Venous leiomyosarcoma arising from the radiocephalic vein.

Vascular leiomyosarcoma is a very rare soft tissue neoplasma. We are reporting a vascular leiomyosarcoma case arising from an unusual site: the radiocephalic vein. Despite a poor prognosis, after surgery and radiotherapy, the patient was alive without signs of recurrence two years later.

Diffusion-weighted magnetic resonance imaging of the fetal brain in intrauterine growth restriction.

OBJECTIVE: Diffusion-weighted magnetic resonance imaging (DWI) is a sensitive method for assessing brain maturation and detecting brain lesions, providing apparent diffusion coefficient (ADC) values as a measure of water diffusion. Abnormal ADC values are seen in ischemic brain lesions, such as those associated with acute or chronic hypoxia. The aim of this study was to assess whether ADC values in the fetal brain were different in fetuses with severe intrauterine growth restriction (IUGR) compared with normal controls. METHODS: Brain magnetic resonance imaging (MRI) with single-shot axial DWI (b = 0 and b = 700 s/mm2 ) was performed in 30 fetuses with severe IUGR (estimated fetal weight < 3rd centile with absent or reversed umbilical artery Doppler flow) and in 24 normal controls of similar gestational age. Brain morphology and biometry were analyzed. ADC values were measured in frontal and occipital white matter, centrum semiovale, thalami, cerebellar hemisphere and pons. Frontal-occipital and frontal-cerebellar ADC ratios were calculated, and values were compared between IUGR fetuses and controls. RESULTS: There was no difference in gestational age at MRI between IUGR and control fetuses (IUGR, 30.2 ± 1.6 weeks vs controls, 30.7 ± 1.4 weeks). Fetal brain morphology and signals were normal in all fetuses. Brain dimensions (supratentorial ± infratentorial) were decreased (Z-score, < -2) in 20 (66.7%) IUGR fetuses. Compared with controls, IUGR fetuses had significantly lower ADC values in frontal white matter (1.97 ± 0.23 vs 2.17 ± 0.22 × 10-3 mm2 /s; P < 0.0001), thalami (1.04 ± 0.15 vs 1.13 ± 0.10 ×10-3 mm2 /s; P = 0.0002), centrum semiovale (1.86 ± 0.22 vs 1.97 ± 0.23 ×10-3 mm2 /s; P = 0.01) and pons (0.85 ± 0.19 vs 0.94 ± 0.12 ×10-3 mm2 /s; P = 0.043). IUGR fetuses had a lower frontal-occipital ADC ratio than did normal fetuses (1.00 ± 0.11 vs 1.08 ± 0.05; P = 0.003). CONCLUSIONS: ADC values in IUGR fetuses were significantly lower than in normal controls in the frontal white matter, thalami, centrum semiovale and pons, suggesting abnormal maturation in these regions. However, the prognostic value of these ADC changes is still unknown. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

[The urinary bladder is an uncommon site of metastasis from breast cancer]. / La vessie : un site rare de métastase de cancer du sein.

Bladder metastasis of breast origin are rare. Lobular carcinoma is the most frequent histological subtype of the primary tumor. This secondary location can be the only one or can be associated with other locations. The prognosis is poor. The period between primary breast tumor and the development of bladder metastasis is variable. Herein is reported the case of a 68-year-old woman presenting with irritative disorders. Urological examination was performed and made the diagnosis. When having a history of breast cancer, the occurrence of urinary symptoms require radiographics and a cystoscopy.

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.

BACKGROUND AND PURPOSE: Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 distinct subtypes and involving several genes. SOX10 mutations have been found both in types 2 and 4 Waardenburg syndrome and neurologic variants. The purpose of this study was to evaluate both the full spectrum and relative frequencies of inner ear malformations in these patients. MATERIALS AND METHODS: Fifteen patients with Waardenburg syndrome and different SOX10 mutations were studied retrospectively. Imaging was performed between February 2000 and March 2010 for cochlear implant work-up, diagnosis of hearing loss, and/or evaluation of neurologic impairment. Eleven patients had both CT and MR imaging examinations, 3 had MR imaging only, and 1 had CT only. RESULTS: Temporal bone abnormalities were bilateral. The most frequent pattern associated agenesis or hypoplasia of ≥1 semicircular canal, an enlarged vestibule, and a cochlea with a reduced size and occasionally an abnormal shape, but with normal partition in the 13/15 cases that could be analyzed. Three patients lacked a cochlear nerve, bilaterally in 2 patients. In addition, associated abnormalities were found when adequate MR imaging sequences were available: agenesis of the olfactory bulbs (7/8), hypoplastic or absent lacrimal glands (11/14), hypoplastic parotid glands (12/14), and white matter signal anomalies (7/13). CONCLUSIONS: In the appropriate clinical context, bilateral agenesis or hypoplasia of the semicircular canals or both, associated with an enlarged vestibule and a cochlear deformity, strongly suggests a diagnosis of Waardenburg syndrome linked to a SOX10 mutation.

[Antibiotic therapy of bone and joint infections in children: recent changes]. / Antibiothérapie des infections ostéo-articulaires de l'enfant : ce qui a changé

Management of bone and joint infections in children associates early appropriate antibiotic therapy against Staphylococcus aureus and Kingella kingae and, if necessary, surgical drainage of abscess or septic arthritis. In 2007, the Paediatric Infectious Diseases Group of the French Society of Paediatrics (GPIP) proposed guidelines for antibiotherapy in acute and non-complicated cases, with an intravenous therapy during 4 to 7 days followed by oral therapy during 3 weeks.

Lessons learnt from two pediatric motor vehicle accidents resulting in anal canal, rectal and gluteal muscle wrenching.

Ano-rectal trauma is common in motor vehicle accidents involving children. Inadequate initial assessment of the extent of lesions may be life threatening. We describe two cases where children were struck by buses that subsequently rolled over them in the prone position, resulting in ano-rectal and gluteal muscle wrenching. The first patient was inadequately assessed. Initial management did not include a diverting stoma, leading to life-threatening necrosis and septic shock. The second benefitted from our previous experience and recovery was uneventful. The distinctive mechanism of trauma in true gluteal muscle and anal canal wrenching is discussed. Gluteal muscle, anal canal and rectal wrenching as a result of rolling force from a motor vehicle is a very serious condition requiring immediate intestinal diversion with a stoma. Immediate repair may be attempted at the same time as stoma creation if the patient is stable. Broad-spectrum antibiotics and close wound monitoring are necessary to avoid muscle necrosis and serious complications.

[Primitive renal synovial sarcoma: a cystic tumor in young patients]. / Synovialosarcome primitif rénal: une tumeur kystique chez des patients jeunes.

INTRODUCTION: The study of the clinical, histological and immunohistochemical aspects of three kidney tumors corresponding to synovial sarcomas operated on in our center over three years. PATIENTS AND METHOD: Three patients aged between 27 and 33 had an enlarged nephrectomy for kidney tumors corresponding to a histological examination of a synovial sarcoma. The tumors were symptomatic in 100% of cases with back pain and spontaneous rupture. Size varied from 5 to 13cm. The radiological aspect was a cystic tumor (BosniakIV) in two cases and in the other a spontaneous perirenal hematoma. Two were in the right kidney and one in the left kidney. The parts were analyzed after fixation. Immunohistochemical coloration and an analysis in molecular biology by RT-PCR of fusion transcripts were carried out. RESULTS: One patient died because of local development and metastasis 24 months after an enlarged nephrectomy associated with radio chemotherapy (Maidprotocol). Two patients were in total remission after an average of 25 months following the same treatment. The histology found a mesenchymal fusocellular monotone proliferation corresponding to a sarcoma. In all three cases, it was a biphasic form with plaques of fusiform cells and epithelial cells. The immunohistochemical study shows a positivity of the contingent epithelial and fusiform. The muscular markers were negative. A study in molecular biology of the fusion transcript allowed for the finding of a translocation (X;18) in all three cases. CONCLUSION: Primitive synovial sarcoma of the kidney occured in young patients. The translocation (X;18) is pathognomonic of the diagnosis. The prognosis is bleak despite complete excision, radiotherapy and chemotherapy.

Cerebral biometry in fetal magnetic resonance imaging: new reference data.

OBJECTIVES: To provide normal magnetic resonance imaging (MRI) reference biometric data of the fetal brain, to evaluate reproducibility and gender effect, to compare the two cerebral hemispheres and to compare MRI with ultrasonographic biometry, in a large cohort. METHODS: Normal cerebral fetal MRI examinations were collected prospectively and several parameters were measured: the supratentorial space (bone and cerebral fronto-occipital and biparietal (BPD) diameters), the length of the corpus callosum (LCC), the surface area, height and anteroposterior diameter of the vermis, the transverse cerebellar diameter (TCD) and the anteroposterior diameter of the pons. We evaluated the interobserver reproducibility of measurements and the possible gender effect on measurements of bone BPD, TCD and LCC. We compared right and left hemispheres, right and left atria and ultrasound and MRI measurements. RESULTS: The study included 589 fetuses, ranging from 26 to 40 weeks. Normal values (from 3(rd) to 97(th) percentile) are provided for each parameter. Interobserver agreement was excellent, with an intraclass correlation coefficient (ICC) > 0.75 for many parameters. The gender effect was evaluated in 372 cases and did not reveal any clinically meaningful difference. Comparison between the right and left cerebral hemispheres and between the right and left atria did not reveal any meaningful differences. Ultrasound and MRI measurements of BPD and TCD were compared in 94 cases and 48 cases, respectively, and the agreement was excellent (ICC = 0.85). CONCLUSIONS: We present new reproducible reference charts for cerebral MRI biometry at 26-40 weeks' gestation, from a large cohort of fetuses.

[Mitochondrial neurogastrointestinal encephalomyopathy]. / Encéphalopathie myoneurogastro-intestinale.

This paper describes MRI aspects of a leukodystrophy due to the Mitochondrial Neurogastrointestinal Encephalomyopathy syndrome in an adolescent girl investigated for nocturnal recurrent emesis leading to major cachexia.

Contribution of diffusion-weighted imaging in the evaluation of diffuse white matter ischemic lesions in fetuses: correlations with fetopathologic findings.

BACKGROUND AND PURPOSE: The sensitivity of fetal MR imaging is poor with regard to the evaluation of diffuse ischemic white matter (WM) abnormalities. Our purpose was to evaluate the contribution of diffusion-weighted imaging (DWI) in the analysis of microstructural changes in WM and to correlate neuroimaging with neurofetopathologic findings. MATERIALS AND METHODS: We included fetuses with MR imaging, DWI, and a fetopathologic examination. In a region of interest defined by MR imaging, where T1 and T2 intensities were abnormal, the apparent diffusion coefficient (ADC) was measured and immunohistochemical analysis was performed. In fetuses with no WM abnormality in signal intensity, region of interest was defined at random. Histologic reading was performed with a complete blinding of the MR imaging results and ADC values. Three degrees of histologic appearance were defined with regard to vasogenic edema, astrogliosis, microgliosis, neuronal and oligodendrocytic abnormalities, and proliferation or congestion of vessels and were compared with a chi(2) test in groups A (normal ADC) and B (increased ADC) fetuses. RESULTS: We included 12 fetuses in group A and 9 in group B, ranging from 29 to 38 weeks of gestation. All group B fetuses and 1 group A fetus demonstrated WM abnormalities in signal intensity. WM edema and astrogliosis were more common in group B than in group A (7/9 vs 2/12 and 8/9 vs 4/12, respectively). No significant difference was observed between both groups with regard to the other parameters. CONCLUSION: This study showed a strong correlation between increased ADCs and 1) WM abnormalities in signal intensity on MR imaging, and 2) vasogenic edema with astrogliosis of the cerebral parenchyma.

[Imaging of child osteoarticular infections]. / Imagerie des infections ostéoarticulaires de l'enfant.

The diagnostic strategy in imaging osteoarticular infections is currently quite well codified. X-rays, always available in the emergency situation, are systematically taken. They can be usefully completed with sonography in accessible superficial locations, when looking for a puncturable abscess. MRI is not systematic but is widely used: In place of bone scintigraphy, when osteomyelitis is suspected with a normal x-ray and a clinical warning sign; In the acute period of certain deep topographies when looking for an abscess (pelvis, spinal cord); When growth cartilage is involved to evaluate the risk of epiphysiodesis; When there is resistance to treatment; In the chronic forms of osteomyelitis, for diagnosis and evaluating the extent of infection. The CT scanner has few indications: it is performed when looking for bone sequestrum in chronic forms and when MRI access is impossible in difficult anatomical sectors (spinal cord, pelvis, scapula). Scintigraphy is currently only performed when x-rays are normal and there are no clinical warning signs.

Phylogenetic groups and virulence factors of Escherichia coli strains causing pyelonephritis in children with and without urinary tract abnormalities.

Escherichia coli isolates causing acute pyelonephritis in 93 children (25% with urinary tract abnormalities) were tested for nine virulence factors (papC, papGII, papGIII, sfa/foc, hlyC, cnf1, iucC, fyuA and iroN) and their phylogenetic groups were determined. Isolates lacking papGII were more frequent among patients with urinary tract abnormalities (58% vs. 10%, p 0.0003), as were non-virulent phylogenetic group A isolates (25% vs. 5%, p 0.043). Pyelonephritis caused by less virulent E. coli strains was more frequent among patients with significant urinary tract abnormalities. Further studies are required to determine whether screening for E. coli virulence factors may help to identify children warranting anatomical investigations.

Third-trimester fetal MRI in isolated 10- to 12-mm ventriculomegaly: is it worth it?

OBJECTIVE: The justification for magnetic resonance imaging (MRI) in isolated mild ventriculomegaly remains controversial. This study was undertaken to evaluate the contribution of third-trimester MRI in isolated 10- to 12-mm fetal ventriculomegaly. DESIGN: Observational prospective cohort study. SETTING: Universitary prenatal reference centre. POPULATION: From February 2000 to May 2005, we prospectively collected data concerning fetuses referred to us for cerebral MRI following detection of ventriculomegaly by ultrasound scan (n= 310). METHODS: Among these, we identified and analysed those cases in which ventriculomegaly was isolated and did not exceed 12 mm in ultrasound examinations prior to MRI scan (n= 185). MAIN OUTCOME MEASURE: Cases in which MRI provided additional information that was likely to have an impact on prenatal management were detailed. RESULTS: During the study period, 310 MRI were performed because of fetal ventriculomegaly. Hundred and eighty-five were suspected to be isolated 10- to 12-mm ventriculomegalies in ultrasound scan and formed our database. MRI confirmed the 10- to 12-mm isolated fetal ventriculomegaly in 106 cases (57.3%) and found other abnormalities in 5 (4.7%) of these 106 cases. MRI found ventricular measurement to be less than 10 mm in 43 cases (23.3%) and more than 12 mm in 36 cases (19.4%). Among these 36 fetuses with ventricle size more than 12 mm, 6 (16.7%) had other abnormalities, whereas MRI did not find other abnormalities in the 43 cases with ventricle size below 10 mm. CONCLUSION: Before advantages of MRI to ultrasound examination can be demonstrated, it seems reasonable that MRI should remain an investigational tool, restricted to selected clinical situations in which the results are expected to modify case management. Where ultrasound scan suspects isolated ventriculomegaly of 10 to 12 mm, our data suggest that when the finding is confirmed with MRI this could be expected in around 5% of cases. Therefore, the policy of routine MRI in such cases should depend on prenatal centres' priorities.

Automated analysis of MR image of hip: geometrical evaluation of the Legg-Calve-Perthes disease.

This study proposes semi-automatic determination of geometrical features in hip magnetic resonance (MR) images in order to evaluate the Legg-Calvé-Perthes disease (LCPD). Nine anatomical points on a hip image are selected by a clinician; then eight geometrical indexes of the hip joint are calculated: acetabulum head index (AHI), Wiberg angle (VCE), inner acetabular coverage angle (VCI), acetabular inclination angle (HTE), femoral shaft-neck angle (CC'D), circularity (C), convex deficiency factor (CDF) and pillar height deficiency factor (HDF) for the head region. The geometrical parameters are evaluated on 46 hip images of young patients with unilateral LCPD: 23 images concern the affected hip and 23 the unaffected hip. The extraction of the region of interest is done with a seeded region growing method. All the data were centered and reduced, and were subjected to principal component analysis. Supervised classification is applied with discriminant analysis and k-nearest neighbours classification. The AHI appears to be the best discriminant attribute (maximum between-class variance ratio). Cross-validation tests indicate that we can at most reduce the parameters to five (AHI, CC'D, DHF, DCF and VCE). The classification error rate for the linear discriminant method is 12.5%.

Prenatal diagnosis of a cystic type IV sacrococcygeal teratoma mimicking a cloacal anomaly: contribution of MR.

OBJECTIVE: To report a case of pelvic midline cystic mass in a female fetus without visibility of the rectum and which is not a cloacal anomaly. METHODS: Ultrasound (US) and magnetic resonance imaging (MRI) were performed respectively at 27 and 27.5 weeks' gestation and the findings of these examinations were compared with post-mortem examination after termination of pregnancy (TOP). RESULTS: US showed a pelvic midline cystic mass in a female fetus with mild enlargement of the left ureter and renal pelvis. MRI did not show the T1 hypersignal of meconium in the rectum. The analysis of MR findings were suggestive of the diagnosis of a sacrococcygeal teratoma. Pregnancy was terminated because of the possibility of severe sphincterial disorders and the fetopathological examination confirmed this diagnosis. CONCLUSION: This observation illustrates the diagnostic problems generated by the detection of a pelvic midline cystic mass in a female fetus. The absence of visibility of the T1 hypersignal of the meconium in the rectum is traditionally supposed to be highly suggestive of a cloaca, but may also be explained by the emptiness of the rectum, compressed by the mass.

[Gartner's cyst communicating with the bladder and vagina with associated complete vaginal diaphragm]. / Kyste de Gartner communiquant avec la vessie et le vagin, associé à un diaphragme vaginal complet.

Gartner's duct cyst is a relatively common benign cystic lesion and represents embryologic remnants of Wolffian ducts. These cysts are usually small and asymptomatic and have been reported to occur in as many as 1% of all women. We report a case of a 30 month old baby presenting with recurrent urinary tract infection and Gartner's duct cyst communicating with the vagina and bladder with associated complete vaginal diaphragm. The diagnosis of Gartner's duct cyst was suggested by pelvic ultrasonography and MR imaging. Vaginal diaphragm and communication between the Gartner's cyst, the bladder and vagina were established during cystoscopy and vaginoscopy.

[Low bone mineral density in children with Crohn's disease]. / Déminéralisation osseuse au cours de la maladie de Chron de l'enfant.

UNLABELLED: Recent studies have reported low bone mineral density in children with Crohn's disease. The aims of this retrospective study were to quantify its frequency and to search for risk factors. POPULATION AND METHODS: Bone mineral density of 29 children with Crohn's disease was measured by dual-energy X-ray absorptiometry. All the children were taking calcium and vitamin D, during all the follow-up. RESULTS: Osteoporosis (Z-score < or = -2.5 S.D.) was found in 38% of the children, and osteopenia in 38% (Z-score between -1 and -2.5 S.D.). Low bone mineral density was correlated with age, suggesting it begins with puberty. Daily corticosteroid exposure was significantly higher for patients with osteoporosis. Disease severity measured with Harvey-Bradshaw index and exposure to immunosuppressive drugs were almost statistically significant. Sex, height, duration and site of disease, nutritional assistance exposure were not associated with low bone mineral density. CONCLUSION: This study confirms the high frequency of low bone mineral density in children with Crohn's disease, mainly during puberty. Corticosteroid exposure is a risk factor, and the disease severity, a probable one (non significant). New treatment strategy has to be defined to prevent and to treat this complication.