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

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

[Atypical genital development and tumor risk]. / Atypie du développement génital et risque tumoral : synthèse de la réunion scientifique du 25 mai 2018 organisée par le « Centre de référence des maladies rares du développement génital du fœtus à l'adulte ¼.

Atypical genital development (AGD), also called disorders of sex development are a set of miscellaneous pathologies who have in common a morphological and/or functional abnormality of the internal and/or external genital organs. The Chicago classification identifies 3 major groups based on karyotype, hormone balance and genetic studies. Some AGD predispose to the occurrence of tumors, mainly malignant germ cell tumors. The tumor risk depends on many factors: the type of AGD, the position of the gonad, the age of the patient, the phenotype, the function of the gonad and the presence of germ cells in the gonad. AGD with the highest tumor risk are those with gonadal dysgenesis, implying an incomplete differentiation of the bipotential gonad (dysplasia). Monitoring of patients with AGD and indication of prophylactic gonadectomies should be individualized according to tumor risk.

Axial patellar engagement index and patellar tilt after medial patello-femoral ligament reconstruction in children and adolescents.

BACKGROUND: The medial patello-femoral ligament (MPFL) is a major patellar stabiliser whose reconstruction in adults involves graft fixation within a femoral tunnel. In skeletally immature patients, in contrast, the graft is fixed to the soft tissues to allow normal growth. The primary objective of this prospective study was to perform computed tomography (CT) and magnetic resonance imaging (MRI) assessments of medium-term correction of patellar tilt and of the axial patellar engagement index (AEI) after a paediatric variant of MPFL reconstruction in skeletally immature patients. HYPOTHESIS: MPFL reconstruction, performed alone or combined with other procedures in skeletally immature patients, decreases patellar tilt and improves the AEI. MATERIAL AND METHODS: Eighteen children and adolescents with a median age of 14.6 years (range, 8-17 years) who underwent MPFL reconstruction on 20 knees were included in this prospective observational study. A double-strand gracilis tendon graft passed through the medial collateral ligament was used. MPFL reconstruction was performed alone in 13 knees and was combined with lateral retinaculum release, tibial tuberosity translation, and/or trochleoplasty in 7 knees. Patellar tilt and AEI values determined on preoperative and post-operative imaging studies with the quadriceps relaxed and contracted were compared. A physical examination was also performed. RESULTS: From baseline to last follow-up after a mean of 43 months (range, 24-63 months), patellar tilt decreased from 20° preoperatively to 9° with the quadriceps relaxed and from 33° to 15.4° with the quadriceps contracted. The AEI increased from 0.78 at baseline to 0.93 at last follow-up. No dislocation or subluxation recurrences were recorded during follow-up. DISCUSSION: The patellar tilt and AEI improvements seen after paediatric MPFL reconstruction confirm the study hypothesis. This is the first prospective study of patellar position in the axial plane as assessed by CT and MRI after paediatric MPFL reconstruction. In everyday clinical practice, 3D assessments of patellar tilt and the AEI should be performed to evaluate correction of the abnormalities. LEVEL OF EVIDENCE: II, non-randomised prospective observational study.

Individual radiation exposure from computed tomography: a survey of paediatric practice in French university hospitals, 2010-2013.

OBJECTIVES: To describe computed tomography (CT) scanning parameters, volume CT dose index (CTDIvol) and dose-length product (DLP) in paediatric practice and compare them to current diagnostic reference levels (DRLs). METHODS: The survey was conducted in radiology departments of six major university hospitals in France in 2010-2013. Data collection was automatised to extract and standardise information on scanning parameters from DICOM-header files. CTDIvol and DLP were estimated based on Monte Carlo transport simulation and computational reference phantoms. RESULTS: CTDIvol and DLP were derived for 4,300 studies, four age groups and 18 protocols. CTDIvol was lower in younger patients for non-head scans, but did not vary with age for routine head scans. Ratios of 95th to 5th percentile CTDIvol values were 2-4 for most body parts, but 5-7 for abdominal examinations and 4-14 for mediastinum CT with contrast, depending on age. The 75th percentile CTDIvol values were below the national DRLs for chest (all ages) and head and abdominal scans (≥10 years). CONCLUSION: The results suggest the need for a better optimisation of scanning parameters for routine head scans and infrequent protocols with patient age, enhanced standardisation of practices across departments and revision of current DRLs for children. KEY POINTS: • CTDIvol varied little with age for routine head scans. • CTDIvol was lowest in youngest children for chest or abdominal scans. • Individual and inter-department variability warrant enhanced standardisation of practices. • Recent surveys support the need for revised diagnostic reference levels. • More attention should be given to specific protocols (sinuses, neck, spine, mediastinum).

Prognostic Value of Ultrasound Grading Systems in Prenatally Diagnosed Unilateral Urinary Tract Dilatation.

PURPOSE: We compared the prognostic value of anteroposterior intrasinus diameter of the renal pelvis, urinary tract dilatation and the Society for Fetal Urology grading system in children with prenatally diagnosed unilateral urinary tract dilatation. MATERIALS AND METHODS: All newborns with prenatally diagnosed unilateral urinary tract dilatation, normal bladder and anteroposterior intrasinus diameter 10 mm or greater on the first postnatal ultrasonography were prospectively enrolled from January 2011 to February 2015. Indications for surgery were recurrent febrile urinary tract infections and/or decrease of relative renal function more than 10% on serial isotope studies and/or increasing anteroposterior intrasinus diameter greater than 20% on serial ultrasounds. Sensitivity, specificity and ROC curves were calculated to evaluate the accuracy of anteroposterior intrasinus diameter, urinary tract dilatation and Society for Fetal Urology grading system in determining which children would need surgery within 24 months. RESULTS: A total of 57 males and 13 females were included. Of the patients 33 required surgery at a median age of 5 months (IQR 3.8 to 6.4). Urinary tract dilatation remained stable in 14 cases and decreased in 23 with a median followup of 42 months (IQR 25 to 67). Anteroposterior intrasinus diameter, urinary tract dilatation and Society for Fetal Urology scores were all correlated with the need for surgery. Anteroposterior intrasinus diameter with a threshold of 20 mm had the best prognostic value, with a sensitivity of 81.8% and a specificity of 91.7%. CONCLUSIONS: Our study confirms that the prognostic value was comparable between anteroposterior intrasinus diameter of the renal pelvis, urinary tract dilatation and Society for Fetal Urology grading system in newborns with prenatally diagnosed unilateral urinary tract dilatation. Anteroposterior intrasinus diameter and abnormal parenchymal thickness are the most important ultrasound criteria to identify children at risk for requiring surgery.

Improvement in the Outcome of Invasive Aspergillosis in a Pediatric Hematology Department: A 10-Year Review.

BACKGROUND: Invasive aspergillosis (IA) is associated with a high mortality rate despite the introduction of new antifungal agents. Several therapeutic strategies have been proposed to improve mortality rates in IA, including combination of drugs. METHODS: Here, we report the outcome of treatments based on a combination of antifungal agents on IA, including voriconazole and liposomal amphotericin B, in a pediatric population from 2001 to 2010. Our population included children with diverse hematological diseases or with bone marrow transplantation. RESULTS: Over a 10-year period, we diagnosed 19 cases (2,8%) of invasive pulmonary aspergillosis with an overall survival rate of 58%. CONCLUSION: Compared with the previous study conducted from 1986 to 2000, the overall survival rate (bone marrow transplantation excluded) greatly improved (12.5% to 58%), especially for patients treated for acute leukemia.

Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counselling.

OBJECTIVE: The purpose of this article is to improve prenatal imaging diagnosis and counselling for cases of 'isolated' Dandy-Walker malformation (DWM) in the light of recent literature, which has demonstrated a potential good clinical and intellectual outcome of fetuses presenting with DWM characterised by partial vermian agenesis (identification of two fissures and three lobes) and absence of associated anatomical anomalies. METHODS: This is a retrospective observational study of six consecutive prenatal cystic posterior fossa malformations, diagnosed as DWM, encountered in a national reference centre for posterior fossa malformations over a 2-year period. RESULTS: In all cases, DWM was diagnosed as isolated (without any associated central nervous system or extra-central nervous system malformations and normal standard karyotype). Despite good-quality imaging, including fetal magnetic resonance imaging (MRI), prenatal analysis of the vermis was impossible because of limited identification of fissuration and lobulation. In three cases, a cytogenetic anomaly was found, including 6p subtelomeric deletion (n = 2) and partial 4 qter deletion associated with partial 7p trisomy (n = 1). One fetus with 6p deletion was terminated. In four of the five postnatal cases, MRI confirmed the diagnosis of DWM but provided only limited information for vermian analysis. In one case, postnatal MRI showed a large Blake's pouch cyst with rotated but complete vermis associated with a marked mass effect on the distal part of the tentorium. Of the four babies born with postnatal diagnosis of DWM, all required ventriculoperitoneal shunting because of early postnatal hydrocephalus. CONCLUSION: When fetal MRI is necessary to exclude additional cerebral lesions in the diagnosis of DWM, we highlight the inaccuracy of magnetic resonance for anatomical analysis of the vermis. We also emphasise the potential high incidence of subtelomeric anomalies in isolated DWM, especially 6p deletion. In the postnatal period, paediatricians should look for postnatal hydrocephalus even if the ventricular size is normal or slightly dilated on prenatal imaging.

Bilateral renal artery stenosis and epidermal nevus syndrome in a child.

Epidermal nevus syndrome is a rare congenital sporadic neuro-ectodermic disorder, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems. We describe a 5-year-old boy with conjunctival lipodermoid, cervical and facial sebaceous nevi who presented at 3 years of age with hypertension due to bilateral renal artery stenosis together with multiple vascular anomalies (aorta, celiac trunk, superior mesenteric artery) as shown by magnetic resonance angiography. Systemic arterial hypertension was difficult to control despite combined anti-hypertensive drugs and the surgical repair of the aortic coarctation.

Diffuse chondroid malformation of the lung: cases series of a hitherto undescribed congenital lung disease.

Congenital chondroid lesions of the lung are rare pathological findings. They are a constant feature of lung malformations such as giant cystic pulmonary chondroid hamartoma, chondroid cystic malformation, and in the "cartilaginous variant" of congenital adenomatoid malformation. All of these present as a large single thoracic mass.We present the cases of three males and two females with hitherto undescribed diffuse chondroid lung disease, all but one of whom had neonatal respiratory distress syndrome with interstitial syndrome on chest radiograph. The pathological findings were similar in all patients, showing large areas of disorganized lung parenchyma containing diffusely distributed mature cartilage islands. With a mean follow-up of 6 years, all patients had a favorable outcome. This diffuse chondroid lung disease appears to be a new entity whose initial presentation mimicked interstitial lung disease without the usual clinical, radiological, and histological features. We speculate that it could be part of a clinical spectrum between malformative chondroid lung cyst and congenital pulmonary airway malformation.

Modified technique of meso-Rex shunt in case of insufficient length of the jugular vein graft.

UNLABELLED: Meso-Rex shunt (MRS) can relieve portal hypertension and restore a physiological portal flow in patients with portal vein thrombosis. We describe a technical variant where the autologous internal jugular vein (IJV) was too short to bridge the superior mesenteric vein (SMV) and the Rex recessus. PATIENT: A 15-year-old boy with portal cavernoma had several episodes of gastrointestinal bleeding despite repeated sclerotherapy. Preoperative assessment, including retrograde transjugular portography, showed persistent esophageal and gastric varices, severe hypertensive gastropathy, obstructed portal vein, patent SMV and splenomesenteric confluence, patent intrahepatic portal branches, and normal transhepatic pressure gradient. An MRS was planned. The left IJV was retrieved from its infracranial part to its confluence with subclavian vein. After performing the Rex recessus to IJV graft anastomosis, the IJV graft proved to be too short for classical end-to-side anastomosis onto the SMV. After clamp testing showing good tolerance of the small bowel, the proximal jejunal branches of the SMV were tied, the proximal SMV was mobilized and transsected 4 cm below the pancreas, and an end-to-end anastomosis between SMV and IJV was performed. Portal pressure decreased from 23 to 13 mm Hg, and intraoperative Ultra Sound Doppler (US Doppler) showed good flows in the shunt. Postoperative course was uneventful, and 1 year after surgery, the child is clinically well, off medication, with a patent shunt, and no portal hypertension. CONCLUSION: This modified MRS technique may be useful when the autologous IJV graft is too short, avoiding the need for prosthetic conduits and prolonged postoperative anticoagulation.

Invasive aspergillosis in a paediatric haematology department: a 15-year review.

Invasive aspergillosis (IA) is an increasingly common and often fatal fungal infection in children with haematological disorders. To describe the epidemiology, diagnosis, treatment and outcome of IA in children, retrospective review of the medical records of proven and probable IA between January 1986 and December 2000 was used. Twenty-four patients with IA were identified (10 proven and 14 probable) with a median age of 8.5 years. The incidence of IA was particularly high in acute myeloblastic leukaemia (5.35%) and leukaemia relapse (4%). Twenty-two patients presented with lung involvement. Broncho-alveolar lavage led to a diagnosis in 11 cases, but diagnosis was difficult and repeated invasive explorations were required. Antifungal therapy mainly consisted of amphotericin B. Eight patients underwent open-thorax surgery without any complication. Nine patients (37.5%) were cured of IA and three are still alive. The mortality was 87.5%. Three patients died of massive haemoptysis, including two before neutropenia recovery. Four patients presented with IA recurrence and three were cured again. Despite significant progress having been made in the treatment and diagnosis of IA, it is still a devastating complication in children with haematological disorders. New antifungal therapies and strategies are promising, but objective data are still lacking.

Successful salvage chemotherapy for isolated central nervous system (CNS) relapse in Burkitt lymphoma: monocentric experience of 3 pediatric patients.

Short-term intensive chemotherapy regimens have substantially improved the prognosis of pediatric patients with Burkitt lymphoma (BL), which now has an excellent overall outcome. However, central nervous system (CNS) involvement at diagnosis remains a poor prognostic factor, and progressive or relapsed disease in the CNS is associated with even worse outcomes. We report 3 boys aged 4, 7, and 12 years treated under the French Société Française d'Oncologie Pédiatrique LMB 89/96 protocols who presented, respectively, with CNS-/bone marrow+ stage-IV BL; CNS+ stage-IV BL; and stage-I BL. Each experienced an isolated CNS relapse, which was treated with CNS-directed salvage chemotherapy. All 3 are alive after 11 years of median follow-up, indicating that this chemotherapy regimen can be curative in pediatric BL with isolated CNS relapse.

Hemothorax: an unusual complication of costal exostosis.

We report a case of a spontaneous hemothorax in a 15-year-old girl because of costal exostosis. This possibly may have been provoked by a nontraumatic rupture of markedly dilated pleural vessels because of long-standing friction between the exostosis and the pleura. The authors conclude that exostosis of the rib is a rare cause of hemothorax in children and should be considered among possible etiologies in diagnosis.

Focal sonographic periventricular pattern associated with mild ventriculomegaly in foetal cytomegalic infection revealing cytomegalic encephalitis in the third trimester of pregnancy.

OBJECTIVES: To report focal sonographic periventricular pattern related to residual germinal matrix lesions in foetal cytomegalic infection in association with mild ventriculomegaly seen during the third trimester of pregnancy correlating with neuropathological findings of encephalitis. METHODS: We reviewed prenatal cerebral sonographic examination performed in three patients, during the third trimester of pregnancy, looking for either late 'isolated' ventriculomegaly (n = 2) or sonographic follow-up of cerebral structures following a known primary CMV infection in the early stage of pregnancy (n = 1). In cases of isolated ventriculomegaly, serological examination identified prenatal CMV infection. Magnetic resonance imaging (MRI) was performed in all cases. Imaging findings were compared with those following neuropathological examination. RESULTS: In all cases, ultrasound examination revealed an abnormal focal symmetrical bilateral periventricular pattern on the mid-lateral border of the lateral ventricles, including a mainly hyperechogenic lesion containing a few microcysts (case 1), a mixture of echogenic tissue and cysts (case 2) and mainly cystic areas (case 3). No alteration of cephalic biometry was noted. Neuropathological examination correlated these abnormal areas with lesions of the residual germinal matrix including inflammation and necrosis, but revealed also an extensive inflammatory process of the whole foetal brain. CONCLUSIONS: This focal sonographic periventricular pattern associated with mild ventriculomegaly without any abnormalities of the cerebral and cerebellar organogenesis nor cephalic biometry alteration in the third trimester of pregnancy should be considered as a marker of encephalitis following CMV infection of the foetal brain.

Prenatal diagnosis of capillary telangiectasia of the cerebellum--ultrasound and MRI features.

OBJECTIVE: To report three cases of capillary telangiectasia (CT) of the cerebellum revealed as focal cerebellar lesions. METHODS: Ultrasound and magnetic resonance imaging (MRI) were performed in all cases in the prenatal period. Prenatal imaging findings were compared with either post-mortem examination (case 1) or post-natal MRI (cases 2 & 3). RESULTS: A discrepancy between a hyperechoic lesion without any mass effect on sonogram and normal T1 and T2 spin-echo fetal magnetic resonance images was found in all cases. The diagnosis of CT was made on post-mortem examination in case 1. Prenatal ultrasound and magnetic resonance imaging findings were suggestive of the diagnosis in cases 2 and 3. In both cases, the pregnancy was managed conservatively and the diagnosis of CT was documented on post-natal MRI after gadolinium injection. CONCLUSION: The diagnosis of CT of the cerebellum was strongly suggested in these three cases in the prenatal period by the combination of ultrasound and fetal MRI findings. In the vast majority of cases, CT has a benign clinical course and complication with haemorrhage appears to be exceedingly rare. This fact should be taken into account in the prenatal counselling.