data. 4) Correlating the ATVA with different ES pathologies in histological materials and CT imaging data from MD patients. RESULTS: 1) The ATVA differed significantly between normal adults and MD cases with ES degeneration, as well as between fetuses and MD cases with ES hypoplasia; 2) a strong correlation between ATVA measurements in histological sections and CT imaging data was found; 3) a correlation between the ATVA, in particular its axial trajectory in the opercular region (angle αexit), with degenerative (αexit < 120°) and hypoplastic ES pathology (αexit > 140°) was demonstrated. CONCLUSION: We established the ATVA as a radiographic surrogate marker for ES pathologies. CT-imaging-based determination of the ATVA enables endotyping of MD patients according to ES pathology. Future studies will apply this method to investigate whether ES endotypes distinguish clinically meaningful subgroups of MD patients.