Limbs and trunk soft tissue sarcoma systematic local and remote monitoring by MRI and thoraco-abdomino-pelvic scanner: A single-centre retrospective study.

INTRODUCTION: Soft tissue sarcomas (STS) are rare malignant tumors that require management by an expert center. Monitoring modalities are not consensual. The objective of our study is to report systematic radiological monitoring data obtained by local MRI and by thoracic-abdominal-pelvic computed tomography (TAP CT). MATERIAL AND METHODS: 113 consecutive patients managed at "Centre Georges François Leclerc, Dijon", between 2008 and 2016, for an initially localized STS were included. Patient follow-up consisted of a local MRI and a TAP CT. Follow-up exams schedule was initially every 4 months during 2 years, followed by every 6 months during 3 years and finally every year during 5 years. RESULTS: Median follow-up time was 37.2 months [min = 2.4 - max = 111.6]. After 5 years of surveillance, local recurrence (LR) rate was 8.8% and diagnosed by imaging in 60% of cases. No deep LR was clinically found. Median LR diagnosis time was 23.9 months [min = 2.0 - max = 52.4]. 50% of patients locally treated for their LR were alive without recurrence. Metastatic recurrence (MR) rate was 31%. 42.8% had extra-pulmonary involvement and 17.1% had exclusive extrathoracic metastases. The median time to diagnosis of MR was 17.4 months [min = 2.7- max = 77.2]. High-grade tumors relapsed more (20.4%) and earlier (all before the 5th year) than low grade. CONCLUSION: Local MRI seems particularly suitable for monitoring deep tumors. In addition, the systematic monitoring by TAP CT highlighted a limited number of cases of exclusive extrathoracic metastases. The schedule of local and remote monitoring should primarily be adjusted to tumor grade.

Management of simple renal cyst in children: French multicenter experience of 36 cases and review of the literature.

OBJECTIVE: The widespread use of renal ultrasonography has resulted in simple renal cysts (SRC) being discovered with increasing frequency in routine pediatric urological practice. Management of SRC, however, remains controversial. Most SRC are asymptomatic, are diagnosed incidentally, and have no clinical consequence. Our goal was to focus on management strategies for SRC in children with the support of our experience and a review of the literature. MATERIALS AND METHODS: A literature review was made of SRC in children since 1950, analyzing epidemiologic data, diagnosis, and management. In addition, a retrospective multicenter study was conducted from 1998 to 2009. Patients included presented with a unique SRC. Data recorded were patient characteristics (age, gender), symptoms, imaging features of the cyst (size, side, pole, and location), type of management, and long-term outcomes. To focus on management, two groups of patients were defined: primary surgical management and primary conservative management consisting of clinical and US follow-up. Our results were compared with the literature. RESULTS: Thirty-six cases were included. Fifteen patients were symptomatic. Comparing the two groups, long-term outcomes were similar. The only significant factors were preoperative (age of the patient, diameter and location of the cyst): the bigger the cyst, the more likely it was to be exorenal, and the greater the likelihood that surgery would be performed (p = 0.006). Symptoms were not a significant indicator for surgery. CONCLUSION: According to the literature and our experience, and considering the benign natural history of SRC and the similar outcomes whatever the treatment, primary conservative management is recommended for all cases. Surgery should be restricted to symptomatic large compressive cysts, increase in cyst size on follow-up, and uncertain diagnosis. Percutaneous cyst aspiration with sclerotherapy has not yet been used enough to ascertain its safety, and requires prospective evaluation.

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

Oral-facial-digital syndrome type VI (OFD VI) is characterized by the association of malformations of the face, oral cavity and extremities, distinguished from the 12 other OFD syndromes by cerebellar and metacarpal abnormalities. Cerebellar malformations in OFD VI have been described as a molar tooth sign (MTS), thus, including OFD VI among the "Joubert syndrome related disorders" (JSRD). OFD VI diagnostic criteria have recently been suggested: MTS and one or more of the following: 1) tongue hamartoma(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of hands or feet; 3) hypothalamic hamartoma. In order to further delineate this rare entity, we present the neurological and radiological data of 6 additional OFD VI patients. All patients presented oral malformations, facial dysmorphism and distal abnormalities including frequent polydactyly (66%), as well as neurological symptoms with moderate to severe mental retardation. Contrary to historically reported patients, mesoaxial polydactyly did not appear to be a predominant clinical feature in OFD VI. Sequencing analyzes of the 14 genes implicated in JSRD up to 2011 revealed only an OFD1 frameshift mutation in one female OFD VI patient, strengthening the link between these two oral-facial-digital syndromes and JSRD.

Antenatal factors associated with perinatal arterial ischemic stroke.

BACKGROUND AND PURPOSE: Perinatal arterial ischemic stroke (PAIS) is a common cause of hemiplegic cerebral palsy in children. The diagnosis of PAIS is based on cerebral imaging. The objective of our study was to determine prenatal risk factors associated with PAIS. METHODS: A retrospective case-control study was nested in the whole population of Burgundy, France, from January 2000 to December 2007. Case patients were confirmed by review of brain imaging and medical records. Three control subjects per case were randomly selected from the study population by sex, term, place, and year of birth. RESULTS: PAIS was confirmed in 32 patients and its incidence was one per 4400 live births. In comparison to control subjects, clinical conditions significantly associated to cases were gestational diabetes (16.1% versus 4.2%; P=0.04), fetal heart rate abnormalities (35.5% versus 10.9%; P=0.001), and meconium-stained liquor (40% versus 12%; P<0.001). At the limit of statistical significance were found maternal smoking before (39.3% versus 22.9%; P=0.08) and during pregnancy (32.1% versus 16.7%; P=0.07), cord abnormalities (29% versus 14.1%; P=0.06), and cesarean delivery (28.1% versus 14.6%; P=0.08). In the multivariate analysis, maternal smoking during pregnancy (OR, 3.1; 95% CI, 1.1-8.8; P=0.04) was the only risk factor significantly associated with PAIS. CONCLUSIONS: This study is the first to identify maternal smoking during pregnancy as an independent prenatal risk factor of PAIS. Additional prospective studies are needed to confirm this result and to investigate the role of maternal smoking in fetal and neonatal thrombogenesis.

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.

We report the case of a 26-month-old boy with mental retardation, facial dysmorphism, childhood feeding difficulties, short stature, bilateral cryptorchidism, micropenis, and heart defect. Endocrinal evaluation revealed complete growth hormone deficiency (GHD) and gonadotropic deficiency, and pituitary magnetic resonance imaging showed partial pituitary stalk interruption syndrome (PSIS). A de novo 493 kb microdeletion on chromosome 17q21.31 was identified using array comparative genomic hybridization (array-CGH) analysis. This is the first report of PSIS in the phenotypical spectrum of 17q21.31 microdeletion syndrome, although other midline abnormalities have previously been described. Our report suggests that GHD should be investigated in patients with 17q21.31 microdeletion syndrome and short stature, defined by a body height below - 2 standard deviation scores (SDS) for age and sex. This finding also opens new avenues of research on the etiopathogenesis of PSIS, for which the genetic mechanisms remain unknown.

Biphasic time course of brain water ADC observed during the first month of life in term neonates with severe perinatal asphyxia is indicative of poor outcome at 3 years.

In severe perinatal asphyxia, the prognostic value of apparent diffusion coefficient (ADC) measurements is still open to question. We hypothesized that temporal and anatomical changes of brain ADC values occurring early after the hypoxic-ischemic insult could predict the outcome at 36 months. To demonstrate this, mean ADC values were calculated for 16 brain structures in 59 term neonates who underwent an MR examination during the first month of life. Neonates were divided into two groups according to their 36-month outcome: unfavorable (death/severe disability) or favorable outcome. ADC values were plotted against age at scan. In neonates with favorable outcomes (n=32), ADC values were constant over the study period. In babies with unfavorable outcomes (n=27), ADCs exhibited two different patterns. In infratentorial structures, ADCs were constant and normal. In supratentorial areas, ADCs followed a biphasic temporal evolution: ADC values were at their lowest at day 2, showed a rapid increase until Days 5-7, and were thereafter similar to those of neonates with favorable outcomes. Using receiver operating characteristic analysis, during the first 3-5 days of life, all neonates with decreased ADC had an unfavorable outcome. These temporal and anatomical changes of ADC values imply that individual prognosis of asphyxiated neonates can only be predicted by measurement of ADC in supratentorial areas within the first 3-5 days of life.

Ectopic extralobar pulmonary sequestrations in children: interest of the laparoscopic approach.

BACKGROUND: Extralobar pulmonary sequestrations (EPS) are a rare benign congenital bronchopulmonary foregut malformation. Complete resection is necessary to confirm the diagnosis with histopathologic examination. The aim of this study was to describe the laparoscopic minimally invasive surgery (MIS) for a small series of ectopic EPS in small children and to show its feasibility and safety. METHODS: From January 2001 to December 2008, 12 cases of EPS were prenatally diagnosed and retrospectively reviewed. From this group, we isolated 6 children with ectopic EPS. Ages ranged from 15 days to 14 months. Three infants were symptomatic, and the others showed persistence of the lesion with parental anxiety. All prenatal diagnoses were confirmed by postnatal Doppler ultrasound and intravascular contrast computed tomography scan with 3-dimensional reconstructions. Postnatally, all were ectopic lesions: 3 were hiatal and intradiaphragmatic, 3 infradiaphragmatic and left paramedian. Laparoscopic MIS consisted of 4 small trocars and low-pressure pneumoperitoneum. We carried out a retroesophageal dissection in 4 cases, an elective control of systemic vessels, and a removal of the EPS with histologic study. RESULTS: We performed 5 procedures laparoscopically and 1 thoracoscopically. There were 2 abdominal conversions. Nevertheless, no intraoperative or immediate postoperative complications occurred. Hospital stay ranged from 1 to 5 days (mean, 2.7 days). The diagnosis of pure pulmonary sequestration with feeding vessels in 5 cases was confirmed by histopathology. Follow-up ranged from 13 to 84 months (mean, 43 months). Late complications were benign. CONCLUSIONS: Laparoscopic MIS for ectopic EPS in small children is a feasible and safe technique. The great magnification provided by the endoscopic procedure allows for the search of associated congenital anomalies, meticulous retroesophageal dissection, and control of the systemic vessels. Resection provides definitive diagnosis and treatment, and confers the benefits of a minimal access technique.

Abusive head trauma: judicial admissions highlight violent and repetitive shaking.

OBJECTIVE: Confessions are uncommon in abusive head trauma (AHT) cases, and there is debate over whether shaking alone can cause the injuries characteristic of AHT. The objective of this article is to correlate legal statements by perpetrators with medical documentation to offer insights into the mechanism of injury. METHODS: In this retrospective observational study we examined forensic evidence from 112 cases referred for AHT over a 7-year period. We compared 29 cases in which a perpetrator confessed to violence toward the child with 83 cases in which there was no confession. Inclusion criteria were subdural hematoma (SDH) on computed tomography and perpetrator admission of a causal relationship between the violence inflicted and the child's symptoms. Groups were compared by using Student's t test for age and Fisher's exact test for gender, death, fractures, retinal hemorrhages, ecchymoses, symptoms, and SDH patterns. All medical records from birth to diagnosis, imaging studies, and written investigation reports were reviewed. RESULTS: All confessions came from forensic investigations. There was no statistically significant difference between the 2 groups for any of the variables studied. Shaking was described as extremely violent (100%) and was repeated (55%) from 2 to 30 times (mean: 10) because it stopped the infant's crying (62.5%). Impact was uncommon (24%). No correlation was found between repeated shaking and SDH densities. CONCLUSIONS: This unique forensic case series confirms the violence of shaking. The high frequency of habitual AHT is a strong argument for reporting suspected cases to judicial authorities and helps to explain the difficulty in dating the injuries.

How to explore and report children with suspected non-accidental trauma.

Child abuse is a controversial problem of special concern. Recent reports have focused on the broad variability of reporting to child protection services. Radiologists play a key role in the early diagnosis and imaging of suspected inflicted injury. Imaging must be performed and then interpreted with rigour.The aims of this review are: To review the recent recommended guidelines for imaging in cases of suspicion of abuse. These include a highly detailed complete skeletal survey with centered views, whilst brain CT and/or MRI are mandatory in children younger than 2 years. The use of abdominal imaging is debatable if the child has no symptoms. All siblings younger than 2 years should be assessed in the same way while the diagnosis of abuse is investigated. Body MRI is an interesting modality that remains a "work-in-progress". To highlight that dating of both brain and skeletal injuries is imprecise. The main point is, however, to determine if the pattern is of "age-different" lesions. This not only provides a strong argument for the diagnosis of abuse, but also indicates repetitive violence with a high risk for further injury and death. To remember that the medical perspective is to protect the child. Thus, radiologists must communicate clearly the suspicion of abuse and the degree of certainty to clinicians to aid reporting or hospitalization.

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

We describe a 46-month-old child presenting with developmental delay, mild facial dysmorphism, micropenis, strabismus and striking multiple cysts of the corpus callosum who was found to have a de novo interstitial 3.1 Mb 15q24.1q24.2 microdeletion using a 244 K microarray-based comparative genomic hybridization (array-CGH). The cystic lesions were located in the anterior half of the corpus callosum and did not take up gadolinium contrast. There was no other brain abnormality, and the gyral pattern and myelination were normal. There was no history of infectious disease or vascular injury and a metabolic disease was ruled out. Such cystic lesions of the corpus callosum are exceptional in the pediatric literature. Although these brain abnormalities have not been described in other reports with 15q24 microdeletion, we believe that they might be related to the cytogenetic abnormality since the work-up for other causes was negative. We suggest that a chromosomal rearrangement should be ruled out when such corpus callosum lesions are identified.

Lipoleiomyoma of the uterus: imaging features.

BACKGROUND: Lipoleiomyoma is an extremely rare, benign, uterine tumor that requires no treatment when asymptomatic. It is important to differentiate it from malignant conditions requiring surgery. METHODS: A uterine lipoleiomyoma in a 68-year-old asymptomatic woman exhibited highly suggestive features by ultrasound, multislice spiral computed tomography (CT), and magnetic resonance imaging (MRI). RESULTS: The ultrasound findings were non-specific. CT scan showed an 8 x 7 cm well-defined fatty mass of the uterine body. On T(2)-weighted MR images, fat content within the tumor was confirmed because of evident chemical shift artifact.To our knowledge, the findings provided by these three modalities used in combination have not been reported previously in the gynecologic literature. CONCLUSION: The data yielded by CT and MRI on the fatty nature of the lesion are valuable in diagnosing this entity.The final pathological examination results confirmed the diagnosis of lipoleiomyoma.

A case of foramen magnum syndrome caused by atlanto-occipital assimilation with intracanal fibrosis.

We describe a case of foramen magnum syndrome secondary to atlanto-occipital assimilation with spinal-cord compression caused by retro-odontoid fibrous pannus. Association of atlanto-occipital assimilation with the occurrence of severe neurological symptoms resulting from upper spinal cord compression remains rare in the literature. The embryonic process leading to this malformation is discussed. The anatomy and pathogenesis of this syndrome are described.