[Rare presentations of infantile hemangiomas: 4 cases]. / Présentations rares d'hémangiomes infantiles : 4 cas.

BACKGROUND: Infantile hemangioma (IH) is a common benign vascular tumor in children. In most cases, diagnosis is based entirely on clinical examination. When the diagnosis is uncertain, the first-line complementary examination is Doppler ultrasound. We report 4 cases of atypical infantile hemangiomas with delayed diagnosis and non-contributory imaging. PATIENTS AND METHODS: One child had congenital purple papules and nodules on the back of the foot, the second had inaugural ulceration of the buttocks, and the last two presented telangiectasia, either isolated or on an erythematous macula. In two cases, ultrasound showed no vascular lesions, and in the other two cases, the absence of hyperemia did not allow a diagnosis of IH to be made. For one patient, diagnosis was made on the basis of cutaneous biopsy, and for the other three, on the basis of clinical course. DISCUSSION: We report 4 rare forms of infantile hemangioma resulting in initial diagnostic error. The atypical nature of some IHs may direct the clinician and the radiologist toward other diagnoses that in some cases have no vascular contingent. It is important for the dermatologist to be aware of these rare forms of IH in order to reduce the time to diagnosis and allow early initiation of appropriate management.

30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case.

Patients under 5 years were not evaluated in the phase-3 study for enzyme replacement therapy (ERT) in MPS IV A. Here we describe the evolution of a severe Morquio A pediatric patient who was diagnosed at 19 months old and treated by ERT at 21 months old for the next 30 months. Applying the standard ERT protocol on this very young patient appeared to reduce his urinary excretion of glycosaminoglycans (GAGs); the improvements in both the 6 minute-walk test (6MWT) and the stair climb test, however, were no different than those reported in the nature history study. Additionally, this young patient experienced many ERT-associated side effects, and as a result a specific corticosteroid protocol (1 mg/kg of betamethasone the day before and 1 h before the ERT infusion) was given to avoid adverse events. Under these treatments, the height of this patient increased during the first year of the ERT although no more height gain was observed thereafter for 18 months. However, despite of ERT, his bone deformities (including severe pectus carinatum) actually worsened and his medullar cervical spine compression showed no improvement (thus needed decompression surgery). CONCLUSION: early ERT treatment did not improve the bone outcome in this severe MPS IV A patient after the 30 months-long treatment. A longer term follow up is required to further assess the efficacy of ERT on both the motor and the respiratory function of the patient.

The reliability of the anterior pelvic plane for computer navigated acetabular component placement during total hip arthroplasty: prospective study with the EOS imaging system.

INTRODUCTION: Computer navigated total hip arthroplasty is mostly based on the use of the anterior pelvic plane (APP) as a reference. EOS is a new imaging system that provides three-dimensional analysis of the pelvis in a functional position with a low dose of radiation. The aim of this study was to evaluate the reliability of the APP for placement of the cup during computer navigated THA using EOS. HYPOTHESIS: The reliability of the APP is limited for the placement of the acetabular cup during computer navigated THA. MATERIALS AND METHODS: This was a prospective monocentric study using the EOS imaging system evaluating 44 patients in the standing position three months after computer navigated THA (Orthopilot). Reproducibility of EOS measurements were analyzed using SterEOS software and the reliability of the navigation data for the position of the cup were assessed. RESULTS: Intra and interobserver reproducibility of the measurements of the orientation of the cup by EOS were good with correlation coefficients above 93% and 95% and confidence intervals of less than ±5°. Mean cup inclination and anteversion were 41.3° and 20.9° and 44.3° and 29.5° respectively in operatively and post-operatively. The differences between measurements of operative cup inclination using computer assisted navigation and the post-operative EOS measurements were significant (P<0.05) with a correlation coefficient of less than 40%. DISCUSSION: Our study confirms the lack of precision of the APP as a reference for positioning of the acetabular component, especially in relation to anteversion. Although for many years the APP was considered to be a global reference, in fact, it is subject to significant inter-individual variations and variations during changes in position. These factors, associated with the difficulty of determining the preoperative APP, explain the lack of reliability of this reference. Preoperative evaluation of the orientation of APP by EOS and its integration into the navigation system could help the operator position these components. LEVEL OF EVIDENCE: Level III Prospective diagnostic case controlled study.

Arthroscopic release of shoulder contracture secondary to obstetric brachial plexus palsy: retrospective study of 18 children with an average follow-up of 4.5 years.

INTRODUCTION: Children affected by obstetric brachial plexus palsy have an internal rotation contracture of the shoulder and a deformed glenohumeral joint. In 2003, Pearl proposed doing an arthroscopic release of the shoulder to restore external rotation and allow the glenohumeral joint to remodel. The goal of the current study was to evaluate the active and passive shoulder external rotation range of motion and glenohumeral joint remodelling in children treated with arthroscopic-directed release. MATERIALS AND METHODS: Between 2004 and 2010, 18 children with passive external rotation under 10° were treated with shoulder arthroscopy to release the anterior capsule and ligaments and perform a subscapularis tenotomy; no tendon transfer was performed. The average age was 4 years, 2 months. Nine children had an injury at C5C6, four had an injury at C5C6C7 and five had a complete injury. The average follow-up was 4.5 years. The clinical evaluation consisted of active and passive external rotation (ER) with elbow at the side, active internal rotation, and the modified Mallet score. One child who required an external rotation osteotomy of the proximal humerus was excluded from the clinical outcomes. An MRI was performed on both shoulders to assess glenoid retroversion, glenoid type, degree of posterior subluxation (measured by the percentage of humeral head anterior to the middle glenoid fossa) and humeral head hypoplasia. RESULTS: At the latest follow-up, passive ER was 58° on average and active ER was 42°. Eleven children had regained more than 30° of active ER. The average internal rotation had decreased after the release. The MRI assessment showed that the glenohumeral joint had remodelled in 66% of cases; the glenoid type had improved, the glenoid retroversion had diminished and the humeral head was recentred. Humeral head hypoplasia was found in 28% of cases. DISCUSSION AND CONCLUSION: Arthroscopic release of the shoulder results in more external rotation and allows for glenohumeral joint remodelling. Tendon transfer is not always necessary to restore active external rotation. LEVEL OF EVIDENCE: Level IV - Retrospective study.

Mosaic osteochondral transplantations in the knee joint, midterm results of the SFA multicenter study.

INTRODUCTION: There are several possible options to treat focal articular cartilage defects of the knee. The aim of this study was to evaluate the results and prognostic factors cartilage defects of the knee treated by autologous osteochondral mosaicplasty after more than five years of follow-up. PATIENTS AND METHODS: One hundred forty-two cases were included in this retrospective multicenter study. Etiologies included osteochondral fractures (n=79), and osteochondritis dissecans (n=61). Mean age of patients was 31. There was a majority of men (76%). Mean BMI was 25 (range: 21-41). Fifty-three percent of the knees had a history of surgery. Mean delay between the accident and surgery was 2.5 years. Mean area of the defect was 2.29 cm(2) (range: 0.3-12.25 cm(2)). The depth of the defect was 3 or 4 on the ICRS score in 97% of cases. An additional surgical procedure was associated with mosaicplasty in 14% of the cases. The follow-up evaluation was based on the Hughston score, the ICRS score, the IKDC subjective score, and the IKDC radiological score. Evaluation of control MRI was based on a modified MOCART score. RESULTS: The mean follow-up was 96 ± 28 months. There were complications in 19 patients. Patients were able to begin athletic activities again after a mean 35 weeks. Most patients (81.8%) were satisfied or very satisfied. There was a significant improvement (p<0.001) in the ICRS, IKDC function and Hughston scores at follow-up. The factors for a good prognosis were: male gender, medial femoral condyle defects, osteochondritis dissecans, deep, small defects, and the shortest possible delay to surgery. Obesity, smoking, work-related accidents, the level of sports practiced, the percentage of coverage of the defect, the number of plugs, and associated lesions did not have a statistically significant effect on the functional results in the final follow-up. DISCUSSION: Autologous osteochondral mosaicplasty seems to be a reliable technique in the short and intermediate term. It has the advantage of being less expensive than reconstructive techniques, is a one-step surgical procedure and results in immediate restoration of cartilage surface. Nevertheless, this is a difficult technique, which may result in complications and requires articular harvesting. This technique is limited by the size of the defect to be treated. The primary indication is deep, small defects on the medial femoral condyle.

Focal nodular hyperplasia of the liver following hematopoietic SCT.

Incidental hepatic regenerating nodules rarely occur after haematopoietic SCT (HSCT). Focal nodular hyperplasia (FNH) is one of these unusual benign tumors with characteristic imaging features. To determine the incidence and the outcome of FNH of the liver and improve the understanding of its pathogenesis, we prospectively surveyed a total of 138 patients who had undergone serial prospective pre- and post-transplantation evaluations of iron biomarkers, including ferritin and liver iron concentration assessed by magnetic resonance imaging (MRI). Seventeen patients with a median delay of 6.4 years (2.2-13.6) developed FNH of the liver. All were children at the time of transplantation. MR images were typical for FNH in 16 patients; only one patient needed a confirmatory biopsy. Sixteen had received a myeloablative conditioning; six received a BU-based preparation and 10 TBI. Three patients experienced sinusoidal obstruction syndrome. Neither complication nor malignant transformation has been reported to date. FNH of the liver seems to be a frequent delayed benign complication following HSCT, probably of iatrogenic vascular origin. Basic clinical and diagnostic imaging follow-up is warranted.

[Imaging of serious visceral forms of mucormycosis in five immunodepressed patients]. / Imagerie des formes viscérales graves de la mucormycose chez 5 patients immunodéprimés.

OBJECTIVES: Show the contribution of imaging to the diagnosis and follow-up of serious mucormycosis in immunodepressed patients. MATERIALS AND METHODS: Retrospective analysis of the 5-year radiological data in serious forms of mucormycosis occurring in patients with bone marrow allografts who are in refractory chronic graft-versus-host disease after bone marrow transplantation from 2002 to 2005. The positive diagnosis was bacteriologically and pathologically positive in all cases. RESULTS: This study involved three patients with isolated pulmonary involvement and two cases of disseminated mucormycosis. Areas of pulmonary condensations were found in all cases, one of whom had a low-attenuation zone and parenchymal nodules. The kidney, liver, and spleen lesions were clearly limited, hypoechogenic, hypodense, and homogenous with no peripheral contrast material uptake. There was thyroid involvement in the form of hypoechogenic nodules. Rapid growth of the lesions was observed on follow-up CT (n=3) and despite surgical treatment (n=2) and intensive medical management, all cases ended in death. CONCLUSION: Mucormycosis is an integral part of the differential diagnosis of infectious syndromes in immunodepressed patients during the period after bone marrow transplantation. Imaging can assist in the diagnosis but pathological confirmation remains indispensable.

Complete recovery from Cryptosporidium parvum infection with gastroenteritis and sclerosing cholangitis after successful bone marrow transplantation in two brothers with X-linked hyper-IgM syndrome.

We describe two brothers who suffered from hyper-IgM syndrome (HIGM1) with similar clinical features: recurrent infections, especially cryptosporidium gastroenteritis with cholangitis. Their activated T cells did not express CD40L. Nucleotide sequencing revealed a mutation in both boys with respect to intron 4 and exon 5 boundaries of the CD40L gene in Xq26. They underwent successful bone marrow transplantation (BMT) from HLA-geno-identical siblings. The Cryptosporidium infection and cholangitis resolved thereafter. At 6 months after BMT, expression of CD40L on activated T lymphocytes was normal. After 1 year, both boys are well, and immune reconstitution has improved. Based on these two successful experiences, BMT with a genoidentical sibling seems a reasonable therapeutic approach for HIGM1, if Cryptosporidium infection occurs.

Dynamic MR imaging of bladder haemangioma.

Haemangioma is a rare benign mesenchymal tumour of the bladder. We report a case of bladder haemangioma and describe the enhancement kinetics observed on MR images after gadolinium bolus administration, which is similar to that reported in liver haemangioma.

[Pheochromocytoma in children]. / Les phéochromocytomes chez l'enfant.

Pheochromocytoma is rare in children. A wide varieties of lesions are observed and diagnosis, often made late, is based on urinary catecholamine assay. Magnetic resonance imaging provides the best morphological information. The disease is usually benign and prognosis is good. Familial forms of pheochromocytoma and pheochromocytoma associated with ischemia-induced bone lesions must be emphasized.

Pyogenic spondylitis with Scheuermann's disease.

We present the case of a teenager suffering from dorsal and lumbar pain. Imaging modalities diagnosed a lumbar retro-marginal anterior herniation and thoracic spondylitis. Such association has been reported twice in the literature.

Mandibulo-acral dysplasia.

We report on a 7 year-old-girl with mandibulo-acral dysplasia. When she was 3 years of age it mimicked scleroderma because of skin atrophy and later on a Hutchinson-Gilford progeria syndrome (HGP). Acro-mandibular dysplasia was diagnosed because of facial hypoplasia and mandibular hypoplasia. The bilateral proximal mid-humeral notch seen in this case is unusual.

Pathological fracture in non-ossifying fibroma with histological features simulating aneurysmal bone cyst.

A 12-year-old-girl presented with a fracture of an osteolytic lesion of the distal radius. A 7-year-old girl presented with a fracture of an osteolytic lesion of the femoral shaft. In both cases it was a non-ossifying fibroma with fracture misdiagnosed at pathology as aneurysmal bone cyst. Fractures through non-ossifying fibromas may alter the histological pattern of the initial lesion in two ways: firstly, by the presence of blood pigments due to the fracture, and secondly, by formation of new bone. Radiological-pathological correlation is essential to avoid histological errors after pathological fracture in a non-ossifying fibroma.

[Bibliometric index]. / Les index bibliométriques.

The Institute of Scientific information has edited an index to evaluate the diffusion of scientific articles. It is based on the fact that the more an article is cited as a reference in other articles, the more it is considered to be important, and the higher the coefficient attributed to the journal in which it was originally published. The impact factor takes into account the average number of times which a journal is mentioned for recent articles published in a given year. This index is an attempt to quantify the notoriety of scientific journal for all scientific medical specialties.

Misleading leads: focal xanthogranulomatous pyelonephritis in childhood.

Xanthogranulomatous pyelonephritis is a morphologic variant of pyelonephritis. Focal disease is very rare and can be misdiagnosed.