Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.

This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the relevant literature. The cases involved two fetuses exhibiting bone bowing, which led to the diagnosis of GDD. Genetic testing revealed two de novo variants of the ANO5 gene, confirming the diagnosis. A literature review was conducted to explore GDD's clinical and paraclinical presentation, diagnosis, and management. GDD is a rare but frequently inherited cause of bone fragility and jaw lesions characterized by a gain-of-function variant within the ANO5 gene. Clinical manifestations range from recurrent dental infections with mild jaw lesions to severe bone fragility with several fractures associated with large jaw lesions requiring disfiguring surgeries. Diagnostic techniques depend on the context and include targeted genetic testing of ANO5, untargeted molecular analysis with whole-exome sequencing, or whole-genome sequencing. This case report highlights the importance of recognizing GDD as a novel cause of bone bowing and fractures during pregnancy. By summarizing the literature, this article contributes to healthcare professionals' knowledge and improves the recognition, diagnosis, and care of patients with GDD.

Metaphyseal and Diaphyseal Contours: Variants and Pitfalls.

We discuss several variants of the metaphyseal and diaphyseal bone surfaces that may be misleading in clinical practice. They include metaphyseal stripes, spiculated metaphyseal cortex, cortical desmoid, laminated lateral supracondylar ridge, cortical vascular canals, variations in shape or lucency of normal tuberosities, cortical thickening of normal ridges, and well-organized undulated hyperostosis at the proximal phalanges.

The too-long anterior process and osteochondral lesion of the talus: Is there an anatomical predisposition? A case-control study on 135 feet.

INTRODUCTION: The too-long anterior process (TLAP) increases mechanical stress on the hindfoot and could lead to osteochondral lesions of the talus (OLT) by localized hyper-pressure. The purpose of this study is to investigate an association between TLAP and OLT in children. METHODS: This is a retrospective, multicenter, case-control study conducted between 2010 and 2020. The OLT group was compared to a control group (CoG). TLAP is characterized by a distance between the anteromedial process of the calcaneus and the navicular bone (CN) of< 5 mm. RESULTS: Forty-three feets were included in the OLT group and 92 in the CoG. The OLT group had a lower CN distance on CT than the CoG, a median of 2.8 mm versus 3.75 mm (p = 0.002); 86% of patients (37 feet/43) in the OLT group had a CN distance of< 5 mm (OR=3.0 [1.1; 9.5], p = 0.023) compared to 67% in the CoG. DISCUSSION: The OLT group had an increased risk of developing TLAP compared to the CoG. LEVEL OF EVIDENCE: III.

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib.

PIK3CA-related overgrowth spectrum (PROS) includes rare genetic conditions due to gain-of-function mutations in the PIK3CA gene. There is no approved medical therapy for patients with PROS, and alpelisib, an approved PIK3CA inhibitor in oncology, showed promising results in preclinical models and in patients. Here, we report for the first time the outcome of two infants with PROS having life-threatening conditions treated with alpelisib (25 mg) and monitored with pharmacokinetics. Patient 1 was an 8-mo-old girl with voluminous vascular malformation. Patient 2 was a 9-mo-old boy presenting with asymmetrical body overgrowth and right hemimegalencephaly with West syndrome. After 12 mo of follow-up, alpelisib treatment was associated with improvement in signs and symptoms, morphological lesions and vascular anomalies in the two patients. No adverse events were reported during the study. In this case series, pharmacological inhibition of PIK3CA with low-dose alpelisib was feasible and associated with clinical improvements, including a smaller size of associated complex tissue malformations and good tolerability.

Chest computed tomography findings for a cohort of children with pulmonary Langerhans cell histiocytosis.

OBJECTIVE: This study was undertaken to describe the spectrum of lung computed-tomography (CT) findings in children with pulmonary Langerhans cell histiocytosis (PLCH) and to evaluate for this population the CT-scan nodule and cyst scores proposed by adult pulmonologists at diagnosis and during follow-up. METHODS: Among 175 children with PLCH identified in the French national population-based Langerhans cell histiocytosis cohort, 60 were retrospectively selected by the availability of CT for a central review by three pediatric radiologists. These 60 patients are representative of childhood PLCH for almost all clinical aspects, except a lower percentage of risk organ involvement (38% vs 54%; P = 0.05). RESULTS: The 60 children's chest CT scans (n = 218) were reviewed. At diagnosis, 63% of them had nodules, 53% had cysts, and 29% had both. The percentages of patients with nodules or cysts increased from diagnosis to peak disease activity, respectively, from 63% to 73% and from 53% to 66%. The costophrenic angle was involved in 71%. Patients with pneumothorax (25%) had a higher median cyst score. Alveolar consolidation was observed in 34%. Patients with low CT-scan nodule and cyst scores had no long-term pulmonary sequelae. CONCLUSIONS: Well-known characteristics of adult PLCH (nodules and cysts) were observed in children. The chest CT scores proposed by adult pulmonologists could easily be applied to childhood PLCH. Lesions in children, unlike those in adults, are frequently located near the costophrenic angles. Alveolar consolidation might be considered an atypical feature of childhood PLCH.

Radiographic/MR Imaging Correlation of the Pediatric Knee Growth.

Normal bone growth of the pediatric knee as well as normal variants of ossification result in different appearances that can be identified on imaging (radiography/MR imaging). Familiarity with these changes is important to avoid confusing normal growth with pathology. This article illustrates the main features related to normal bone growth (growth arrest lines, physeal changes, ossification centers within the epiphysis, hematopoietic marrow within the metaphysis) and physis disappearance (« FOPE ¼). Variants in femur (epiphyseal irregularities, subchondral anomalies of posterior condyles, periosteal desmoid), tibia (tibial tuberosity ossification), and patella (dorsal defect, bipartite patella, lower pole fragmentation) are also described.

Prospective evaluation of free-breathing diffusion-weighted imaging for the detection of inflammatory bowel disease with MR enterography in childhood population.

OBJECTIVE: To evaluate prospectively the performance of diffusion-weighted imaging (DWI) for the detection of active lesions on MR enterography (MRE) in children with inflammatory bowel disease (IBD). METHODS: MRE of 48 children (mean age 13 years) with suspected or known IBD were blindly analysed by 2 independent readers for the presence of active lesions. Two sets of imaging including DWI and gadolinium-enhanced imaging (GEI) were reviewed. A reader consensus was obtained. The gold standard was histopathological findings. In patient-level analysis and segment-level analysis, sensitivity and specificity were calculated for DWI and GEI and compared using McNemar's test or logistic random-effects models. RESULTS: At least 1 active lesion was confirmed in 42 (87.5%) children. Sensitivity and specificity for the detection of at least one lesion were 88.1% (95% CI, 74.3-96.1) and 83.3% (95% CI, 35.9-99.6), respectively, for DWI and 66.7% (95% CI, 50.4-80.4) and 83.3% (95% CI, 35.9-99.6), respectively, for GEI. In segment-level analysis, sensitivity and specificity for the detection of specific segment lesions were 62.5% (95% CI, 48.1-75) and 97.1% (95% CI, 93.5-98.7), respectively, for DWI and 45.7% (95% CI, 30.8-61.3) and 98.2% (95% CI, 95.3-99.4), respectively, for GEI. The sensitivity of DWI was significantly better than that of GEI per patient (p = 0.004) and per segment (p = 0.028). CONCLUSION: DWI demonstrates better performance than GEI for the detection of active lesions in children with IBD. ADVANCES IN KNOWLEDGE: Examination with no intravenous injection-DWI can replace T1 weighted images when paediatric patients are screened with MRE for IBD. Examination performed in free breathing is better tolerated by children.

Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions.

INTRODUCTION: Tuberous sclerosis complex (TSC) involves frequently the kidneys. Lesions encompass mainly angiomyolipoma and cysts. The disease can be associated with autosomal dominant polycystic kidney disease leading to the contiguous gene syndrome (CGS) The objectives of the present study were to review the US appearances of the renal involvement in children affected by classical TSC or by the CGS and to verify whether it is possible to differentiate between both entities. The evolution of the lesions through time was also studied. MATERIALS AND METHODS: 55 cases of patients <16 years with STB were reviewed by two pediatric radiologists. Clinical data reviewed included age at diagnosis, genetic assessment and complications; US data reviewed included renal size, type of lesions (angiomyolipoma-AML, or cysts), number and location as well as their evolution with time. Complications were also analyzed. RESULTS: 30 patients (56 %) had at least one kidney lesion (27 classical TSC and 3 CGS). On the basis of the US findings, these patients were separated into four groups. Group 1 (9 patients) displayed microscopic (diffuse) AML; group 2 (3 patients) displayed macroscopic AML; group 3 (9 patients) displayed only renal cysts and group 4 (9 patients) displayed the association of AML and cysts. Increased renal size, the large number and size of cystic lesions were suggestive of the CGS. The isolated AML were suggestive of classical STB. The average growth of angiomyolipoma was low before age of 12 and exceeded 4 mm/year thereafter. CONCLUSION: In children with TSC, renal involvement is common. Some US criteria can help to suggest the diagnosis of CGS. The growth of angiomyolipoma is slow before 12 years and accelerates thereafter. Complications are rare.

Association between Kniest dysplasia and chondrosarcoma in a child.

Constitutive COL2A1 mutations are associated with a wide variety of clinical manifestations known as type II collagenopathies. Among them is Kniest dysplasia, which is phenotypically variable and includes both skeletal (short trunk and limbs, kyphoscoliosis, prominent joints, and osteoarthritis) and craniofacial characteristics. Kniest dysplasia mutations primarily arise in the triple-helicoidal region of the alpha 1 (II) chain in COL2A1 between exons 12 and 24. Somatic COL2A1 mutations have been identified in chondrosarcoma, a rare cartilage forming neoplasm, with a hypermutability of the gene reported in 37% of cases. However, to the best of our knowledge, there is no reported increase in predisposition to chondrosarcoma in human collagenopathies, and no reported clinical association between these congenital diseases and cartilaginous tumors. In the case study presented here, we report the first description of an association between these two rare diseases involving COL2A1, in a child presenting with Kniest dysplasia and a grade I sphenoethmoidal chondrosarcoma. We also describe a new constitutive mutation in COL2A1.

Skeletal involvement in Langerhans cell histiocytosis.

UNLABELLED: Langerhans cell histiocytosis (LCH) represents a disorder characterised by an abnormal accumulation of histiocytes in miscellaneous tissues. The bone is commonly affected, especially the flat bones, the spine and the long bones. Some lesions in children such as a "vertebra plana" or a solitary lytic lesion of the skull may be suggestive for LCH, whereas others can be confused with a malignant tumour or osteomyelitis. This pictorial essay presents the main usual and unusual skeletal manifestations observed in LCH. TEACHING POINTS: • Osseous involvement in children with LCH is very similar to that seen in multiple myeloma. • A solitary lytic lesion of the cranial vault is a typical radiographic finding of LCH. • A vertebra plana appearance in the spine is another typical radiographic finding. • Extensive signal intensity changes within bone marrow on MRI are a helpful sign for the diagnosis. • In long bones, endosteal scalloping may be responsible for a "budding appearance".

Low-dose biplanar skeletal survey versus digital skeletal survey in multiple myeloma.

OBJECTIVES: To evaluate the low-dose biplanar (LDB) skeletal survey (SS) for the assessment of focal bone involvement in patients with multiple myeloma (MM) as compared with digital SS and to compare the two techniques in terms of image quality, patient comfort and radiation exposure. METHODS: Fifty-six consecutive patients with newly diagnosed or first relapsed MM underwent LDB and digital SS on the same day. These were assessed by two radiologists for the detection of focal bone lesions. In the case of discordance, whole-body MR imaging was performed. Image quality, patient comfort and radiation dose were also assessed. RESULTS: Fifty-six patients (M:30, F:26, mean age, 62 years) with newly diagnosed (n = 21) or first relapse MM (n = 35) were enrolled. A total of 473 bone lesions in 46 patients (82 %) were detected. Out of that total, digital SS detected significantly more lesions than LDB SS (451 [95.35 %] versus 467 [98.73 %]), especially in osteopenic and obese patients. Overall patient satisfaction was greater with LDB SS (48.6 %) compared with digital SS (2.7 %). The radiation dose was significantly reduced (by a factor of 7.8) with the LDB X-ray device. CONCLUSIONS: Low-dose biplanar skeletal surveys cannot replace digital SS in all patients suffering from multiple myeloma. KEY POINTS: • Low-dose biplanar skeletal surveys can readily assess bone lesions in multiple myeloma. • In marked radiographic osteopenia and obesity, LDB SS diagnostic performance is reduced. • Low-dose biplanar skeletal surveys cannot yet replace digital SS in all MM patients.

Bilateral dysplasia epiphysealis hemimelica of the talus associated with a lower leg intramuscular cartilaginous mass.

Dysplasia epiphysealis hemimelica (DEH), or Trevor disease, is a rare skeletal dysplasia characterised by an osteocartilaginous mass arising from an epiphysis. It affects single or multiple epiphyses in children, usually in the lower limb, predominantly the knee and ankle. Bilateral involvement is extremely rare, with only four cases reported in the literature to date. We report an additional case of bilateral DEH of the talus in a 14-year-old girl with an associated, not previously reported, intramuscular cartilaginous mass of the left lower leg. Clinical, radiological and pathological findings are presented. We emphasise the role of MRI and US in the diagnosis of DEH.

Ultrasound and magnetic resonance imaging of the peripheral nerves: current techniques, promising directions, and open issues.

High-resolution ultrasound (US) and magnetic resonance (MR) imaging are the two imaging methods of choice for the study of peripheral nerves. The many advances that have been made in recent years, either by US or MR imaging, including diffusion tensor imaging and tractography, offer new perspectives for the assessment of many pathological processes affecting peripheral nerves such as entrapment syndromes, tumors and tumor-like lesions, and traumatic disorders. Most of these improvements have especially increased the spatial resolution of nerve imaging. US and MR imaging are complementary, each having advantages and disadvantages. Tractography is still emerging in the musculoskeletal field, particularly for the analysis of peripheral nerves, but this technique seems promising.

Sonographic assessment of the lateral femoral cutaneous nerve.

PURPOSE: To evaluate the ability of high-frequency sonography to evaluate the lateral femoral cutaneous nerve (LFCN). METHODS: A cadaveric study was performed on 5 cadavers to outline the normal course of the LFCN. Next, 37 LFCNs in 21 volunteers were evaluated via sonography with a 5-13-MHz linear-array transducer. RESULTS: The LFCN was easily identified in our dissections. It always entered the thigh under the inguinal ligament and coursed superficially to the sartorius muscle. In 2/10 (20%) cases, anatomical variants were observed. Sonography revealed the LFCN in 26/37 (70%) cases. The relationships of the nerve with the deep circumflex iliac artery, the anterior superior iliac spine, and the sartorius were visualized. Neuromas were observed bilaterally in 1 volunteer. CONCLUSION: The LFCN can be seen in the groin with the aid of sonography.

Early rheumatoid arthritis: a review of MRI and sonographic findings.

OBJECTIVE: The introduction of anti-tumor necrosis factor alpha agents has opened new prospects in therapeutic management of patients with early rheumatoid arthritis, thereby creating new demands on radiologists to identify patients with aggressive disease at an early stage. As a result, imaging techniques such as MRI and sonography have developed during the past few years. CONCLUSION: This article illustrates the imaging findings that may be encountered with these techniques in patients with early rheumatoid arthritis.

Imaging of the hip in patients with rheumatic disorders.

Hip joint abnormalities are commonly encountered in patients with rheumatic disorders. Although conventional radiography remains the mainstay for diagnosis of joint damage and subsequent follow-up, magnetic resonance imaging and, to a lesser extent, ultrasound have afforded the ability to detect early signs of articular involvement (i.e., synovitis and bone erosions), and to assess disease activity in treated patients. In more advanced stages of rheumatic disorders, magnetic resonance imaging and ultrasound are both useful in assessing paraarticular involvement (i.e., bursitis and synovial cysts).

MR imaging appearance of rheumatoid arthritis in the foot.

Although conventional radiographs remain the initial mainstay for imaging of the foot in patients with rheumatoid arthritis (RA), magnetic resonance (MR) imaging has afforded the ability to detect early signs of the disease (i.e., synovitis, tenosynovitis, bone lesions, and bursitis), especially at the forefoot. In addition, the relatively symmetric distribution of the imaging abnormalities depicted in the metatarsophalangeal joints and the frequent involvement of the retro-calcaneal bursitis are almost specific for RA. In more advanced stages of the disease, MR imaging is well suited to evaluation of the hindfoot joints and tendons as well as the musculoskeletal complications of RA (e.g., tendon disruption, rheumatoid nodules, sinus tarsi syndrome).

Contribution of percutaneous biopsy to the definite diagnosis in patients with suspected bone tumor.

OBJECTIVES: Percutaneous biopsy is widely used for the diagnosis of primary and secondary bone malignancies. The primary objective of this study was to evaluate the contribution of percutaneous biopsy to the definite diagnosis in patients with suspected bone tumor. The secondary objective was to assess the potential diagnostic benefits of a second percutaneous biopsy when the first failed to provide the diagnosis. METHODS: We retrospectively reviewed 108 percutaneous biopsies of bone lesions in 89 patients admitted to our rheumatology department from January 1994 to December 2001. There were 61 men and 28 women with a mean age of 59 years. The biopsies were done under computed tomography guidance in 68 patients and fluoroscopy in 21 patients. RESULTS: The diagnostic yield of percutaneous biopsies was 68.5% overall and was significantly higher in patients with metastatic bone disease (100%) than in patients with primary tumors (83%) or hematological malignancies (58%) (P = 0.0004 and P < 0.0001, respectively). Yields were higher for peripheral lesions (85%) than for vertebral (65%) and pelvic (60%) lesions. Yields were 87% for lytic lesions, 66% for sclerotic lesions, and 50% for mixed lesions. When soft tissues were sampled, the yield was 100%, as compared to 86% for biopsies composed only of bone. CONCLUSION: Percutaneous biopsy of suspected bone tumors is a safe and inexpensive procedure that consistently ensures the diagnosis of bone metastases. The diagnostic yield is lowest in patients with bone lesions caused by hematological malignancies. When two biopsies fail to provide the diagnosis, further biopsies are unlikely to be helpful.

Bone structure of the calcaneus: analysis with magnetic resonance imaging and correlation with histomorphometric study.

The purpose of this study was to compare structural measurements obtained from MR images of the calcaneus with those obtained from conventional histomorphometry. Sagittal magnetic resonance (MR) images of the calcaneus of 24 fresh human cadaveric feet were obtained at a spatial resolution achievable in vivo. A three-dimensional gradient echo-sequence was used with a slice thickness of 700 microm and in plane resolution of 172 x 172 microm. Structural analysis (four histomorphometric parameters; seven connectivity parameters) was performed in the superior region of the calcaneus. Bone biopsy specimens were obtained in the same area and were sectioned for histomorphometric study. Most of the MR histomorphometric parameters were overestimated (by a factor ranging from 0.8 to 3), as compared with histomorphometry. However, significant ( P<0.05) correlations were found between MR imaging and histomorphometric measurements for bone volume/tissue volume, trabecular separation, trabecular number, star volume of the marrow space, node count and terminus count. MR histomorphometric parameters correlated much better with histomorphometry than connectivity parameters. This study suggests that structural parameters characterizing cancellous bone in the calcaneus can be derived from MR images in the limited spatial resolution regime applicable in vivo.

Sonographic mapping of the normal brachial plexus.

BACKGROUND AND PURPOSE: Mapping of the brachial plexus with MR imaging has been reported and may have potential clinical applications (eg, precise localization of traumatic or tumoral nerve lesions, selective anesthesia of the brachial plexus). We sought to demonstrate that mapping of the brachial plexus may be performed by means of sonography. METHODS: Twelve healthy adult volunteers (seven women and five men; age range, 24-38 years; mean, 31 years) underwent bilateral sonographic examination for the assessment of the nerve structures of the brachial plexus from the extraforaminal part to the axillary part. Four formolated cadavers (two male and two female; age range, 66-84 years; mean, 77.5 years) were frozen and sawed into 3-mm-thick contiguous sections in the same plane as that used for the sonographic exploration. RESULTS: A satisfactory sonographic examination was performed in 10 of 12 volunteers, leading to a good association with anatomic sections. Two volunteers were excluded from the study because a clear depiction of the brachial plexus was difficult owing to a short neck and low echogenicity at examination. The association between sonographic images and anatomic sections allowed us to map the brachial plexus. The subclavian and deep cervical arteries were useful landmarks for this mapping. The eighth cervical nerve root and the first thoracic nerve root were the most difficult part of the brachial plexus to depict because of their deep location. CONCLUSION: The brachial plexus can be mapped with sonography. However, this technique requires a good grounding in anatomy and may be impossible in short-necked individuals.