A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.

Loss-of-function variants in AP3D1 have been linked to Hermansky-Pudlak syndrome (HPS) 10, a severe multisystem disorder characterized by oculocutaneous albinism, immunodeficiency, neurodevelopmental delay, hearing loss (HL), and neurological abnormalities, fatal in early childhood. Here, we report a consanguineous family who presented with presumably isolated autosomal recessive (AR) HL. Whole-exome sequencing was performed on all core family members, and selected patients were screened using array-based copy-number analysis and karyotyping. Candidate variants were validated by Sanger sequencing and assessed in silico. A homozygous, likely pathogenic p.V711I missense variant in AP3D1 segregated with the HL. The family was characterized by thorough medical and laboratory examination. The HL was consistent across patients and accompanied by neurological manifestations in two brothers. The sole female patient was diagnosed with premature ovarian failure. Further findings, including mild neutropenia and reduced NK-cell cytotoxicity in some as well as brain alterations in all homozygous patients, were reminiscent of HPS10, though milder and lacking the characteristic albinism. Previously unrecognized, milder, isolated HL was identified in all heterozygous carriers. A protein model indicates that the variant interferes with protein-protein interactions. These results suggest that a missense variant alters inner-ear-specific functions leading to HL with mild HPS10-like symptoms of variable penetrance. Milder HL in heterozygous carriers may point towards semi-dominant inheritance of this trait. Since all previously reported HPS10 cases were pediatric, it is unknown whether the observed primary ovarian insufficiency recapitulates the subfertility in Ap3d1-deficient mice.

Normal spectrum of pulmonary parametric response map to differentiate lung collapsibility: distribution of densitometric classifications in healthy adult volunteers.

OBJECTIVES: Pulmonary parametric response map (PRM) was proposed for quantitative densitometric phenotypization of chronic obstructive pulmonary disease. However, little is known about this technique in healthy subjects. The purpose of this study was to describe the normal spectrum of densitometric classification of pulmonary PRM in a group of healthy adults. METHODS: 15 healthy volunteers underwent spirometrically monitored chest CT at total lung capacity (TLC) and functional residual capacity (FRC). The paired CT scans were analyzed by PRM for voxel-by-voxel characterization of lung parenchyma according to 4 densitometric classifications: normal lung (TLC ≥ -950 HU, FRC ≥ -856 HU); expiratory low attenuation area (LAA) (TLC ≥ -950 HU, FRC < -856 HU); dual LAA (TLC<-950 HU, FRC < -856 HU); uncharacterized (TLC < -950 HU, FRC ≥ -856 HU). RESULTS: PRM spectrum was 78 % ± 10 % normal lung, 20 % ± 8 % expiratory LAA, and 1 % ± 1 % dual LAA. PRM was similar between genders, there was moderate correlation between dual LAA and spirometrically assessed TLC (R = 0.531; p = 0.042), and between expiratory LAA and VolExp/Insp ratio (R = -0.572; p = 0.026). CONCLUSIONS: PRM reflects the predominance of normal lung parenchyma in a group of healthy volunteers. However, PRM also confirms the presence of physiological expiratory LAA seemingly related to air trapping and a minimal amount of dual LAA likely reflecting emphysema. KEY POINTS: • Co-registration of inspiratory and expiratory computed tomography allows dual-phase densitometry. • Dual-phase co-registered densitometry reflects heterogeneous regional changes in lung function. • Quantification of lung in healthy subjects is needed to set reference values. • Expiratory low attenuation areas <30 % could be considered within normal range.

Comparison of four software packages for CT lung volumetry in healthy individuals.

OBJECTIVES: To compare CT lung volumetry (CTLV) measurements provided by different software packages, and to provide normative data for lung densitometric measurements in healthy individuals. METHODS: This retrospective study included 51 chest CTs of 17 volunteers (eight men and nine women; mean age, 30 ± 6 years), who underwent spirometrically monitored CT at total lung capacity (TLC), functional residual capacity (FRC), and mean inspiratory capacity (MIC). Volumetric differences assessed by four commercial software packages were compared with analysis of variance (ANOVA) for repeated measurements and benchmarked against the threshold for acceptable variability between spirometric measurements. Mean lung density (MLD) and parenchymal heterogeneity (MLD-SD) were also compared with ANOVA. RESULTS: Volumetric differences ranged from 12 to 213 ml (0.20 % to 6.45 %). Although 16/18 comparisons (among four software packages at TLC, MIC, and FRC) were statistically significant (P < 0.001 to P = 0.004), only 3/18 comparisons, one at MIC and two at FRC, exceeded the spirometry variability threshold. MLD and MLD-SD significantly increased with decreasing volumes, and were significantly larger in lower compared to upper lobes (P < 0.001). CONCLUSIONS: Lung volumetric differences provided by different software packages are small. These differences should not be interpreted based on statistical significance alone, but together with absolute volumetric differences. KEY POINTS: • Volumetric differences, assessed by different CTLV software, are small but statistically significant. • Volumetric differences are smaller at TLC than at MIC and FRC. • Volumetric differences rarely exceed spirometric repeatability thresholds at MIC and FRC. • Differences between CTLV measurements should be interpreted based on comparison of absolute differences. • MLD increases with decreasing volumes, and is larger in lower compared to upper lobes.

MR neurography of ulnar nerve entrapment at the cubital tunnel: a diffusion tensor imaging study.

OBJECTIVES: MR neurography, diffusion tensor imaging (DTI) and tractography at 3 Tesla were evaluated for the assessment of patients with ulnar neuropathy at the elbow (UNE). METHODS: Axial T2-weighted and single-shot DTI sequences (16 gradient encoding directions) were acquired, covering the cubital tunnel of 46 patients with clinically and electrodiagnostically confirmed UNE and 20 healthy controls. Cross-sectional area (CSA) was measured at the retrocondylar sulcus and FA and ADC values on each section along the ulnar nerve. Three-dimensional nerve tractography and T2-weighted neurography results were independently assessed by two raters. RESULTS: Patients showed a significant reduction of ulnar nerve FA values at the retrocondylar sulcus (p = 0.002) and the deep flexor fascia (p = 0.005). At tractography, a complete or partial discontinuity of the ulnar nerve was found in 26/40 (65%) of patients. Assessment of T2 neurography was most sensitive in detecting UNE (sensitivity, 91%; specificity, 79%), followed by tractography (88%/69%). CSA and FA measurements were less effective in detecting UNE. CONCLUSION: T2-weighted neurography remains the most sensitive MR technique in the imaging evaluation of clinically manifest UNE. DTI-based neurography at 3 Tesla supports the MR imaging assessment of UNE patients by adding quantitative and 3D imaging data. KEY POINTS: • DTI and tractography support conventional MR neurography in the detection of UNE • Regionally reduced FA values and discontinuous tractography patterns indicate UNE • T2-weighted MR neurography remains the imaging gold standard in cases of UNE • DTI-based ulnar nerve tractography offers additional topographic information in 3D.

Normal mandibular growth and diagnosis of micrognathia at prenatal MRI.

OBJECTIVE: The aim of this article is to present reference data for fetal mandibular growth on magnetic resonance imaging, enabling the diagnosis of micrognathia. METHODS: Retrospectively, on 355 magnetic resonance scans of apparently facially normal fetuses [gestational age (GA), 20-36 weeks], mandibular anterior-posterior diameter (APD = mandibular size), inferior facial angle (IFA = mandibular position), and jaw index (APD normalized to biparietal diameter) were correlated with GA by Pearson correlation. APD-age relationship was modeled. A receding chin was subjectively determined. Ten fetuses with mandibular anomalies were compared with normal fetuses. RESULTS: For GA, APD showed high correlation (r = 0.850; P < 0.001), IFA (r = 0.086; P = 0.119) no correlation, and jaw index (r = -0.139; P = 0.018) weak correlation. APD-age relationship was expressed by the following: APD = 0.281 + 0.989 * GA (r(2) = 0.723). A receding chin was identified in 7/10 abnormal fetuses. APD, IFA, and jaw index of abnormal and normal fetuses were significantly different (P < 0.001). In 10/10 abnormal fetuses, IFA was <50.0°; in 7/10, jaw index was less than the fifth percentile (micrognathia); in 3/10, jaw index was at low normal range (retrognathia). CONCLUSIONS: Subjective identification of micrognathia may be limited. Reference data provide quantitative evaluation of mandibular size and position. An IFA <50° reflects micrognathia or retrognathia; a jaw index less than the fifth percentile suggests micrognathia.

Radiological follow-up of cemento-osseous dysplasia on cone-beam computed tomography.

This study investigated the natural course of cemento-osseous dysplasia (COD) on cone-beam computed tomography (CBCT). Retrospectively, 104 CBCT scans from 36 patients (mean age, 44.5 years; 33 female and three male) with mandibular COD (10 florid, seven focal, 19 periapical) were included, based upon clinico-radiological features, without complications such as infection and related surgery. Changes in maximum diameter and morphology (lytic, mixed lytic-sclerotic, sclerotic) were evaluated in 83 lesions, with a mean follow-up of 28.3 months. The occurrence of a diameter increase was assessed by time-to-event analysis; interreader agreement for diameter and morphological evaluation by intraclass correlation coefficient and weighted κ statistics, respectively. Fifteen of 83 (18.1%) lesions (eight florid, one focal, six periapical) in 10 patients increased in diameter; 12 of 83 (14.5%) lesions (five florid, seven periapical) in 11 patients changed morphologically. The median period until a diameter increase was longest (120 months) for periapical COD, and shortest (66 months) for florid COD (p = 0.023). There was high reader agreement (ICC = 0.891; weighted κ = 0.901). In conclusion, CBCT is an effective tool with which to follow-up COD. If any, the natural progress in uncomplicated COD is prolonged, which underlines its non-surgical character and aids in its long-term management.

Human long bone development in vivo: analysis of the distal femoral epimetaphysis on MR images of fetuses.

PURPOSE: To investigate human long bone development in vivo by analyzing distal femoral epimetaphyseal structures and bone morphometrics on magnetic resonance (MR) images of fetuses. MATERIALS AND METHODS: An institutional review board approved this retrospective study, and informed consent was waived. Included were 272 MR imaging examinations (April 2004-July 2011) in 253 fetuses with a mean gestational age (GA) of 26 weeks 6 days (range, 19 weeks 2 days to 35 weeks 6 days) without known musculoskeletal abnormalities. Two independent readers qualitatively analyzed epiphyseal and metaphyseal shape, secondary ossification, and the perichondrium on 1.5-T echo-planar MR images and correlated the results with the GA that was derived from previous fetal ultrasonography (US). Diaphyseal and epiphyseal morphometric measurements were correlated with GA by means of the Pearson correlation and linear regression. MR imaging measurements of diaphyseal length and US normative values were compared graphically. Interreader agreement analysis was performed with weighted κ statistics and the intraclass correlation coefficient. RESULTS: With advancing GA, the epiphyseal shape changed from spherical (r(2) = 0.664) to hemispherical with a notch (r(2) = 0.804), and the metaphyseal shape changed from flat (r(2) = 0.766) to clearly undulated (r(2) = 0.669). Secondary ossification (r(2) = 0.777) was not observed until 25 weeks 3 days. The perichondrium decreased (r(2) = 0.684) from 20 weeks onward. Correlation coefficients were 0.897 for diaphyseal length, 0.738 for epiphyseal length, and 0.801 for epiphyseal width with respect to GA. The range of measurements of diaphyseal length was larger than that of the reported US normative values. Interreader agreement was good for bone morphometrics (intraclass correlation coefficient, 0.906-0.976), and moderate for bone characteristics (weighted κ, 0.448-0.848). CONCLUSION: Prenatal MR imaging allows visualization of human bone development in vivo by means of epimetaphyseal characteristics and bone morphometrics. SUPPLEMENTAL MATERIAL: http://radiology.rsna.org/lookup/suppl/doi:10.1148/radiol.13112441/-/DC1.

Texture-based and diffusion-weighted discrimination of parotid gland lesions on MR images at 3.0 Tesla.

The purpose of this study was to evaluate whether texture-based analysis of standard MRI sequences and diffusion-weighted imaging can help in the discrimination of parotid gland masses. The MR images of 38 patients with a biopsy- or surgery-proven parotid gland mass were retrospectively analyzed. All patients were examined on the same 3.0 Tesla MR unit, with one standard protocol. The ADC (apparent diffusion coefficient) values of the tumors were measured with three regions of interest (ROIs) covering the entire tumor. Texture-based analysis was performed with the texture analysis software MaZda (version 4.7), with ROI measurements covering the entire tumor in three slices. COC (co-occurrence matrix), RUN (run-length matrix), GRA (gradient), ARM (auto-regressive model), and WAV (wavelet transform) features were calculated for all ROIs. Three subsets of 10 texture features each were used for a linear discriminant analysis (LDA) in combination with k nearest neighbor classification (k-NN). Using histology as a standard of reference, benign tumors, including subtypes, and malignant tumors were compared with regard to ADC and texture-based values, with a one-way analysis of variance with post-hoc t-tests. Significant differences were found in the mean ADC values between Warthin tumors and pleomorphic adenomas, as well as between Warthin tumors and benign lesions. Contrast-enhanced T1-weighted images contained the most relevant textural information for the discrimination between benign and malignant parotid masses, and also for the discrimination between pleomorphic adenomas and Warthin tumors. STIR images contained the least relevant texture features, particularly for the discrimination between pleomorphic adenomas and Warthin tumors. Texture analysis proved to differentiate benign from malignant lesions, as well as pleomorphic adenomas from Warthin tumors, based on standard T(1w) sequences (without and with contrast). Of all benign parotid masses, Warthin tumors had significantly lower ADC values than the other entities.

Quantitative evaluation of contrast-enhanced ultrasound after intravenous administration of a microbubble contrast agent for differentiation of benign and malignant thyroid nodules: assessment of diagnostic accuracy.

OBJECTIVES: To investigate the diagnostic accuracy, through quantitative analysis, of contrast-enhanced ultrasound (CEUS), using a microbubble contrast agent, in the differentiation of thyroid nodules. METHODS: This prospective study enrolled 46 patients with solitary, scintigraphically non-functional thyroid nodules. These patients were scheduled for surgery and underwent preoperative CEUS with pulse-inversion harmonic imaging after intravenous microbubble contrast medium administration. Using histology as a standard of reference, time-intensity curves of benign and malignant nodules were compared by means of peak enhancement and wash-out enhancement relative to the baseline intensity using a mixed model ANOVA. ROC analysis was performed to assess the diagnostic accuracy in the differentiation of benign and malignant nodules on CEUS. RESULTS: The complete CEUS data of 42 patients (31/42 [73.8%] benign and 11/42 [26.2%] malignant nodules) revealed a significant difference (P < 0.001) in enhancement between benign and malignant nodules. Furthermore, based on ROC analysis, CEUS demonstrated sensitivity of 76.9%, specificity of 84.8% and accuracy of 82.6%. CONCLUSIONS: Quantitative analysis of CEUS using a microbubble contrast agent allows the differentiation of benign and malignant thyroid nodules and may potentially serve, in addition to grey-scale and Doppler ultrasound, as an adjunctive tool in the assessment of patients with thyroid nodules. KEY POINTS: • Contrast-enhanced ultrasound (CEUS) helps differentiate between benign and malignant thyroid nodules. • Quantitative CEUS analysis yields sensitivity of 76.9% and specificity of 84.8%. • CEUS may be a potentially useful adjunct in assessing thyroid nodules.

Male genital abnormalities in intrauterine growth restriction.

OBJECTIVE: Previous studies have shown a correlation between hypospadias and intrauterine growth restriction (IUGR), suggesting an association between placental insufficiency and abnormal genital development. This study sought to analyze the association of IUGR and genital abnormalities apparent on fetal magnetic resonance imaging (MRI). METHODS: This retrospective study included 22 MRI scans of 20 male fetuses between 20 and 35 weeks of gestation presenting with IUGR. On MRI, penile length and testicular descent were evaluated. Student's t-testing and analysis of covariance were used to compare MRI penile length measurements with published normative data obtained from fetal ultrasonography (US) and MRI. McNemar testing was used to evaluate testicular descent in IUGR, compared with reported fetal MRI normative data. RESULTS: The penile length in IUGR fetuses was shorter than in normal fetuses (p<0.001). Furthermore, six of 20 fetuses presented with a micropenis (2.5 SD below the mean value for age). Undescended testes were significantly more frequent in IUGR fetuses than in normal fetuses (p=0.004). CONCLUSION: Our data confirm that abnormal fetal growth may be associated with penile shortening and, potentially, also undescended testes.

Clubfeet and associated abnormalities on fetal magnetic resonance imaging.

OBJECTIVE: Clubfoot, or talipes equinovarus (TEV), is commonly diagnosed on prenatal ultrasound. This study sought to visualize TEV and associated abnormalities on fetal magnetic resonance imaging (MRI) compared with ultrasound. METHODS: This retrospective study included the MRI scans of 44 fetuses with TEV using postnatal assessment and autopsy as standard of reference. Isolated TEV was differentiated from complex TEV with associated abnormalities. MRI findings and previous ultrasound diagnoses were compared. RESULTS: Isolated TEV was found in 19/44 (43.2%) fetuses and complex TEV in 25/44 (56.8%). Associated abnormalities consisted of the following: central nervous system/spinal abnormalities in 13/25 (52.0%) fetuses; musculoskeletal abnormalities in 7/25 (28.0%); thoracic abnormalities in 3/25 (12.0%); a tumor in one case; and hydrops fetalis in one. Of the 44 cases, 35 (79.5%) pregnancies were delivered, and nine (20.5%) pregnancies, which were terminated, all had complex TEV. Of the 42 available ultrasound reports, additional MRI findings were made in 8/42 (19.0%) cases. MRI did not add findings in isolated TEV on ultrasound. In 4/44 (9.1%) cases, autopsy revealed additional findings compared with prenatal imaging. CONCLUSION: Fetal MRI enables differentiation between isolated and complex TEV. Isolated TEV on ultrasound may not be an MRI indication, whereas MRI may be useful in cases of complex TEV.

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).

The spondylo and spondylometaphyseal dysplasias (SMDs) are characterized by vertebral changes and metaphyseal abnormalities of the tubular bones, which produce a phenotypic spectrum of disorders from the mild autosomal-dominant brachyolmia to SMD Kozlowski to autosomal-dominant metatropic dysplasia. Investigations have recently drawn on the similar radiographic features of those conditions to define a new family of skeletal dysplasias caused by mutations in the transient receptor potential cation channel vanilloid 4 (TRPV4). This review demonstrates the significance of radiography in the discovery of a new bone dysplasia family due to mutations in a single gene.

MRI versus radiography of acromioclavicular joint dislocation.

OBJECTIVE: Acromioclavicular joint injuries are usually diagnosed by clinical and radiographic assessment with the Rockwood classification, which is crucial for treatment planning. In view of the implementation of MRI for visualization of the acromioclavicular joint, the purpose of this study was to describe the MRI findings of acromioclavicular joint dislocation in comparison with the radiographic findings. SUBJECTS AND METHODS: Forty-four patients with suspected unilateral acromioclavicular joint dislocation after acute trauma were enrolled in this prospective study. All patients underwent digital radiography and 1-T MRI with a surface phased-array coil. MRI included coronal proton density-weighted turbo spin-echo and coronal 3D T1-weighted fast field-echo water-selective sequences. The Rockwood classification was used to assess acromioclavicular joint injuries at radiography and MRI. An adapted Rockwood classification was used for MRI evaluation of the acromioclavicular joint ligaments. The classifications of acromioclavicular joint dislocations diagnosed with radiography and MRI were compared. RESULTS: Among 44 patients with Rockwood type I-IV injuries on radiographs, classification on radiographs and MR images was concordant in 23 (52.2%) patients. At MRI, the injury was reclassified to a less severe type in 16 (36.4%) patients and to a more severe type in five (11.4%) patients. Compared with the findings according to the original Rockwood system, with the adapted system that included MRI findings, additional ligamentous lesions were found in 11 (25%) patients. CONCLUSION: In a considerable number of patients, the MRI findings change the Rockwood type determined with radiography. In addition to clinical assessment and radiography, MRI may yield important findings on ligaments that may influence management.

Fetal akinesia and associated abnormalities on prenatal MRI.

OBJECTIVE: In view of the increasing role of magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), this study sought to demonstrate the visualization of fetal akinesia and associated abnormalities on MRI. METHODS: This retrospective study included six fetuses with akinesia and associated abnormalities, depicted on fetal MRI after suspicious prenatal US. The whole fetus was assessed for musculoskeletal abnormalities and associated pathological conditions elsewhere. Fetal outcome data were compared with prenatal imaging. US and MRI findings were also compared. RESULTS: Akinesia resulting in arthrogryposis was seen in 6/6 fetuses, with abnormal musculature in 5/6 fetuses. Associated brain abnormalities were found in 2/6 fetuses; facial abnormalities in 3/6; lung hypoplasia in 3/6; and polyhydramnios in 2/6. There were 5/6 pregnancies that were terminated and one individual died neonatally. MRI and brain autopsy were concordant in 4/6 cases. MRI and body autopsy were concordant in 1/6 cases and in 5/6 cases, autopsy revealed additional abnormalities. In addition to US, MRI correctly identified central nervous system findings in four cases and lung hypoplasia in three cases. CONCLUSION: Our MRI results demonstrate fetal akinesia and associated abnormalities, which may have an impact on perinatal management, as an adjunct to prenatal US.

Abnormalities of the penis in utero--hypospadias on fetal MRI.

OBJECTIVE: To demonstrate the visualization of penile abnormalities on fetal magnetic resonance imaging (MRI). METHODS: This retrospective study included five fetuses (25+0 to 31+6 gestational weeks) with penile abnormalities, positively depicted on fetal MRI, using prenatal ultrasonography (US) as a standard of reference. On MRI, the penis, as well as the scrotum and testicles, were evaluated. All fetal organs were reviewed to define penile abnormalities as isolated or in association with other anomalies. Furthermore, US and MRI findings were compared. RESULTS: Posterior hypospadias were demonstrated in all five fetuses, and abnormal testicular descent in two. Associated anomalies were present in all five fetuses on MRI, including abdominal/urogenital pathologies in four; brain pathologies in three; and craniofacial, cardiac, musculoskeletal, pathologies each in one fetus, and intrauterine growth retardation in one fetus. Compared to US, additional MRI findings were shown in four of five fetuses. CONCLUSIONS: Our MRI results demonstrate the visualization of fetal penile abnormalities and associated pathologies, which may provide information for perinatal management. MRI may show additional findings compared to prenatal US in certain cases.

Vertebral Bone Marrow and Endplate Assessment on MR Imaging for the Differentiation of Modic Type 1 Endplate Changes and Infectious Spondylodiscitis.

On magnetic resonance (MR) imaging, Modic type 1 (MT1) endplate changes and infectious spondylodiscitis share similar findings. Therefore, this study investigated vertebral bone marrow and endplate changes to enable their differentiation. The lumbar spine MR examinations of 91 adult patients were retrospectively included: 39 with MT1; 19 with early spondylodiscitis without abscess; and 33 with advanced spondylodiscitis with abscess. The assessment included percentage of bone marrow edema on sagittal short tau inversion recovery images, and the signal ratio of edema to unaffected bone and endplate contour (normal; irregular, yet intact; blurred; destructive) on sagittal unenhanced T1-weighted images. Differences were tested for statistical significance by Chi-square test and mixed model analysis of variance. The MR diagnostic accuracy in differentiating MT1 and spondylodiscitis was assessed by cross-tabulation and receiver-operating characteristic analysis. The endplate contours, edema extents, and T1-signal ratios of MT1 (extent, 31.96%; ratio, 0.83) were significantly different (p < 0.001) from early spondylodiscitis (56.42%; 0.60), and advanced spondylodiscitis (91.84%; 0.61). The highest diagnostic accuracy (sensitivity, 94.87%; specificity, 94.23%; accuracy, 94.51%) in identifying MT1 was provided by an irregular, yet intact endplate contour. This may be a useful MR feature for the differentiation between MT1 and spondylodiscitis, particularly in its early stage.

Lumbar Intervertebral Disc Degeneration as a Common Incidental Finding in Young Pregnant Women as Observed on Prenatal Magnetic Resonance Imaging.

Background: Obstetric imaging, subserving fetal evaluation, may yield incidental maternal findings. Based on prenatal magnetic resonance (MR) imaging, this study aims to investigate incidental intervertebral disc degeneration and displacement in young, pregnant women. Methods: This retrospective study included the sagittal 1.5 Tesla, T2-weighted lumbar spine images of 943 pregnant Central Europeans (age range, 18-47 years), who initially had undergone MR imaging because of sonographically suspected fetal abnormalities. Qualitatively, 4715 lumbar intervertebral discs were evaluated for degeneration using a modified Pfirrmann MR classification (nondegenerated, low-grade, moderate, and high-grade degeneration), as well as for displacement. In addition to descriptive statistics, an ordinal regression analysis was performed to analyze the relationship between degeneration and the women's age, and body weight. Results: With regard to the highest degree of degeneration in each woman, 578 (61.3%) showed low-grade, 211 (22.4%) moderate, and 154 (16.3%) high-grade degeneration, and no woman had entirely nondegenerated discs. For the span from 18 to 47 years of age, moderate and high-grade degeneration increased from 6.7% to 36.7% and from 13.3% to 22.4%, respectively. Of 943 women, 57 (6%) had disc displacements, of which 97% were in conjunction with high-grade degeneration. There was a statistically significant relationship (p < 0.001) between degeneration and age, and between degeneration and body weight. Conclusions: In young pregnant women, lumbar intervertebral disc degeneration is a ubiquitous, incidental finding, increasing from the late second decade of life onward, which may be part of physiological aging, as opposed to a small percentage of incidental disc displacements.

When an incidental MRI finding becomes a clinical issue : Posterior lumbar subcutaneous edema in degenerative, inflammatory, and infectious conditions of the lumbar spine.

BACKGROUND: On magnetic resonance imaging (MRI), posterior lumbar subcutaneous edema (PLSE) is a frequent incidental, yet unclear finding within the deep subcutaneous perifascial tissue. This study aimed to investigate PLSE in various pathological lumbar conditions. METHODS: This retrospective study included the MR images of the lumbar spine of 279 patients (age range 18-82 years) without cardiovascular, renal or hepatic diseases, 79 of whom had low-grade disc degeneration, 101 combined endplate and facet joint degeneration, 53 axial spondyloarthritis and 46 infectious spondylodiscitis. There were 232 patients with a body mass index (BMI) <30, and 47 with a BMI ≥30 (obese). For each group, the relationship between PLSE and BMI was analyzed using multiple logistic regression, and between PLSE extension and BMI using ordinal regression. RESULTS: A PLSE was found in 11/79 (13.9%) patients with disc degeneration, 37/101 (36.6%) with endplate and facet joint degeneration, 7/53 (13.2%) with spondyloarthritis, and 28/46 (60.9%) with spondylodiscitis. For each group, a statistically significant relationship was demonstrated between PLSE and BMI (P = 0.000-P = 0.031), except for spondylodiscitis (P = 0.054), as well as between PLSE extension and BMI (P = 0.000-P = 0.049). A PLSE was found in 21.1% of nonobese and 72.3% of obese patients (P = 0.000). CONCLUSION: The presence of PLSE seems to be associated with various lumbar conditions, particularly in obese patients. Its perifascial location may suggest a potential fascial origin; however, PLSE should not to be confused with posttraumatic, postsurgical or infectious edema or edema associated with internal diseases.