Neurogenic heterotopic ossification of the hip: Magnetic resonance imaging versus computed tomography for pre-surgical assessment.

PURPOSE: Neurogenic heterotopic ossification (NHO) of the hip is a frequent complication of spinal cord injuries, often requiring surgical management. Pre-surgical imaging assessment is essential, usually with computed tomography (CT)-scan. We aimed to compare magnetic resonance imaging (MRI) and CT for pre-surgical imaging assessment of the NHO, particularly for their relationships with vessels and nerves. METHOD: This prospective study included consecutive patients who underwent surgery for NHO from July 2019 to April 2022. All patients had CT angiography and MRI including Zero Echo Time and TRICKS sequences. Radiologists used standardized reports for CT and MRI to evaluate NHO and their features, bone mineralization, and relation to the arteries, veins and nerves. Agreement between pre-surgical CT and MRI was evaluated. RESULTS: Twenty-four patients (mean age: 53.5 ± 12.2 years) were included, among which 7 had bilateral NHO (31 hips). NHO were anterior in 15/31 hips (48 %), multifragmented in 25/31 hips (81 %). Mild and significant demineralization was most frequent. Gutter and tunnel were reported in 11.1 % of the arteries. Nerves were more often identified in MRI than in CT-scan. Agreement coefficients between CT and MRI were excellent for NHO location (0.95) and implantation (0.92), good for fragmentation (0.70), contact with joint capsule (0.66), bone mineralization (0.74), and relation to arteries (0.85), veins (0.76), sciatic nerve (0.7) and moderate for femoral nerve (0.47). CONCLUSION: MRI exhibited a good agreement with CT for pre-surgical assessment of NHO of the hip, especially to evaluate their relationships with the arteries, veins and sciatic nerve. Femoral nerves were more often identified in MRI than in CT-scan.

The multifaceted musculoskeletal hydatid disease.

Musculoskeletal hydatid disease is rare and can be located anywhere but most commonly the bone and muscles of the spine, pelvis, then the lower limbs. Imaging is essential for its diagnosis, performing the pre-therapeutic assessment, guiding possible percutaneous treatments, and providing post-therapeutic follow-up. Musculoskeletal hydatidosis can take several forms that may suggest other infections and tumors or pseudotumors. MRI and CT are superior for its diagnosis but ultrasound and radiography remain the most accessible examinations in developing countries where this parasitosis is endemic. In this review, we provide an overview of this disease and describe its different imaging patterns in soft tissue and bone involvement that should be sought to support the diagnosis.

The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.

Filamin C-related disorders include myopathies and cardiomyopathies linked to variants in the FLNC gene. Filamin C belongs to a family of actin-binding proteins involved in sarcomere stability. This study investigates the pathogenic impact of the FLNC c.3557C > T (p.Ala1186Val) pathogenic variant associated with an early-onset cytoplasmic body myopathy and cardiomyopathy in three unrelated patients. We performed clinical imaging and myopathologic and genetic characterization of three patients with an early-onset myopathy and cardiomyopathy. Bioinformatics analysis, variant interpretation, and protein structure analysis were performed to validate and assess the effects of the filamin C variant. All patients presented with a homogeneous clinical phenotype marked by a severe contractural myopathy, leading to loss of gait. There was prominent respiratory involvement and restrictive or hypertrophic cardiomyopathies. The Ala1186Val variant is located in the interstrand loop involved in intradomain stabilization and/or interdomain interactions with neighbor Ig-like domains. 3D modeling highlights local structural changes involving nearby residues and probably impacts the protein stability, causing protein aggregation in the form of cytoplasmic bodies. Myopathologic studies have disclosed the prominent aggregation and upregulation of the aggrephagy-associated proteins LC3B and p62. As a whole, the Ala1186Val variant in the FLNC gene provokes a severe myopathy with contractures, respiratory involvement, and cardiomyopathy due to protein aggregation in patients' muscles.

Infectious sacroiliitis: MRI- and CT-based assessment of disease extent, complications, and anatomic correlation.

OBJECTIVE: To describe the frequency of MR and CT features of infectious sacroiliitis (ISI) and assess its extent and complications MATERIALS AND METHODS: This retrospective study included patients with ISI who were evaluated between 2008 and 2021 in a single center. Two radiologists reviewed MRI and CT images to determine the anatomical distribution (unilateral/bilateral, iliac/sacral bone, proximal/middle/distal), severity (bone marrow edema [BME]/periostitis/erosions), concurrent infection (vertebral/nonvertebral), and complications (abscess/probable adjacent osteomyelitis/cavitation/devitalized areas/sequestrum/pelvic venous thrombosis) of ISI. Interobserver reproducibility was assessed. Correlation analysis evaluated the effect of the causative microorganism on severity. Two human bodies were dissected to outline possible ways that ISI can spread. RESULTS: Forty patients with ISI (40 years ± 22; 26 women) were evaluated. Ten patients had bilateral ISI. Concurrent vertebral infection was associated in 15% of cases. Reproducibility of sacral BME, periostitis, and reactive locoregional abnormalities was perfect (κ = 1). Reproducibility was low for erosion count (κ = 0.52[0.52-0.82]) and periarticular osteopenia (κ = 0.50[0.18-0.82]). Inflammatory changes were BME (42/42 joints), muscle edema (38/42), and severe periostitis along the ilium (33/37). Destructive structural changes occurred with confluent erosions (iliac, 20/48; sacral, 13/48), sequestrum (20/48), and cavitation (12/48). Complications occurred in 75% of cases, including periarticular abscesses (n = 30/47), probable adjacent osteomyelitis (n = 16/37), and pelvic thrombophlebitis (n = 3). Tuberculous ISI (6/40) correlated with sclerosis (rs = 0.45[0.16; 0.67]; p < 10-2) and bone devitalization (rs = 0.38[0.16; 0.67]; p = .02). The anatomical study highlighted the shared venous vascularization of sacroiliac joints, pelvic organs, and mobile spine. CONCLUSION: Complications of ISI are frequent, including abscesses, adjacent osteomyelitis, and periostitis. ISI had bilateral involvement nonrarely and is commonly associated with another spinal infection.

In-vivo characterization of the lumbar annulus fibrosus in adults with ultrasonography and shear wave elastography.

In vivo characterization of intervertebral disc (IVD) mechanical properties and microstructure could give an insight into the onset and progression of disc pathologies. Ultrasound shearwave elastography provided promising results in children, but feasibility in adult lumbar discs, which are deep in the abdomen, was never proved. The aim of this work was to determine the feasibility and reliability of ultrasound assessment of lumbar IVD in adults. Thirty asymptomatic adults were included (22 to 67 years old). Subjects were lying supine, and the annulus fibrosus of the L3-L4 IVD was imaged by conventional ultrasonography and shearwave elastography. Shear wave speed (SWS) and lamellar thickness were measured. Reliability was determined through repeated measurements acquired by three operators. Average SWS in AF at the L3L4 level was 4.0 ± 0.9 m/s, with an inter-operator uncertainty of 8.7%, while lamellar thickness was 255 ± 27 µm with an uncertainty of 9.6%. Measurement was not feasible in one out of four subjects with BMI > 24 kg/m² (overweight). Ultrasound assessment of annulus fibrosus revealed feasible, within certain limitations, and reproducible. This method gives an insight into disc microstructure and mechanical properties, and it could be applied for the early detection or follow-up of disc pathologies.

An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.

Early onset myopathies are a clinically and histologically heterogeneous monogenic diseases linked to approximately 90 genes. Molecular diagnosis is challenging, especially in patients with a mild phenotype. We describe a 26-year-old man with neonatal hypotonia, motor delay and seizures during infancy, and non-progressive, mild muscular weakness in adulthood. Serum Creatine kinase level was normal. Whole-body muscle MRI showed thin muscles, and brain MRI was unremarkable. A deltoid muscle biopsy showed glycogen storage. WGS revealed a de novo 1.4 Mb-deletion of chromosome 14, confirmed by Array-CGH. This microdeletion causes the loss of ten genes including RALGAPA1, encoding for RalA, a regulator of glucose transporter 4 (GLUT4) expression at the membrane of myofibers. GLUT4 was overexpressed in patient's muscle. Here we highlight the importance to search for chromosomal alterations in the diagnostic workup of early onset myopathies.

Understanding a mass in the paraspinal region: an anatomical approach.

The paraspinal region encompasses all tissues around the spine. The regional anatomy is complex and includes the paraspinal muscles, spinal nerves, sympathetic chains, Batson's venous plexus and a rich arterial network. A wide variety of pathologies can occur in the paraspinal region, originating either from paraspinal soft tissues or the vertebral column. The most common paraspinal benign neoplasms include lipomas, fibroblastic tumours and benign peripheral nerve sheath tumours. Tumour-like masses such as haematomas, extramedullary haematopoiesis or abscesses should be considered in patients with suggestive medical histories. Malignant neoplasms are less frequent than benign processes and include liposarcomas and undifferentiated sarcomas. Secondary and primary spinal tumours may present as midline expansile soft tissue masses invading the adjacent paraspinal region. Knowledge of the anatomy of the paraspinal region is of major importance since it allows understanding of the complex locoregional tumour spread that can occur via many adipose corridors, haematogenous pathways and direct contact. Paraspinal tumours can extend into other anatomical regions, such as the retroperitoneum, pleura, posterior mediastinum, intercostal space or extradural neural axis compartment. Imaging plays a crucial role in formulating a hypothesis regarding the aetiology of the mass and tumour staging, which informs preoperative planning. Understanding the complex relationship between the different elements and the imaging features of common paraspinal masses is fundamental to achieving a correct diagnosis and adequate patient management. This review gives an overview of the anatomy of the paraspinal region and describes imaging features of the main tumours and tumour-like lesions that occur in the region.

Endovascular Management of Life-Threatening Hemoptysis in Primary Lung Cancer: A Retrospective Study.

OBJECTIVE: The aim of this study was to evaluate the efficacy and safety of endovascular treatment of hemoptysis caused by primary lung cancer. METHODS: We conducted a single-center retrospective study (2005-2021), including patients who underwent thoracic embolization for life-threatening hemoptysis complication of lung cancer. Exclusion criteria were hemoptysis caused by a benign lung tumor or by a lung metastasis of a primary non-lung tumor. Depending on the origin of the bleeding, determined by CT-angiography, systemic arteries were treated with microspheres or coils, and pulmonary arteries with coils, plugs or covered stents. Outcomes were assessed from patients' medical records in April 2022. Primary endpoints were clinical success at one month and at one year. Secondary endpoints were incidence of complications, 1 year overall survival, and relative risk of recurrence of hemoptysis. Survival was compared with a log-rank test. RESULTS: Sixty-two patients underwent 68 systemic artery embolizations and 14 pulmonary artery procedures. Clinical success defined as cessation of hemoptysis without any recurrence was 81% at one month and 74% at one year. Three major complications occurred: spinal cord ischemia, stroke, and acute pancreatitis. 5% of patient died from hemoptysis. One-year overall survival was 29% and was significantly higher in patients without hemoptysis recurrence when compared to patients with recurring hemoptysis (p = 0.021). In univariate analysis, recurrence of hemoptysis at one year was associated with massive hemoptysis (RR = 2.50; p = 0.044) and with tumor cavitation (RR = 2.51; p = 0.033). CONCLUSION: Endovascular treatment for primary lung cancer-related hemoptysis is effective but not uneventful.

Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.

BACKGROUND AND PURPOSE: CAV3 gene mutations, mostly inherited as an autosomal dominant trait, cause various skeletal muscle diseases. Clinical presentations encompass proximal myopathy, distal myopathy, or isolated persistent high creatine kinase (CK) with a major overlapping phenotype. METHODS: Twenty-three patients with CAV3 symptomatic mutations, from 16 different families, were included in a retrospective cohort. Mean follow-up duration was 24.2 ± 15.0 years. Clinical and functional data were collected during the follow-up. The results of muscle imaging, electroneuromyography, muscle histopathology, immunohistochemistry, and caveolin-3 Western blot analysis were also compiled. RESULTS: Exercise intolerance was the most common phenotype (52%). Eighty percent of patients had calf hypertrophy, and only 65% of patients presented rippling. One patient presented initially with camptocormia. A walking aid was required in only two patients. Electroneuromyography was mostly normal. CK level was elevated in all patients. No patient had cardiac or respiratory impairment. Muscle imaging showed fatty involvement of semimembranosus, semitendinosus, rectus femoris, biceps brachialis, and spinal muscles. Almost all (87%) of the biopsies were abnormal but without any specific pattern. Whereas a quarter of patients had normal caveolin-3 immunohistochemistry results, Western blots disclosed a reduced amount of the protein. We report nine mutations, including four not previously described. No phenotype-genotype correlation was evidenced. CONCLUSIONS: Caveolinopathy has diverse clinical, muscle imaging, and histological presentations but often has limited functional impact. Mild forms of the disease, an atypical phenotype, and normal caveolin-3 immunostaining are pitfalls leading to misdiagnosis.

A severe case of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report.

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare genetic disorder combining congenital hypotonia, congenital/early onset and progressive kyphoscoliosis, and generalized joint hypermobility. Vascular fragility is another characteristic of the disease rarely described. We report a severe case of kEDS-PLOD1 with several vascular complications leading to difficulties in disease management.

Endovascular treatment of haemorrhagic pancreatic serous cystadenoma.

BACKGROUND: Pancreatic microcystic serous cystadenoma are rare benign pancreatic tumors. No treatment is needed in most cases as this lesion is often discovered incidentally. Surgery is not required except in symptomatic cases. CASE PRESENTATION: We report herein a rare case of pancreatic serous cystadenoma complicated with a hemorrhage in a 95 years old patient treated with arterial embolization since surgery was not possible. The patient recovered without any adverse events or bleed recurrence in the 6 months following the procedure. CONCLUSION: Hemorrhage secondary to a pancreatic serous cystadenoma was successfully treated with arterial embolization, which may represent an alternative therapeutic option to surgery.

Effect of an enteral amino acid blend on muscle and gut functionality in critically ill patients: a proof-of-concept randomized controlled trial.

BACKGROUND: A defining feature of prolonged critical illness is muscle wasting, leading to impaired recovery. Supplementation with a tailored blend of amino acids may bolster the innate gut defence, promote intestinal mucosa repair and limit muscle loss. METHODS: This was a monocentric, randomized, double-blind, placebo-controlled study that included patients with sepsis or acute respiratory distress syndrome. Patients received a specific combination of five amino acids or placebo mixed with enteral feeding for 21 days. Markers of renal function, gut barrier structure and functionality were collected at baseline and 1, 2, 3 and 8 weeks after randomization. Muscle structure and function were assessed through MRI measurements of the anterior quadriceps volume and by twitch airway pressure. Data were compared between groups relative to the baseline. RESULTS: Thirty-five critically ill patients were randomized. The amino acid blend did not impair urine output, blood creatinine levels or creatinine clearance. Plasma citrulline levels increased significantly along the treatment period in the amino acid group (difference in means [95% CI] 5.86 [1.72; 10.00] nmol/mL P = 0.007). Alanine aminotransferase and alkaline phosphatase concentrations were lower in the amino acid group than in the placebo group at one week (ratio of means 0.5 [0.29; 0.86] (P = 0.015) and 0.73 [0.57; 0.94] (P = 0.015), respectively). Twitch airway pressure and volume of the anterior quadriceps were greater in the amino acid group than in the placebo group 3 weeks after randomization (difference in means 10.6 [0.99; 20.20] cmH20 (P = 0.035) and 3.12 [0.5; 5.73] cm3/kg (P = 0.022), respectively). CONCLUSIONS: Amino acid supplementation increased plasma citrulline levels, reduced alanine aminotransferase and alkaline phosphatase levels, and improved twitch airway pressure and anterior quadriceps volume. Trial registration ClinicalTrials.gov, NCT02968836. Registered November 21, 2016.

Classical Ehlers-Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2.

We described a novel de novo missense variant of the gene encoding Collagen alpha-2(V) chain, associated with the classical Ehlers-Danlos syndrome (cEDS) (OMIM#130010), in a 14-year-old patient who presented with congenital and severe scoliosis, muscle hypotonia, ocular manifestations, and no atrophic scaring. This case expands the phenotypic spectrum of cEDS.

Elevation of brain ADC (apparent diffusion coefficient) in HIV-associated neurocognitive disorders and evolution after treatment: A pilot study.

BACKGROUND: Thirty to 50% of HIV-infected patients develop HIV-Associated Neurocognitive Disorders (HAND) despite virological control. The previously published Neuro+3 study showed their neurocognitive status can be improved by intensifying antiviral therapy. Our study is a part of the Neuro3+ study and aims to study apparent diffusion coefficient (ADC) as a biomarker for neurological improvement. PATIENTS AND METHODS: We prospectively included 31 patients with HAND. They received therapy with better CNS Penetration Effectiveness (CPE) score with two-year follow-up. Cognitive status was assessed at day 0 (D0) and week 96 (W96) using Frascati 3-stage classification and Global Deficit Score (GDS). Brain MRI at D0 and W96 assessed morphological data (white matter hyperintensities, opportunistic infections, ischemic lesions, atrophy) and measured whole brain apparent diffusion coefficient (ADC). We compared their data with a control group of 20 healthy patients with similar ages and sex ratio. RESULTS: After ARV intensification, cognitive status was significantly improved: GDS (n = 1,4 vs 1,0 p = 0.01) and Frascati scale (2HAD/22MND/7ANI vs 1HAD/8MND/17ANI p = 0.001). Mean ADC was significantly higher in patients at inclusion than in controls (0.88 × 10-3 mm2/s ± 0.06 vs 0.81 × 10-3 mm2/s ± 0.04, p = 0.0001). ADC decreased after treatment (0.88 × 10-3 mm2/s ± 0.06 vs 0.85 × 10-3 mm2/s ± 0.06 (p = 0,04). In subgroup analysis, ADC significantly decreased in clinically improved patients (0.89 × 10-3 mm2/s ± 0.07 vs 0.85 × 10-3 mm2/s ± 0.07 (p = 0,03)) and did not significantly change in non-clinically improved patients (0.86 × 10-3 mm2/s ± 0.07 vs 0.84 × 10-3 mm2/s ± 0.07 (p = 0,31)). After treatment, there was no significant difference between patients and controls (0.85 × 10-3 mm2/s ± 0.06 vs 0.81 × 10-3 mm2/s ± 0.04, p = 0.17). CONCLUSION: Whole-brain ADC is a good biomarker of HIV-associated neurocognitive disorders. It is significantly increased in patients with HAND compared with controls and significantly decreases after treatment. It is all the more important to have a quantitative biomarker as conventional imaging does not contribute to the diagnosis.

Heterotopic ossification and COVID 19: Imaging analysis of ten consecutive cases.

PURPOSE: Heterotopic ossification (HO) is defined by the formation of mature lamellar bone in periarticular soft tissue due to prolonged immobility. This study aimed to explore the imaging features of HOs in immobilized COVID-19 patients compared to other causes previously described in the literature. METHOD: This retrospective single centre study included patients with severe COVID-19 hospitalized in intensive care unit (ICU) with mechanical ventilation and affected by HOs between March 2020 and December 2021. Two radiologists reviewed imaging features of biphasic CT-scans using a standardized template including morphological findings and anatomical relationship of the HO with the joint, vessels and nerves. RESULTS: 10 COVID-19 patients with 19 analyzed HOs following ICU hospitalization were including. Biphasic CT imaging characteristics were analyzed. The hips were the most commonly affected joint (n = 14/19; 74%). The distribution was mainly posterior (n = 7/19; 38%). HOs were located away from main arteries. No case of severe demineralization was observed. Capsular disruption was observed for three HOs (n = 3/19; 16%). One patient presented concomitant venous thrombosis ipsilateral to the HO. CT-scan demonstrated neural involvement of the sciatic nerve in 3 patients with HO (n = 3/19; 16%). CONCLUSION: Severe COVID-19 patients with a biphasic CT imaging presented HO mainly located around the hips, with rare vessel and nerve invasion and no severe demineralization. Some features such as a lower level of local invasion differ from HOs related to other disorders as described in the literature whereas morphological aspects are similar.

Usefulness of Longitudinal Strain Adjusted to Regional Thickness in Hypertrophic Cardiomyopathy.

Background. We assessed the usefulness of a longitudinal strain adjusted to regional thickness in hypertrophic cardiomyopathy (HCM). Indeed, with conventional software, the width of the region of interest (ROI) is the same over the entire myocardial wall, wherein the software analyzes only partially the left ventricular (LV) hypertrophic segments. Methods. We included 110 patients: 55 patients with HCM (HCM group) and 55 healthy subjects (age- and sex-matched control group). The global longitudinal strain (GLS) and regional strain for each of the 17 segments was calculated with standard software (for two groups) and with software adjusted to the myocardial wall thickness (for the HCM group). Results. GLS was significantly decreased in the HCM group compared to the control group (−15.1 ± 4.8% versus −20.5 ± 4.3%, p < 0.0001). In the HCM group, GLS (standard method versus adjusted to thickness) measurements were not significantly different (p = 0.34). Interestingly, the regional strain adjusted to thickness was significantly lower than the standard strain in the hypertrophic segments, especially in the basal inferoseptal segment (p = 0.0002), median inferoseptal segment (p < 0.001) and median anteroseptal segment (p = 0.02). The strain adjusted to thickness was still significantly lower in the most hypertrophic segments (≥20 mm) (−3.7 ± 3%, versus −5.9 ± 4.4%, p = 0.049 in the basal inferoseptal segment and −5.7 ± 3.5% versus −8.3 ± 4.5%, p = 0.0007 in the median inferoseptal segment). In the segments with significant myocardial fibrosis, the longitudinal strain adjusted to thickness was significantly lower than the conventional strain (−8.3 ± 3.3% versus −11.4 ± 4.5%, p = 0.002). The analysis of the strain adjusted to thickness had a better feasibility (97.5% versus 99%, p = 0.01). Conclusions. The analysis of a longitudinal strain adjusted to regional thickness is feasible in HCM and allows a better evaluation of myocardial deformation, especially in the most LV hypertrophic segments.

Transient modifications of the olfactory bulb on MR follow-up of COVID-19 patients with related olfactory dysfunction.

BACKGROUND: Olfactory dysfunction (OD) has been reported with a high prevalence on mild to moderate COVID-19 patients. Previous reports suggest that volume and signal intensity of olfactory bulbs (OB) have been reported as abnormal on acute phase of COVID-19 anosmia, but a prospective MRI and clinical follow-up study of COVID-19 patients presenting with OD was missing, aiming at understanding the modification of OB during patients'follow-up. METHODS: A prospective multicenter study was conducted including 11 COVID-19 patients with OD. Patients underwent MRI and psychophysical olfactory assessments at baseline and 6-month post-COVID-19. T2 FLAIR-Signal intensity ratio (SIR) was measured between the average signal of the OB and the average signal of white matter. OB volumes and obstruction of olfactory clefts (OC) were evaluated at both evaluation times. RESULTS: The psychophysical evaluations demonstrated a 6-month recovery in 10/11 patients (90.9%). The mean values of OB-SIR significantly decreased from baseline (1.66±0.24) to 6-month follow-up (1.35±0.27), reporting a mean variation of -17.82±15.20 % (p<0.001). The mean values of OB volumes significantly decreased from baseline (49.22±10.46 mm3) to 6-month follow-up (43.70±9.88 mm3), (p=0.006). CONCLUSION: Patients with demonstrated anosmia reported abnormalities in OB imaging that may be objectively evaluated with the measurement of SIR and OB volumes. SIR and OB volumes significantly normalized when patient recovered smell. This supports the underlying mechanism of a transient inflammation of the OB as a cause of Olfactory Dysfunction in COVID-19 patients.

Macroglossia: A potentially severe complication of late-onset Pompe disease.

BACKGROUND: Pompe disease is a rare neuromuscular disorder caused by a deficiency of a lysosomal enzyme, acid α-glucosidase. Macroglossia is a classic clinical sign of several inherited myopathies and has also been reported to occur progressively in late-onset Pompe disease (LOPD). METHODS: We describe patients with LOPD and macroglossia included in the French national Pompe disease registry. Clinical, functional, and radiological data were collected during periodic follow-up and analyzed retrospectively. These cases were compared with 15 previously reported cases. RESULTS: Five patients, three females and two males, aged 71-88 years, were included in this study. All but one of the patients suffered from symptoms related to macroglossia before the diagnosis of Pompe disease. Three had localized tongue atrophy and one had significant localized tongue hypertrophy which led to glossectomy 10 years before diagnosis. Two patients had severe dysphagia, one of whom underwent gastrostomy for enteral nutritional support. One patient experienced the persistence of numerous sleep apneas despite nocturnal bilevel positive airway pressure (BiPAP) ventilation. All our patients had dysarthria, and two required speech therapy. Four patients had a tongue hypersignal on magnetic resonance imaging (MRI) T1 sequences. CONCLUSIONS: Detection of macroglossia should be part of the clinical diagnosis and follow-up of patients with LOPD, with a careful evaluation of its main consequences. Macroglossia can have severe functional impacts on speech, swallowing, and sleep. Whole-body MRI with facial sections may facilitate the early diagnosis of Pompe disease with the "bright tongue sign".

High parasternal intercostal muscle thickening prior to intubation in COVID-19 infection.

Acute hypoxemic respiratory failure (AHRF) is a major complication of COVID-19 pneumonia and parasternal intercostal muscle thickening may be used as a biomarker to assess inspiratory effort. We report the case of a high utilization of parasternal intercostal muscle prior to the introduction of invasive ventilation in a 66-year old male none vaccinated COVID -19 patient admitted in hospital because of AHRF.