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The authors present a medico-legal autopsy case of hydranencephaly in a male preterm newborn, fully documented by postmortem unenhanced and enhanced imaging techniques (postmortem computed tomography and postmortem magnetic resonance imaging). Hydranencephaly is a congenital anomaly of the central nervous system, consisting in almost complete absence of the cerebral hemispheres and replacement of the cerebral parenchyma by cerebrospinal fluid, rarely encountered in forensic medical practice. A premature baby was born during the supposed 22nd and 24th week of pregnancy in the context of a denial of pregnancy without any follow-up. The newborn died a few hours after birth and medico-legal investigations were requested to determine the cause of death and exclude the intervention of a third person in the lethal process. The external examination revealed neither traumatic nor malformative lesions. Postmortem imaging investigations were typical of hydranencephaly, and conventional medico-legal autopsy, neuropathological examination, and histological examination confirmed a massive necrotic-haemorrhagic hydranencephaly. This case represents in itself an association of out-of-the-ordinary elements making it worthy of interest.

Complex female genitourinary system anomalies include a wide spectrum of uncommon pathologies, caused from the abnormal separation of the urorectal septum and the urogenital sinus in early embryonic life. The resulting fusion of the distal urinary, genital and intestinal tracts increases the risk of death in utero and alters the normal organ functionality and the quality of life in survivors. An accurate prenatal identification of these pathologies depends mainly on prior suspicion at ultrasound screening, but also requires a solid knowledge of embryology and familiarity with the different patterns of malformation. Prenatal MRI provides an excellent anatomic evaluation of the fetal anatomy that may improve the diagnosis in complex cases with inconclusive echographic findings. The additional information can help both families and medical teams to better evaluate the severity of the pathology and the postnatal prognosis and therefore to better orientate the management during pregnancy, at delivery and after birth. This review article describes the embryological basis and the clinical findings of the most relevant pathologies included in the spectrum. It also describes the imaging signs on prenatal MRI studies in a series of confirmed cases and proposes a diagnostic algorithm based on imaging findings for guiding prenatal diagnosis.

Background Acoustic radiation force impulse (ARFI) imaging is a noninvasive ultrasound elastography technique for evaluating tissue stiffness. The association of liver and spleen stiffness provides additional information in the assessment of portal hypertension. The technique and normal values of spleen stiffness by point shear wave elastography (p-SWE) in pediatrics have not been well documented. Objective Our aim is to describe the feasibility and normal ARFI elastography values in the spleen for healthy children and to compare measurements in two different probe positions (the axial and sagittal planes). Materials and methods Spleen p-SWE using ARFI values were measured with a 6C1 probe in 102 healthy children (age range: 8 weeks to 17 years) divided into four age groups. An average of nine (standard deviation: two) spleen stiffness measurements were taken during free breathing in each plane (axial and sagittal). The impact of age and measurement plane in the spleen was analyzed using multivariate models. Results There was no significant difference in spleen stiffness values taken at different ages, with an average of the medians of 2.43±0.31 m/s. There was no significant difference based on probe orientation: sagittal plane (median: 2.46±0.29 m/s) and axial plane (median: 2.43±0.32 m/s) with Student’s t-test P=0.18. The mean depth of measurement varied between 2.3 cm and 3.7 cm, according to age. Conclusion Normal spleen stiffness values using ARFI imaging in children do not vary with age and correspond to a median of 2.43 m/s. No significant difference was found when using different probe positions.

KAT5 encodes an essential lysine acetyltransferase, previously called TIP60, which is involved in regulating gene expression, DNA repair, chromatin remodeling, apoptosis, and cell proliferation; but it remains unclear whether variants in this gene cause a genetic disease. Here, we study three individuals with heterozygous de novo missense variants in KAT5 that affect normally invariant residues, with one at the chromodomain (p.Arg53His) and two at or near the acetyl-CoA binding site (p.Cys369Ser and p.Ser413Ala). All three individuals have cerebral malformations, seizures, global developmental delay or intellectual disability, and severe sleep disturbance. Progressive cerebellar atrophy was also noted. Histone acetylation assays with purified variant KAT5 demonstrated that the variants decrease or abolish the ability of the resulting NuA4/TIP60 multi-subunit complexes to acetylate the histone H4 tail in chromatin. Transcriptomic analysis in affected individual fibroblasts showed deregulation of multiple genes that control development. Moreover, there was also upregulated expression of PER1 (a key gene involved in circadian control) in agreement with sleep anomalies in all of the individuals. In conclusion, dominant missense KAT5 variants cause histone acetylation deficiency with transcriptional dysregulation of multiples genes, thereby leading to a neurodevelopmental syndrome with sleep disturbance, cerebellar atrophy, and facial dysmorphisms, and suggesting a recognizable syndrome.

Background: Children with biliary atresia rapidly develop liver fibrosis secondary to inflammatory destruction of the biliary tract. Noninvasive detection of liver fibrosis in neonatal/infantile cholestasis is an additional criterion for the diagnosis of biliary atresia, leading to prompt surgical exploration. Objective: To assess the value of US with acoustic radiation force impulse (ARFI) elastography to detect biliary atresia in the workup of neonatal/infantile cholestasis. Materials and methods: In this retrospective study, 20 children with cholestasis suspected of having biliary atresia were investigated by US and ARFI. We evaluated the association between US findings and the diagnosis of biliary atresia and with two scores of liver fibrosis obtained from liver biopsy. Results: In univariate analyses, gallbladder size, triangular cord sign, spleen size and ARFI values were found to be associated with biliary atresia, though only the triangular cord sign remained significant when elevated gamma glutamyltransferase (GGT) was included as a predictor. In contrast, spleen size and ARFI correlated with the degree of liver fibrosis on biopsy (r > 0.70, P

Background Contrast-enhanced magnetic resonance imaging (MRI) is recommended for the diagnosis of acute osteoarticular infections in children. Diffusion-weighted imaging (DWI) may be an alternative to the injection of gadolinium. Objective To evaluate unenhanced MRI with DWI in comparison to contrast-enhanced MRI for the diagnostic work-up of acute osteoarticular infections in children. Materials and methods This retrospective study included 36 children (age range: 7 months-12 years) with extra-spinal osteoarticular infections and MRI performed within 24 h of admission. MRI protocol included short tau inversion recovery (STIR), water-only T2 Dixon, T1, DWI, and gadolinium-enhanced T1 sequences. Two readers reviewed three sets of images: 1) unenhanced sequences, 2) unenhanced sequences with DWI and 3) unenhanced followed by contrast-enhanced sequences (reference standard). Sensitivity and specificity of sets 1 and 2 were compared to set 3 and assessed to identify osteoarticular infections: osteomyelitis (long bones, metaphyseal equivalents), septic arthritis and abscess (soft tissues, bone). Results All 14 cases of osteomyelitis in the metaphyses and diaphyses of long bones and all 27 cases of septic arthritis were identified by unenhanced sequences, but 4/16 abscesses were missed. For the diagnosis of abscess, DWI increased sensitivity to 100%. Among the 18 osteomyelitis in metaphyseal equivalents, 4 femoral head chondroepiphyses were identified by contrast-enhanced sequences only. Conclusion MRI for suspected pediatric acute osteoarticular infections is the best diagnostic modality to guide patient management. An unenhanced protocol with DWI may be an alternative to a contrast-based protocol, even in the presence of an abscess. However, gadolinium remains necessary to assess for chondroepiphyseal involvement of the femoral head.

Background Screening ultrasound (US) has increased the detection of congenital vascular anomalies in utero. Complementary magnetic resonance imaging (MRI) may improve the diagnosis, but its real utility is still not well established. Objectives We aimed to describe the imaging findings on prenatal US and MRI of the most frequent congenital vascular anomalies (lymphatic malformations and congenital hemangiomas) to assess the accuracy of prenatal US and MRI exams for diagnosis and to evaluate the relevance of the additional information obtained by complementary fetal MRI. Materials and methods All confirmed postnatal congenital vascular anomalies detected in the last 10 years at 3 university hospitals were retrospectively identified. The prenatal diagnosis was compared with the final diagnosis for both methods and the clinical relevance of additional MRI information was evaluated. A second MRI in advanced pregnancy was performed in fetuses with lesions in a sensitive anatomical location and the clinical relevance of the additional information was evaluated. Results Twenty-four cases were included in the study, 20 lymphatic malformations and 4 hemangiomas. MRI slightly improved the diagnosis of lymphatic malformation, 85% vs. 80% at US, especially for abdominal lesions. Both methods had a low identification rate (25%) for tumors. MRI performed late in five fetuses with lymphatic malformation allowed optimized management at birth. Conclusion MRI improves the diagnosis of congenital lymphatic malformations whereas hemangiomas remain difficult to identify in utero. The main role of MRI is to provide high-defined anatomical data to guide management at birth.

International audience; Introduction Variability of arterial blood pressure (ABP) has been associated with intraventricular hemorrhage in very preterm neonates (VPT) and may predict other brain lesions assessed at term-equivalent of age (TEA). Methods This was a prospective single-center study including VPT with early invasive continuous ABP monitoring and assessed at TEA using brain magnetic resonance imaging (TEA-MRI). The association between early mean ABP (MABP) and TEA-MRI findings was modeled by multivariate logistic regression analysis using covariates selected by the LASSO method. Results Among 99 VPT, the LASSO procedure selected consecutive periods of lowest MABP of 30 min on day 1 (d1) and 10 min on day 2 (d2) as the most relevant durations to predict TEA-MRI findings (OR [95% CI], 1.11 [1.02-1.23], p = 0.03 and 1.13 [1.01-1.27], p = 0.03, respectively). ROC curve analysis showed optimal thresholds at 30.25 mmHg on d1 and 33.25 mmHg on d2. This significant association persisted after adjustment with covariates including birthweight, gestational age, sex, and inotrope exposure. Final models selected by LASSO included the decile of the birthweight and lowest MABP for 30 min on d1 and 10 min on d2, for which the areas under the ROC curve were 74% and 75%, respectively. Conclusion Early continuous ABP monitoring may predict brain TEA-MRI findings in VPT. Impact Early arterial blood pressure monitoring may contribute to predicting brain damage upon MRI at term-equivalent of age for infants born very preterm. Careful blood pressure continuous monitoring in very preterm infants may identify infants at risk of long-term brain damage. Umbilical artery catheterization provides the best option for continuously monitoring arterial blood pressure in very preterm infants.

The accurate diagnosis of spondylolysis is widely made with CT scan considered as the gold standard. However, CT represents significant radiation exposure particularly substantial in a young and sometimes still growing population. Although the role of MRI in identifying edema/inflammation within the pars as an active lesion is proved, its ability to demonstrate and classify pars fracture line as same as CT is still controversial. This meta-analysis aimed to determine sensitivity and specificity of MRI in the direct visualisation of the pars defect. The PubMed and Embase databases were systematically searched for relevant studies from the earliest researchable time to December 2016 for cases in which the accuracy of MRI was reported for the diagnosis of spondylolysis in young patients. Two reviewers independently assessed the methodological quality for each selected study using the quality assessment of diagnostic accuracy studies 2 tool. A meta-analysis of the reported sensitivity and specificity of pooled data of selected studies was performed by a systematic review. For each selected study, sensitivity and specificity was recalculated, by considering only direct visualisation of a fracture line of the pars. The hierarchic summary receiver operating characteristic curve was generated to estimate the diagnostic performance of MR imaging. Heterogeneity was also tested. The systematic review identified 4 out of a total of 1300 studies to be included in the meta-analysis. On a per-pars basis (a total of 1122 pars), the pooled sensitivity and specificity of the MRI for the direct diagnosis of a pars defect were 81% (95% CI 54–94%) and 99% (95% CI 98–100%), respectively. A high overall heterogeneity (I2 = 79.5%) was computed with respective high and low heterogeneity on sensitivity (I2 = 87.9%) and specificity (I2 = 38.4%). This meta-analysis demonstrated a high diagnostic performance of MR imaging for the diagnosis of a pars defect in young adults. This technique may be considered as a first-line imaging technique as it helps to avoid exposure to ionising radiation.

Detection of subclinical hepatic encephalopathy in children is difficult. We aimed to assess the changes in imaging of the central nervous system in children with chronic liver disease using MR imaging, diffusion, and 1H -spectroscopy. Forty three children with chronic liver disease and/or porto-systemic shunting (111.4±56.9 months) and 24 controls (72.0±51.8 months) underwent brain MRI/spectroscopy on a 1.5T to examine T1, T2, ADC, Cho/Cr, ml/Cr, Glx/Cr ratio spectroscopy in the globus pallidus. Patients were divided into 3 groups according to the ratios of globus pallidus/putamen T1 signal : isointense (i), hyperintense (h), much more hyperintense (h+). The relationship with clinical and biological data was analyzed. T1 signal intensity and ml/Cr were significantly different between controls and group h+ (p=0.001). ADC did not differ significantly between groups. Age correlated strongly with the presence of a T1 signal ratio (p > 0.001). There was no correlation between imaging findings and biological parameters. In children with chronic liver disease and/or porto-systemic shunting, the presence of a hyperintense T1 signal in the globus pallidus correlated strongly with age. Biological and clinical parameters were not predictive of these changes. MRI may become a useful screening tool for hepatic encephalopathy in children. • Children with chronic liver disease should undergo brain MRI during their follow-up • T1 hyperintensity of globus pallidus is suggestive of liver-related CNS involvement • MRS mI/Cr is decreased in children with chronic liver disease • Biological parameters (ammonium) were not predictive of hepatic encephalopathy • Duration of chronic liver disease may be causative the hepatic encephalopathy

Bird breeder’s lung disease is the most common form of hypersensitivity pneumonitis and is a rare entity in young children. We report three cases of children under 7 years of age in whom this diagnosis was confirmed early in the course of the disease. Three children aged 4.4 to 6.5 years presented with dry cough lasting for more than 1 month, dyspnoea, variable loss of appetite, weight loss, fatigue, fever and mild signs of respiratory distress. Chest X-ray films and CT scans showed a bilateral micronodular infiltrate. All three patients had strongly suggestive bronchoalveolar lavage fluid findings with lymphocytosis; two had elevated cell counts and decreased CD4/CD8 ratios. Lung biopsy confirmed the diagnosis in all children. Contact with allergens was identified in all children: two had spent holidays close to a farm in the previous month and one was living next to a pigeon house. In all children, avian precipitins were positive. The symptoms rapidly resolved after allergen avoidance and treatment with oral prednisone. Corticoid treatment was given between 11 and 15 weeks. One child relapsed and required long-term low-dose corticotherapy for 1 year. Lung function tests were normal in all three patients, 3.9 to 5.7 years after diagnosis. Conclusion:Bird breeder’s lung disease is a rare entity but should be considered in young children presenting long lasting cough. While rapid allergen exclusion and start of treatment can avoid the evolution into irreversible lung fibrosis, clinical and biological evolution should be monitored carefully even after stopping corticoid treatment because of the possibility of relapse.

Background: Acoustic radiation force impulse imaging (ARFI) is a recent ultrasound technique to assess tissue stiffness. Objective: Our aim was to describe the feasibility and to define normal ARFI values in liver in children. Materials and methods: ARFI values were measured in 103 children (ages 2weeks to 17years) divided into four age groups, at a minimum depth of 3cm. In 20 children, measurements were done at 3-, 4- and 5-cm depth in the liver to assess the suitability of measurement location. The impact of age groups and of depth groups was examined using multilevel models. The precision of the measurements was determined using intraclass correlation coefficient (ICC). Results: There was no statistical difference between measurements taken at different ages, with a mean propagation velocity of 1.12m/s (range: 0.73 to 1.45m/s). There was no significant difference according to the depth of the regions of interest (up to 5cm). The ICC was 0.77 (95% CI 0.69-0.83). Conclusion: ARFI is feasible in children at any age with an acceptable reliability. The depth of measurements in the liver seems to have no influence on test results. We set the standard ARFI elastography values for healthy liver in children

Although rare, inflammatory myofibroblastic tumor is the most common primary lung mass in children. We report the case of an 11-year-old boy investigated for persistent cough and dyspnea with complete left lung atelectasis mimicking pneumonia. CT and MRI showed an endobronchial mass of the left main bronchus. The boy underwent endoscopic resection of the tumor and histology was in favor of an inflammatory myofibroblastic tumor of the lung. This diagnosis should be suspected in children with recurrent pneumonia. The prognosis is good after complete resection.

Background: Acoustic radiation force impulse (ARFI) imaging) is correlated with histopathological findings using METAVIR and semiquantitative scoring system (SSS) criteria for liver fibrosis. Objective: To compare acoustic radiation force impulse imaging with biopsy results in the evaluation of liver fibrosis in children. Materials and methods: Children with chronic liver disease and healthy children underwent acoustic radiation force impulse imaging liver measurements. ARFI gives a shear-wave velocity corresponding to tissue elasticity. In 39 children with liver disease, the values obtained were correlated with biopsy results. Receiver-operating characteristic (ROC) curves were used to determine the reliability of ARFI in estimating liver fibrosis in children. Results: ARFI mean value was 1.12 in the healthy group and 1.99 in children with chronic liver disease. ROC curves show that an ARFI cutoff of 1.34m/s is predictive of both METAVIR and SSS scores with a sensitivity of SSS > 2:0.85; METAVIR > F0:0.82. A cutoff of 2m/s yielded a sensitivity of 100% to detect SSS > 4 or METAVIR > F2. Conclusion: Acoustic radiation force impulse imaging is a reliable, noninvasive and rapid method to estimate moderate to severe liver fibrosis in children. It might prove useful to clinicians for fibrosis monitoring in children with liver disease and postpone the time of liver biopsy

The aim of this study was to illustrate the chest radiographs (CR) and CT imaging features and sequential findings of cavitary necrosis in complicated childhood pneumonia. Among 30 children admitted in the Pediatric Intensive Care Unit for persistent or progressive pneumonia, respiratory distress or sepsis despite adequate antibiotic therapy, a study group of 9 children (5 girls and 4 boys; mean age 4years) who had the radiographic features and CT criteria for cavitary necrosis complicated pneumonia was identified. The pathogens identified were Streptococcus pneumoniae (n=4), Aspergillus (n=2), Legionella (n=1), and Staphylococcus aureus (n=1). Sequential CR and CT scans were retrospectively reviewed. Follow-up CR and CT were evaluated for persistent abnormalities. Chest radiographs showed consolidations in 8 of the 9 patients. On CT examination, cavitary necrosis was localized to 1 lobe in 2 patients and 7 patients showed multilobar or bilateral areas of cavitary necrosis. In 3 patients of 9, the cavitary necrosis was initially shown on CT and visualization by CR was delayed by a time span varying from 5 to 9days. In all patients with cavities, a mean number of five cavities were seen on antero-posterior CR, contrasting with the multiple cavities seen on CT. Parapneumonic effusions were shown by CR in 3 patients and in 5 patients by CT. Bronchopleural fistulae were demonstrated by CT alone (n=3). No purulent pericarditis was demonstrated. The CT scan displayed persistent residual pneumatoceles of the left lower lobe in 2 patients. Computed tomography is able to define a more specific pattern of abnormalities than conventional CR in children with necrotizing pneumonia and allows an earlier diagnosis of this rapidly progressing condition. Lung necrosis and cavitation may also be associated with Aspergillus or Legionella pneumonia in the pediatric population

Increased computational power allows computed tomography (CT) software to process very advanced mathematical algorithms to generate better quality images at lower doses. One such algorithm, iterative metal artifact reduction (iMAR) has proven to decrease metal artifacts seen in CT images of adults with orthopedic implants. To evaluate artifact reduction capability of the algorithm in lower-dose pediatric CT compared to our routine third-generation advanced modeled iterative reconstruction (ADMIRE) algorithm. Thirteen children (11–17 years old) with metal implants underwent routine clinically indicated CT. Data sets were reconstructed with an iMAR algorithm. Hounsfield units and image noise were measured in bone, muscle and fat in the streak artifact (near the implant) and at the greatest distance from the artifact (far from the implant). A regression model compared the effects of the algorithm (standard ADMIRE vs. iMAR) near and far from the implant. Near the implant, Hounsfield units with iMAR were significantly different in our standard ADMIRE vs. iMAR for bone, muscle and fat (P

Purpose The aim of the present investigation was to evaluate, in patients with juvenile idiopathic arthritis, the effect of lavage with or without intra-articular corticosteroid (IACS) injection on clinical temporomandibular joint (TMJ) signs and symptoms of inflammation and changes in acute inflammation as assessed using magnetic resonance imaging (MRI). Materials and Methods Forty-one patients (mean age, 13.6 ± 4.0 yr) with juvenile idiopathic arthritis participating in a large prospective juvenile inflammatory rheumatism cohort study (JIRcohorte) were included in this study. Clinical history, examination, and MRI were carried out at baseline and 6 months after intervention, if any. Twenty-one patients underwent lavage and IACS injection in at least 1 TMJ, 8 patients underwent lavage of at least 1 TMJ, and 12 patients were followed with no intervention. Outcomes measured were maximal mouth opening, Helkimo dysfunction index scores, pain intensity, and acute inflammation as assessed using MRI. Results All groups showed a mean increase in mouth opening and mean decrease in pain intensity. The mean Helkimo clinical dysfunction score decreased for the 2 intervention groups but not for the control group. The mean Helkimo anamnestic dysfunction score decreased for the lavage with IACS group but not for the lavage-only group. The only statistically relevant difference was found for the Helkimo anamnestic dysfunction score comparing the lavage-only with the lavage with IACS group, with a more positive effect found in the lavage with IACS group. More than 50% of joints in each group showed no change at MRI examination. Joints with lavage and ICAS injection showed better improvement than joints that had lavage only or no intervention. Conclusion TMJ lavage with or without IACS injection cannot be claimed to systematically decrease pain, increase mouth opening, or resolve acute inflammation. Despite a tendency for improvement, response to this treatment is very patient dependent and can be determined by an array of other variables.

Neuronal ceroid lipofuscinoses represent a heterogeneous group of early onset neurodegenerative disorders that are characterized by progressive cognitive and motor function decline, visual loss, and epilepsy. The age of onset has been historically used for the phenotypic classification of this group of disorders, but their molecular genetic delineation has now enabled a better characterization, demonstrating significant genetic heterogeneity even among individuals with a similar phenotype. The rare Congenital Neuronal Ceroid Lipofuscinosis (CLN10) caused by mutations in the CTSD gene encoding for cathepsin D is associated with a dramatic presentation with onset before or around birth. We report on a female born to consanguineous parents who presented at birth with severe neonatal encephalopathy with massive cerebral and cerebellar shrinking on magnetic resonance imaging. Whole exome sequencing with targeted bioinformatic analysis of a panel of genes associated with prenatal/perinatal onset of neurodegenerative disease was performed and revealed the presence of a novel homozygous in-frame deletion in CTSD. Additional functional studies further confirmed the pathogenic character of this variant and established the diagnosis of CLN10 in the patient.

Zinner syndrome, the association of congenital seminal vesicle cyst and ipsilateral renal agenesis, is more often reported in adults or older adolescents. We present a case of a boy, followed up in our hospital since birth for right renal agenesis who at the age of 4 years presented a right paravesical cyst on ultrasound. The cyst was initially considered as an ureterocele. The diagnosis of Zinner syndrome was made later, at the age of 15 years by ultrasound and magnetic resonance imaging; at that moment the cyst had increased in size and had changed in aspect. This malformation should be considered in the differential diagnosis of a pelvic cyst in male patients with renal agenesis.

Tracheal agenesis is a rare and often lethal congenital defect that leads to airway emergency at birth. Computed tomography (CT) is the modality of choice to evaluate anomalous tracheal anatomy. The absence of spontaneous aeration of the tracheobronchial tree in children with tracheal agenesis makes CT interpretation difficult. We describe a procedure of airway management applied in two newborns with suspected tracheal agenesis. Correct airway management was performed immediately prior to CT examination by airway ventilation, with bag-valve mask alone in one case, and attached to an endotracheal tube placed into the esophagus in the other case. The images allowed for classification of tracheal agenesis. Computed tomography with appropriate airway ventilation is fundamental for the diagnosis of tracheal agenesis.

PurposeTo elucidate the novel molecular cause in two unrelated consanguineous families with autosomal recessive intellectual disability.MethodsA combination of homozygosity mapping and exome sequencing was used to locate the plausible genetic defect in family F162, while only exome sequencing was followed in the family PKMR65. The protein 3D structure was visualized with the University of California-San Francisco Chimera software.ResultsAll five patients from both families presented with severe intellectual disability, aggressive behavior, and speech and motor delay. Four of the five patients had microcephaly. We identified homozygous missense variants in LINGO1, p.(Arg290His) in family F162 and p.(Tyr288Cys) in family PKMR65. Both variants were predicted to be pathogenic, and segregated with the phenotype in the respective families. Molecular modeling of LINGO1 suggests that both variants interfere with the glycosylation of the protein.ConclusionLINGO1 is a transmembrane receptor, predominantly found in the central nervous system. Published loss-of-function studies in mouse and zebrafish have established a crucial role of LINGO1 in normal neuronal development and central nervous system myelination by negatively regulating oligodendrocyte differentiation and neuronal survival. Taken together, our results indicate that biallelic LINGO1 missense variants cause autosomal recessive intellectual disability in humans.GENETICS in MEDICINE advance online publication, 24 August 2017; doi:10.1038/gim.2017.113.

Background:Neonatal thalamic hemorrhagic stroke is related to cerebral sinus venous thrombosis and associated with neurological sequelae. Predicting factors are however lacking.Methods:Clinical and radiological findings at onset and on follow-up of 5 neonates with thalamic hemorrhage stroke are described.Results:All neonates presented with abrupt lethargy, ophistotonos, irritability and/or seizures. The thalamic hemorrhagic stroke was most often unilateral (4/5), involving the posterior/entire thalamus in 3 cases and the anterior thalamus in 2. Cerebral venous thrombosis was identified in a single patient. At follow-up, children with unilateral anterior thalamic hemorrhagic stroke demonstrated thalamic atrophy without neurological symptoms, whereas children whose thalamus lesion was extensive exhibit a porencephalic cavity and presented with late-onset epilepsy.Discussion:Although deep cerebral venous thrombosis is probably the cause of neonatal thalamic hemorrhagic stroke, its radiological evidence is challenging. Outcome seems dependent of the size and location of thalamic hemorrhagic stroke. Epilepsy is a frequent morbidity after thalamic hemorrhagic stroke.

Hypersensitivity pneumonia is clinically suspected and can be characterized on computed tomography by its pattern of diffuse lung disease, in children, as in adults. However, identifying the diagnosis is not always as simple. We report an organizing pneumonia pattern of hypersensitivity pneumonia that can be seen in adult patients, but has not been reported in the pediatric population.

The detection of fetal anomalies has improved in the last years as a result of the generalization of ultrasound pregnancy screening exams. The presence of a cystic imaging in the fetal pelvis is a relatively common finding, which can correspond to a real congenital cystic lesion or result from the anomalous liquid accumulation in a whole pelvic organ, mainly the urinary bladder, the uterus, or the vagina. In selected cases with poor prognosis and/or inconclusive echographic findings, magnetic resonance may bring additional information in terms of the characterization, anatomical location, and real extension of the pathology. This pictorial essay describes the normal pelvic fetal anatomy, as well as the most common pelvic cysts. It also describes the causes of an anomalous distension of the whole pelvic organs detected in utero, with emphasis on prenatal magnetic resonance imaging exams. Moreover, it proposes practical teaching points to reduce the differential diagnosis of these lesions based on the sex of the fetus, the division of the pelvis in anatomical spaces, and the imaging findings of the pathology. Finally, it discusses the real utility of complementary MRI.

Background Management of children with necrotizing enterocolitis (NEC) remains challenging. Various scores try to facilitate therapeutic decision-making. We aim to assess the agreement of three scores intending to predict the need for surgery and/or mortality in our patient cohort, and analyze agreement between the different scores. Methods This study is a retrospective analysis of patients with NEC Bell's stage II and III, managed in a single institution (1991–2011). Three existing scores (Metabolic Derangement Acuity score, NEC score, Detroit score) were calculated individually for each patient. The agreement between predicted outcome by scores and real outcome was evaluated with kappa statistic. Results Of 57 children, 46% presented with NEC stage II, 54% with stage III, 46% were treated with surgery, 54% conservatively, and survival was 58%. The kappa indexes for “need for surgery” were 0.41, 0.13, and 0.12 and kappa indexes for “mortality” were 0.27, 0.04, and 0.1 for the Metabolic Derangement Acuity score, the NEC score, and the Detroit score, respectively. Conclusion In our cohort, the agreement between the predicted outcomes by scores and the real need for surgery and/or mortality was poor. There was a lack of clinical usefulness of the tested scores. We must continue to better identify parameters to help guide the management of these patients.

Objectives To test the performance of a single 3D IR T2-Weighted sequence compared to a Whole-body MRI protocol including DWI, T1-Weighted and STIR 3D IR (3S) in a pediatric population. Methods Two radiologists (15 and 30 years of experience),reviewed WBMRIs: first the STIR alone and 2 weeks later the 3S protocol. The indications were variable. Only positive findings were explicitly reported. A third reader compared the results to gold standard (GS) exams specific for the pathology. Agreement between the two readers, sensitivity and positive predictive value of STIR were calculated. Results fifty-four WBMRIs were included (16 suspected child abuse, 8 chronic recurrent multifocal osteomyelitis (CRMO), 11 lymphomas, 4 osteosarcomas, 9 neuroblastomas, 6 histiocytosis). The mean age was 6 years 10 months, range: 1 month to 15 years. Agreement between readers was of 0.87 [0.82–0.91] for 3D STIR, and 0.89 [0.83–0.93] for the 3S protocol. For reader 1 sensitivity of 3D STIR was 81.6% and of 3S 81.0%. For reader 2 it was 74.1% for 3D STIR and 74.7% for 3S. For both readers and for both protocols, the positive predictive value (PPV) depended on the type of disease (for example 100% histocytosis and osteosarcomas, >90% for child abuse, >85% CRMO but Conclusions Sensitivities were not different between the 2 protocols, for each reader and were different between the 2 readers for each protocol.

Test-retest study.This study aimed to evaluate the validity and reliability of rasterstereography in patients with adolescent idiopathic scoliosis (AIS) with a major curve Cobb angle (CA) between 10° and 40° for frontal, sagittal, and transverse parameters.Previous studies evaluating the validity and reliability of rasterstereography concluded that this technique had good accuracy compared with radiographs and a high intra- and interday reliability in healthy volunteers. To the best of our knowledge, the validity and reliability have not been assessed in AIS patients.Thirty-five adolescents with AIS (male = 13) aged 13.1 ± 2.0 years were included. To evaluate the validity of the scoliosis angle (SA) provided by rasterstereography, a comparison (t test, Pearson correlation) was performed with the CA obtained using 2D EOS® radiography (XR). Three rasterstereographic repeated measurements were independently performed by two operators on the same day (interrater reliability) and again by the first operator 1 week later (intrarater reliability). The variables of interest were the SA, lumbar lordosis, and thoracic kyphosis angle, trunk length, pelvic obliquity, and maximum, root mean square and amplitude of vertebral rotations. The data analyses used intraclass correlation coefficients (ICCs).The CA and SA were strongly correlated (R = 0.70) and were nonsignificantly different (P = 0.60). The intrarater reliability (same day: ICC [1, 1], n = 35; 1 week later: ICC [1, 3], n = 28) and interrater reliability (ICC [3, 3], n = 16) were globally excellent (ICC 0.75) except for the assessment of pelvic obliquity.This study showed that the rasterstereographic system allows for the evaluation of AIS patients with a good validity compared with XR with an overall excellent intra- and interrater reliability. Based on these results, this automatic, fast, and noninvasive system can be used for monitoring the evolution of AIS in growing patients instead of repetitive radiographs, thereby reducing radiation exposure and decreasing costs.4.

Diabetic striatopathy is a well-known complication of diabetes in adults. To our knowledge, only 2 cases have been reported in children. We here report the case of a teenager in whom diabetic striatopathy was revealed by the subacute appearance of hemichorea–hemiballism in the context of weight loss, polyuria, and polydipsia. Glycemia control allowed rapid clinical recovery despite established striatal lesions documented on MRI. We also discuss current hypotheses about pathophysiological processes underlying this entity.

Infections of the brain in the postnatal period differ from those in older children as a result of a combination of distinct epidemiologic factors in general, and immaturity of neonatal brain and immunologic host response in particular. It has been recognized that clinical and neurologic signs are often nonspecific, sometimes scarce, and seldom correlate with the extent of neuroimaging findings, thus warranting an early MR imaging examination in the course of the disease, enabling rapid therapy institution and better clinical outcome. This article reviews most of postnatal pathogen agents involved in neonatal brain infections, related physiopathology, and neuroimaging findings.

Partial rhombencephalosynapsis (PRECS) has been recently reported in association with Chiari II (CII). However, its existence as a true malformation is challenged due to the anatomical changes potentially induced by CII. The aim of this report was to investigate the contribution of midbrain/hindbrain tractography in this setting. A 13-year-old boy with a known CII malformation and operated myelomeningocele was referred for brain imaging after a first complex partial seizure. In addition to the classical features of CII, MRI showed partially fused cerebellar hemispheres and multiple supratentorial abnormalities. Diffusion tensor imaging (DTI) color map and tractography showed absent transverse fibers on the midsection of the cerebellum, scarce fibers of the middle cerebellar peduncle (MCP), absence of the middle pontine crossing tract, and fibers running vertically in the medial part of the cerebellum. Vertical mediocerebellar fibers are a feature of classical RECS and the paucity or absence of MCP fibers is mainly described in CII. In our patient, DTI and FT therefore demonstrated structural characteristics of both RECS and CII confirming their potential coexistence and suggesting possible shared embryological pathway.

Primary leptomeningeal melanocytosis is rarely encountered in the pediatric population. Despite being considered a nonmalignant condition, it uniformly carries a poor prognosis given the ineluctable progression of meningeal infiltration. The case of a previously healthy 10-year-old girl who was first thought to suffer from recurrent hemiplegic migraine is reported. She later developed insidious subacute hydrocephalus. Meningeal biopsy performed during shunt insertion demonstrated an unexpectedly large number of melanocytes consistent with meningeal melanocytosis. Subsequently, the child developed recurrent shunt dysfunction and showed evidence of malignant transformation. The steps to reaching the proper diagnosis are discussed, and the current literature on this rare clinical entity as well as on related central nervous system melanocytic lesions that can occur in the pediatric population is reviewed.

BACKGROUND: Late-onset noninfectious pulmonary complications (LONIPCs) are life-threatening complications of bone marrow transplantation (BMT). Several pathological patterns are described in the literature with different prognoses, and with different relationships to graft-versus-host disease (GVHD). The role of high-resolution CT (HRCT) is not yet well established. OBJECTIVE: To illustrate different patterns of LONIPCs on HRCT in allogeneic versus autologous BMT in order to investigate the correlation with chronic GVHD (cGVHD). MATERIALS AND METHODS: A total of 67 HRCT scans were performed in 24 patients with noninfectious pulmonary disease at least 3 months after BMT (16 allogeneic, 8 autologous). Abnormality patterns and extension on HRCT images were correlated with the clinical outcome and with the severity of cGVHD. RESULTS: Of 24 patients, 9 showed LONIPCs (1 autologous, 8 allogeneic). There was a significant association between abnormalities on HRCT and severe cGVHD (P = 0.038), with no specific pattern. Prognosis seemed to be related to the severity of cGVHD and not to the extent of abnormalities on HRCT. CONCLUSION: The significant association between abnormalities on HRCT and severe GVHD suggests that LONIPCs can be a pulmonary manifestation of the disease. HRCT is a useful tool when combined with clinical data.

Resume L’echographie est l’examen de premiere intention pour l’exploration du cerveau fœtal. Les causes d’anomalies cerebrales sont tres variables : origine vasculaire, infectieuse, genetique, accidentelle. Le but de l’IRM fœtale est de confirmer une anomalie suspectee a l’echographie, d’en preciser l’etendue et de rechercher d’autres lesions cerebrales associees mal visibles ou difficiles a percevoir a l’echographie. Les signes d’appel echographiques sont divers ; les plus frequents sont les dilatations ventriculaires, les anomalies du corps calleux, les destructions parenchymateuses, l’anomalie kystique de la fosse posterieure… L’IRM fœtale est aussi indiquee pour des raisons maternelles, comme l’obesite ou l’oligoamnios, qui rendent l’examen echographique peu performant. L’interpretation correcte d’une IRM fœtale demande une connaissance approfondie de l’anatomie du fœtus au cours du developpement gestationnel. La decision de pratiquer une IRM fœtale est prise par une equipe pluridisciplinaire. La decouverte d’une anomalie cerebrale chez un fœtus doit faire rechercher d’autres anomalies a l’echographie : cardiaques, renales, digestives ainsi qu’un caryotype, le tout pouvant des lors orienter vers une anomalie syndromique ou genetique.

OBJECTIVE: The purpose of our study was to illustrate three cases of bilateral hydrosalpinx in postpubertal girls operated on for Hirschsprung's disease and to discuss the possible cause: iatrogenic or congenital. We identified bilateral hydrosalpinx in three postpubertal sexually inactive girls with Hirschsprung's disease treated, respectively by Duhamel, Soave pull-through, and Martin procedures. No history of surgical complications or pelvic inflammation had been reported. CONCLUSION: Hirschsprung's disease is rare in girls and bilateral hydrosalpinx is also extremely uncommon in sexually inactive adolescents. We think there may be a possible common cause: either a postsurgical complication or a congenital defect of the autonomous innervation in the context of a neurocristopathy. Because of the rarity of both conditions, the association is unlikely to be coincidental. The cause of this association is unclear and further studies are required to find its prevalence and to estimate the possible impact on fertility.

Severe fetal ventriculomegaly is generally associated with poor prognosis in terms of survival and neurodevelopment outcome. As such, many parents opt to terminate the pregnancy independently of a known etiology. We report here the case of a female fetus with severe progressive ventriculomegaly due to the unexpected presence of bilateral nodular periventricular heterotopias visualized on MRI of a fetal brain. Reaching a structural diagnosis was perceived as a relief for the parents and the pregnancy was continued. Neurodevelopment assessment at 3 years of age is normal with no epilepsy.

Children with biliary atresia are prone to developing progressive hepatic fibrosis and biliary cirrhosis following the Kasai operation. The only treatment is liver transplantation. To assess liver fibrosis by acoustic radiation force impulse elastography (ARFI) in children who had Kasai operation, with the goal of identifying an ARFI value cut-off for children requiring liver transplantation. Of the 32 post-Kasai children included, 19 were transplanted or listed for transplantation (group A), while 13 were not on the list during their follow-up (group B). We recorded biopsies, blood samples and ARFI values over time, including at Kasai operation and at transplantation. We estimated an association between groups and continuous variables using generalized estimating equations, and we compared categorical variables using the Fisher exact test. Portal hypertension signs were similar in both groups, whereas ARFI values were higher in group A (mean±standard deviation=3.3±1.2 m/s) than in group B (2.0±0.7 m/s; P=.0003). Eighteen of 19 (94.7%) children in group A and 6/13 (46.2%) children in group B presented with two consecutive ARFI values ≥2 m/s (sensitivity=7%, specificity=53.8%; P=0.003). We found that children who were transplanted had two consecutive ARFI values ≥2 m/s during follow-up. ARFI for evaluation of post-Kasai liver fibrosis may assist the long-term assessment of biliary atresia and may even guide treatment decisions.

The authors report a case of a preterm infant at 29 weeks of gestation who gradually developed a Chiari malformation Type I (CM-I) with hydrocephalus due to a premature unilateral fusion of the posterior intraoccipital synchondrosis. Brain ultrasonography results in the 1st week of life were normal. Follow-up ultrasonography showed progressive development of triventricular hydrocephalus. Brain MRI demonstrated the presence of a CM-I and a deformation of the occipital bone. A complementary CT scan was obtained, showing a closure of the right posterior intraoccipital synchondrosis, resulting in a deformation of the posterior cranial fossa. This case shows the close relationship between a malformation of the skull base and the secondary development of a brain malformation. The authors discuss the anatomy of the occipital bone and suggest a probable theory for the premature closure of this synchondrosis and the consequent development of a CM-I. The originality of this case lies in the observation of the natural history of a brain malformation in a preterm infant.

Objective: To create an endocervical canal in a patient with a complete cervical agenesis. Design: Case report. Setting: University hospital. Patient(s): A 12-year-old girl presented with lower abdominal pain. On examination, complete vaginal agenesis was noted, with a 2-cm vaginal dimple. A pelvic magnetic resonance imaging scan disclosed an hematometra and absence of the cervix and vagina. Intervention(s): Initial surgical therapy consisted of a vaginoplasty with a sigmoid bowel segment and opening of the uterus by puncture and stenting. The cervical permeation failed, with immediate complete stenosis. A new attempt was made through a low sagittal hysterotomy by removing a central muscular cylinder and lining the channel with a free tubularized bladder mucosa graft. A stent was left in place. Main Outcome Measure(s): Hysteroscopy, hysterography, and clinical follow-up evaluation. Result(s): The cervical stent was removed after 5 months. A hysterography and hysteroscopy confirmed the permeability of the cervix, which was lined by a well-vascularized longitudinally folded mucosa. Regular menses had been noted for more than 3 years as of this report. Conclusion(s): Cervicoplasty with mucosal lining permits the creation of a patent cervical canal, even in the reputedly unfavorable forms of congenital cervical agenesis.

Background: Loss of triphasicity of hepatic venous flow on Doppler US has been correlated with hepatic parenchymal disease such as cirrhosis and graft rejection in adults. Objective: To document physiological variations of hepatic vein (HV) flow patterns in normal children of different age groups, the influence of age, sex, body position, site of measurements within a given vein, exercise and food intake. Also, to document the reproducibility of the Doppler US findings in the three major HVs, in order to establish the limits of normal flow against which to assess liver pathology giving rise to abnormal flow pattern. Materials and methods: Thirty-two children, divided into four age groups: less than 1 year, 1–5 years, 5–12 years and 12–16 years, with four boys and four girls in each group, underwent repeated US examinations of their HVs. The HV flow pattern was recorded as triphasic = 4, diphasic = 3, monophasic = 2 or uninterpretable = 1 at three sites in each vein: peripheral, middle and proximal in the supine position in the fasting state. One recording was then obtained in the midportion of each vein in the sitting position, another one after exercise, then after a meal and lastly one by a second radiologist. Statistical analysis of variance was done of each variable alone, in combination two by two and three by three. Results: HV flow pattern was different from one vein to another in the majority of the children, the right HV having the least triphasic flow. Age was highly significant, the HV flow being less triphasic in young children. Sex and position were significant for the right HV only, which was the most difficult to examine. Exercise and food intake did not change the triphasicity of flow. Conclusions: HV flow pattern differs with age and can differ from one HV to another within an apparently normal liver. Interpretation is generally reproducible from one radiologist to another. A difference of sex, seen mostly for the right HV, may be due to unfavourable Doppler angle and difficulty of interpretation. The site of measurements within a given vein, body position, exercise and food intake do not influence the triphasicity of HV flow.

We report clinical, neuroradiological and neuropathological findings of monozygotic twin sisters born at 30 weeks' gestation, with pontocerebellar hypoplasia (PCH) similar but not identical to type 2 PCH. They presented with hypertonia, jitteriness, spontaneous and provoked myoclonic jerks (hyperekplexia), apnoeic episodes, and progressive microcephaly. They died at 7 weeks of age from respiratory failure.

This study intends to document the presence or absence of triphasic waveforms in hepatic veins in healthy children. Does absence of triphasic hepatic vein flow indicate hepatic abnormality?One hundred children without a known hepatic or intrathoracic abnormality underwent Doppler sonography of their hepatic veins. Fifty girls and 50 boys were divided into five age groups.Forty-two children had triphasic flow in all three hepatic veins. Veins approaching an angle of 90 degrees with the inferior vena cava could not be assessed or had the least flow modulations despite angle correction. Neonates had the highest percentage of monophasic flow (seven of 21) in all three hepatic veins and none had triphasic flow in all three veins.Not all healthy children have a triphasic flow pattern in all hepatic veins. Before suspecting hepatic abnormality with abnormal parenchymal compliance (cirrhosis, graft rejection) by virtue of lack of triphasic hepatic vein flow, a normal variant of the flow should be considered. Only the change of a previously documented triphasic flow to monophasic flow in a given vein should be assessed as a sign of possible abnormality.

13-year-old boy affected by a high-energy trauma A(sled against tree) was admitted to the emergency department with respiratory distress and bradycardia. Roentgenography of the chest showed extended subcutaneous emphysema, bilateral pneumothoraces, and pulmonary consolidations (Fig 1). Computed tomography revealed massive subcutaneous emphysema, severe pneumomediastinum, bilateral pneumothoraces, peritoneal and retroperitoneal air, rib fractures, and bilateral pulmonary contusions. On axial, coronal, sagittal lung window, and minimum intensity projection (MinIP) reconstructions of the chest, the posterior wall of the intermediate bronchus was not identified, and contiguity existed between the air in the airway and that in the mediastinum—all signs of bronchial rupture (Fig 2). Bronchoscopy followed by thoracotomy confirmed the intermediate bronchus rupture, which involved the middle lobe and Nelson bronchi as well. A reimplantation