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Objectives: In Luxembourg, the frequency of CT and MRI examinations per inhabitant is among the highest in Europe. A national audit was conducted to evaluate the appropriateness of CT and MRI examinations according to the national referral guidelines for medical imaging., Methods: Three hundred and eighty-eight CT and 330 MRI requests corresponding to already performed examinations were provided by all radiology departments in Luxembourg. Four external radiologists evaluated the clinical elements for justification present in each request. They consensually assessed the appropriateness of each requested examination with regard to the national referral guidelines and their clinical experience., Results: The appropriateness rate (AR) was higher for MRI requests than for CT requests (79% vs. 61%; p < 0.001). AR was higher for requests referred by medical specialists rather than by general practitioners, both for CT requests (70% vs. 37%; p < 0.001) and MRI requests (83% vs. 64%; p = 0.002). For CT, AR was higher when the requests concerned paediatric rather than adult patients (82% vs. 58%; p < 0.001), when the radiology departments were equipped with both CT and MRI units rather than with only CT units (65% vs. 47%, p = 0.004) and when the requests concerned head-neck (79%), chest (77%) and chest-abdominal-pelvic (81%) areas rather than spinal (28%), extremity (51%) and abdominal-pelvic (63%) areas (p < 0.001)., Conclusions: The appropriateness of CT and MRI in Luxembourg is not satisfactory and collective efforts to improve should be continued. The focus should be on general practitioners and on spinal CT examinations.

Bone pain associated with bone marrow infiltration is often present at diagnosis of pediatric acute lymphoblastic leukemia (ALL). It sometimes signs the presence of pathological fracture, lytic lesions, arthritis, or osteitis associated to ALL that can delay the diagnosis. During treatment, bone complications (pain, osteopenia, fracture, avascular necrosis, ...) are also reported. In order to describe bone involvement (BI) of pediatric LLA, we reviewed the records of 104 patients followed in our unit. The overall incidence of BI was 67 %. At diagnosis, 50 % of patients had BI and in 19 %, the diagnosis of ALL was delayed. During and after treatment, respectively 28 % and 37 % of patients presented bone complications (pain, fractures, avascular necrosis, osteopenia). Patients with BI had a lower leukocytosis inferior to 10x109/l (p = 0.005) and an ALL of average risk (p = 0.019). 38 % of patients with BI during treatment were over 10 years old and 55 % were girls (vs. 21 % and 38 % in the entire cohort, respectively). Osteoporosis was more severe at diagnosis than during treatment, suggesting the presence of constitutional promoting factors. In our cohort, the majority of BI was resolved at the end of treatment with no long-term sequelae.

Rectal prolapse is rare in children and usually benign. However, there are various diseases that can be associated with it, such as cystic fibrosis or other causes of increased abdominal pressure. Here, we review the various underlying conditions that pediatricians or pediatric gastroenterologists should consider in the case of rectal prolapse. We report on three cases of children with a rectal prolapse and intra-abdominal tumors. Current recommendations and practice do not include a systematic check via abdominal imaging in cases of rectal prolapse. However, in some situations, imaging is indicated to detect a possible expansive process. Thus, in the presence of recurrent prolapse or of associated urinary or neurological signs, imaging is justified so as to allow for an early diagnosis and treatment of these neoplasms. Given its lack of radiation exposure and good sensitivity in children, ultrasound imaging is the first choice., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

A 5-month-old boy developed splenomegaly, anemia, thrombocytopenia with elevated white cells, monocytosis and immature granulocytes in the peripheral blood. Bone marrow showed dysplasia without blastosis. Increased colony-forming unit-granulocyte-macrophage was found in the peripheral blood, mimicking granulocyte-macrophage colony-stimulating factor hypersensitivity. These findings fulfilled the diagnosis criteria for juvenile myelomonocytic leukemia (JMML), but no mutations in the CBL, NRAS, KRAS, or PTPN11 genes were detected. In addition to these findings severe hypogammaglobulinemia and elevated alkaline phosphatase were present. Bone X-ray showed dense and radiopaque bones with a bone-in-bone appearance characteristic of infantile malignant osteopetrosis (IMO). Genetic mutation in T-cell, immune regulator 1 (TCIRG1) was identified, confirming the diagnosis of IMO. Careful differential diagnosis including osteopetrosis, is therefore recommended in patients with clinical features and hematologic findings consistent with JMML., (© 2014 Japan Pediatric Society.)

A babygirl, aged six weeks, was hospitalized for rectal prolapse and isolated constipation. The investigation revealed a neuroblastoma (NB) inducing a medullar compression responsible for the sphincter disorders. NB is second among pediatric solid tumors, but is the most frequent cancer among infants. Its diagnosis is difficult because of its rarity and the variety of its symptoms. A new staging, based on imaging, has recently been proposed by the International Neuroblastoma Risk Group. With the exception of its localized, easily resectable forms, NB is best treated by chemotherapy.

We report the case of seven year old girl, suffering from Steinert's disease and developing a nodular focal hyperplasia. The latter was fortuitously discovered on the occasion of an echography performed during the follow up of a post-catheterisation umbiblical vein hematoma. The lesion increased and became symptomatic. Nodular focal hyperplasia is a rare pathology in a child of that age and can be treated differently than in adults.

Sternal clefts have been reported sporadically, but there are no reports describing complete investigations of the malformation. We describe a child with isolated inferior sternal cleft diagnosed at 33 weeks of gestation and thoroughly investigated by prenatal US, MRI and CT and preoperative US. Our report highlights the importance of accurate and in-depth investigation by multimodality imaging that allows detection of accompanying serious anomalies and, hence, forms the basis for informed parental counselling and for postnatal interdisciplinary care.

Gestational alloimmune liver disease has emerged as the major cause of antenatal liver injury and failure. It usually manifests as neonatal liver failure with hepatic and extrahepatic iron overload, a clinical presentation called neonatal hemochromatosis. We report on a newborn in whom fetal hepatomegaly was detected during pregnancy and who presented at birth with liver cirrhosis and mild liver dysfunction. Liver biopsy showed the absence of iron overload but strong immunostaining of hepatocytes for the C5b-9 complex, the terminal complement cascade neoantigen occurring specifically during complement activation by the immunoglobulin G-mediated classic pathway, which established the alloimmune nature of the hepatocyte injury. The infant survived with no specific therapy, and follow-up until 36 months showed progressive normalization of all liver parameters. This case report expands the recognized clinical spectrum of congenital alloimmune liver disease to include neonatal liver disease and cirrhosis, even in the absence of siderosis. Such a diagnosis is of utmost importance regarding the necessity for immunotherapy in further pregnancies to avoid recurrence of alloimmune injury.

Diastematomyelia is a relatively rare congenital abnormality presenting as a sagittal separation of the spinal cord. Although cases of diastematomyelia have been previously reported, fully documented approaches by both prenatal and postnatal diagnostic workup are rare in the literature. We present a fully studied case of diastematomyelia type I investigated by prenatal US and MRI and postnatal US, MRI and radiography.

Temple-Baraitser syndrome, previously described in two unrelated patients, is the association of severe mental retardation and abnormal thumbs and great toes. We report two additional unrelated patients with Temple-Baraitser syndrome, review clinical and radiological features of previously reported cases and discuss mode of inheritance. Patients share a consistent pattern of anomalies: hypo or aplasia of the thumb and great toe nails and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. All patients were born to unrelated parents and occurred as a single occurrence in multiple sibships, suggesting sporadic inheritance from a de novo mutation mechanism. Comparative genomic hybridization in Patients 1, 2 and 3 did not reveal any copy number variations. We confirm that Temple-Baraitser syndrome represents a distinct syndrome, probably unrecognized, possibly caused by a de novo mutation in a not yet identified gene.

Germ cell tumours represent about 3 to 8% of pediatric brain tumours. Occurrence of diabetes insipidus is common in the case of suprasellar germ cell tumors. The diagnosis may be advanced by MRI owing to the location and relatively univocal characteristics of the lesion signal. The existence of a bifocal mass developed in both suprasellar region and pineal zone is highly suggestive of a germinoma. The most important notion is to recognize that at the time of diabetes insipidus diagnosis in a child, the cerebral mass might be too small to be identified by MRI. In such patients, repeating imaging study should be obtained.

We present the experience of the Citadelle Hospital (Liege, B) in the diagnosis, treatment and follow-up of medulloblastoma in children. A retrospective study of 10 cases of medulloblastoma was performed. Five years after diagnosis, the event-free survival was 77%.

Abdominal ultrasonography in acute conditions gives sometimes the definite diagnosis or at least indicates a strategy for further examinations. This technique is constantly accurate for the upper part of the abdomen, and its classical indications are dominated by cholecystitis, biliary and urinary lithiasis, pancreatic and aortic painful circumstances. However, its role has been emphasized recently, after famous publications about the usefulness of high resolution ultrasonography for appendicitis and various gut-related acute conditions. The efficacity of abdominal ultrasonography is enhanced by color-doppler and power-doppler, to characterize some inflammatory or ischemic diseases. For the pelvis, endocavitary examination is a "must" for studying uterus and adnexae. The main drawbacks of abdominal ultrasonography are well known: its physical limitations and mainly its operator-dependence.

Intussusception is a rare cause of obstruction in the neonate. The authors report the case of a preterm babygirl operated at D8 for total rupture of the distal ileum proximal to intussusception. They suggest that the great prematurity might be responsible for this lesion similar to small bowel atresia secondary to antenatal intussusception.

The authors report on a case of a large triangular calcification of the left adrenal gland that was incidentally detected in a 6-year-old girl. After a 9 month follow-up, the urinary levels of VMA and HVA and 131I MIBG scintigraphy were the determining factors for diagnosing a ganglioneuroblastoma and for subsequent choice of treatment.