Severe neonatal hypercalcemia revealing congenital mesoblastic nephroma: A case report and management of neonatal hypercalcemia: Severe neonatal hypercalcemia revealing congenital mesoblastic nephroma.

Congenital mesoblastic nephroma is a rare pediatric renal tumor and has been reported in patients presenting with palpable abdominal mass, arterial hypertension, hematuria, polyuria, or hypercalcemia. Here we present the case of a 1-month-old neonate with suspected parathyroid hormone (PTH)-related peptide (PTH-rp)-mediated severe hypercalcemia revealing congenital mesoblastic nephroma. Preoperatively, hypercalcemia was corrected with hydration, furosemide, pamidronate, and low-calcium infant formula. Unilateral nephrectomy led to the resolution of hypercalcemia, transient hyperparathyroidism, and transient vitamin D and mineral supplementation. We conclude that congenital mesoblastic nephroma can secrete PTH-rp that can cause severe hypercalcemia.

In Vivo Assessment of Elasticity of Child Rib Cortical Bone Using Quantitative Computed Tomography.

Elasticity of the child rib cortical bone is poorly known due to the difficulties in obtaining specimens to perform conventional tests. It was shown on the femoral cortical bone that elasticity is strongly correlated with density for both children and adults through a unique relationship. Thus, it is assumed that the relationships between the elasticity and density of adult rib cortical bones could be expanded to include that of children. This study estimated in vivo the elasticity of the child rib cortical bone using quantitative computed tomography (QCT). Twenty-eight children (from 1 to 18 y.o.) were considered. Calibrated QCT images were prescribed for various thoracic pathologies. The Hounsfield units were converted to bone mineral density (BMD). A relationship between the BMD and the elasticity of the rib cortical bone was applied to estimate the elasticity of children's ribs in vivo. The estimated elasticity increases with growth (7.1 ± 2.5 GPa at 1 y.o. up to 11.6 ± 1.9 GPa at 18 y.o.). This data is in agreement with the few previous values obtained using direct measurements. This methodology paves the way for in vivo assessment of the elasticity of the child cortical bone based on calibrated QCT images.

Diagnostic value of ultrasonography in elbow trauma in children: Prospective study of 34 cases.

INTRODUCTION: Among the various elbow injuries in children that initially have normal radiographs, a certain number of occult fractures are only diagnosed correctly after the fact, during a follow-up visit. PURPOSE: This study evaluated the diagnostic contribution of ultrasonography in the treatment of acute elbow injuries in children and the strategic and economic impact of using this tool alongside radiography. MATERIALS AND METHODS: During this prospective study performed between January 1 and April 1 2014, elbow ultrasonography was performed within 6 days in all children under 15 years of age with a suspected occult fracture. The ultrasonography exam looked for lipohemarthrosis, the posterior fat pad sign and cortical disruption. If no fracture was visible on ultrasonography, a removable splint was given to the patient to relieve pain, and no radiological or clinical follow-up was scheduled. The patients were contacted again at least 15 days later to determine whether an undetected fracture was present. Lastly, we evaluated the cost of treatment with and without ultrasonography in the cases where no fracture was diagnosed. RESULTS: In 13 cases, ultrasonography revealed lipohemarthrosis and a fat pat sign, with cortical disruption also present in 11 of these cases. In two cases, the diagnosis was made based solely on the presence of lipohemarthrosis and a fat pat sign. There were seven lateral condyle fractures, two medial epicondyle fractures and two supracondylar fractures. Among the 21 patients with normal ultrasonography, no fracture was diagnosed later on. In patients without a fracture, using ultrasonography resulted in a cost savings of €29.10 per patient versus not using it. CONCLUSION: In our study, ultrasonography is a sensitive examination for the diagnosis of occult elbow fractures in children. When the radiography and ultrasonography are both normal, the possibility of fracture can be rule out definitively, which reduces the need for immobilization, follow-up and treatment costs. The findings of this preliminary study should be validated with a larger prospective study.

Spontaneous regression of suspected cystic dysplasia of the rete testis in three neonates.

INTRODUCTION: Cystic dysplasia of the rete testis (CDRT) is a rare cause of scrotal swelling during infancy. It is a benign lesion that is often associated with ipsilateral renal, ureteral or genital abnormalities. Leissring and Oppenheimer described it for the first time in 1973. CASE REPORTS: Since 2006, three neonates were referred to our pediatric surgery department because of a scrotal swelling related to intra-testicular cysts. Physical examination showed enlarged testicles without pain or inflammation. The ultrasound scan (USS) showed enlarged testicles related to multiple small cysts surrounded by normal parenchyma, and no other urinary abnormalities. As CDRT was suspected, a conservative strategy was proposed with repeated clinical examinations and USS. The cysts gradually regressed and disappeared in all cases, with a mean follow-up of 52 months. DISCUSSION: As reported by Jeyaratnam et al., mean age at presentation was around 6 years. The most frequently associated urinary abnormalities were renal agenesis and multicystic dysplasia of the kidney. Differential diagnosis of CDRT included single testicular cyst, epidermoid cyst, albugina cyst, teratoma, cystic lymphangioma, testicular juvenile granulosa cell tumor, cystic transformation after orchitis, or spermatic cord torsion. Ultrasonography was the method of choice for the diagnosis of CDRT and its follow-up. The USS showed multiple small cysts with normal, but compressed, surrounding testicular parenchyma. A high-frequency transducer was mandatory to exclude other causes of scrotal swelling. With the involution of the cysts, the aspect of the parenchyma could be slightly heterogeneous or confused with microlithiasis. Historically, orchidectomy was the proposed treatment. However, because of a more precise diagnosis with USS, a conservative approach has been proposed. Nonetheless, recurrence after sparing surgery was frequent, as reported by many authors. Non-surgical management was reported in selected cases, sometimes after a surgical biopsy to confirm a benign lesion. Spontaneous regression of CDRT without any sequelae has been reported in six cases (see Summary Table) but long-term follow-up in the adult population has never been published. Limitations of the present series were related to the small number of cases, the absence of follow-up beyond puberty, and the absence of biopsy to confirm the diagnosis of CDRT. CONCLUSION: Spontaneous regression of CDRT was possible, and conservative attitude was an option, as CDRT is a benign lesion. Careful and prolonged 'watch and wait' management was a safe alternative to surgery, but other causes of scrotal swelling must be excluded, possibly with a testicular biopsy.

[Deep vein thrombosis revealing myeloproliferative syndrome in two adolescents]. / Thrombose splanchnique révélatrice d'un syndrome myéloprolifératif chez deux adolescentes.

Deep vein thrombosis occurs in 30% of patients with essential thrombocythemia, but rarely at initial diagnosis. We report two pediatric patients with essential thrombocythemia revealed by atypical deep vein thrombosis. First, a 16-year-old girl presented Budd-Chiari syndrome revealed by a hemorrhagic shock. Clinical exam revealed isolated splenomegaly. A search for thrombophilia found a factor V Leiden homozygous mutation and a Jak2 mutation. Bone marrow biopsy confirmed the diagnosis of a myeloproliferative disorder. The second case, a 17-year-old girl, had a routine examination by her physician that revealed splenomegaly. Ultrasonography displayed thrombus in the splenic and portal vein. An isolated Jak2 mutation was found and a myeloproliferative disorder was confirmed by bone marrow biopsy. The diagnosis of myeloproliferative disorder was made in both patients presenting atypical venous thrombosis with a Jak2 mutation and confirmed by bone marrow biopsy. These initial presentations of myeloproliferative disorders are rare in childhood and possibly underdiagnosed.

[Granulocytic sarcoma, a diagnostic challenge: 3 pediatric cases]. / Le sarcome granulocytaire, un diagnostic à connaître : à propos de 3 observations pédiatriques.

Granulocytic sarcoma (GS) is a rare extramedullary tumor frequently associated with acute myeloblastic leukemia (AML). We report 3 cases of pediatric granulocytic sarcomas with various locations: skin, orbit, and bowel. Cases 1 and 2 were associated with AML; case 3 was isolated. In all 3 cases, the diagnosis was delayed or initially missed. Pathology and immunohistochemistry data identified the disease. GS is treated with chemotherapy, like AML. The prognosis of GS seems better than that of isolated AML.

Abnormal Sylvian fissure on prenatal cerebral imaging: significance and correlation with neuropathological and postnatal data.

OBJECTIVE: To illustrate and determine the significance of abnormal Sylvian fissure development (or abnormal operculization) in cases in which prenatal cerebral imaging is suggestive of underlying cortical dysplasia. METHODS: This was a retrospective study of 15 fetuses at 24-34 weeks in which abnormal operculization was identified on prenatal cerebral imaging and for which follow-up data were available. The imaging findings were correlated to macro- and microscopic neuropathological data (n = 11) or to postnatal clinical and imaging findings (n = 4). RESULTS: On microscopic examination of fetuses from 11 terminated pregnancies, abnormal operculization was associated with cortical dysplasia in four cases and the cortex was normal in seven. Abnormal operculization was associated with cortical dysplasia in only one of the four liveborn infants. Cases of abnormal Sylvian fissure development with normal cortical architecture were classified, according to associated anomalies of the central nervous system, into one of five groups: those with neural tube defects, microcephaly or frontal hypoplasia, glutaric aciduria, other cerebral abnormalities, and extracerebral anomalies. CONCLUSION: Abnormal operculization on prenatal imaging does not systematically reflect underlying cortical dysplasia. It may be related to extracortical factors such as abnormal cerebral volume or other developmental anomalies of the central nervous system. An understanding of the significance of abnormal Sylvian fissure development could be useful in integrating its analysis into a more general one of the whole central nervous system.

Invasive aspergillosis and allogeneic hematopoietic stem cell transplantation in children: a 15-year experience.

Despite progress in diagnosis and treatment, invasive aspergillosis (IA) remains a principal cause of mortality due to infection after allogeneic hematopoietic stem cell transplantation (AHSCT). In order to clarify the course of IA among children receiving an AHSCT before the advent of new drugs such as voriconazole or caspofungin, we retrospectively reviewed the medical records of all proven and probable IA between January 1986 and December 2000. 1) Ten children developed IA after AHSCT, mostly long after transplantation. Overall incidence was 2.7%. Seven of those children experienced 1 or more complications after AHSCT and before IA. Mortality was 90% with a median survival of 23 days (2-90). 2) Five children underwent AHSCT after a previous episode of IA. All patients were treated with systemic antifungal therapy combined with surgery. Median time between IA and AHSCT was 110 days (73-370). Two children were diagnosed with IA relapse after transplantation. One child was cured while the other died of IA and AHSCT complications. AHSCT could be considered even in the setting of previous IA, but established strategies implementing newer less toxic antifungal agents as treatment or prophylaxis in high-risk patients are needed.

Voiding ultrasonography: evaluation of the detection of vesicoureteral reflux based on the review of digital ultrasound clips.

PURPOSE: To evaluate the accuracy of voiding urosonography (VUS) compared to X-ray voiding cystoureterography (VCUG) for the detection and grading of vesicoureteral reflux (VUR) by standardised reading of digital clips obtained from VUS and digital images from VCUG. MATERIALS AND METHODS: Approval by the ethics committee was obtained, and written, informed consent was given. 130 children (94 girls and 36 boys, mean age of 4.4 years) underwent VUS using Levovist (Schering, Germany) prior to VCUG. Digital VUS clips and digital VCUG images were reviewed by two groups of two radiologists. Results were mainly analysed in terms of reno-ureteral units (RUUs). Intra and interobserver reproducibility was estimated by calculation of kappa coefficient. Calculation of sensitivity and specificity of VUS was made in comparison with VCUG. RESULTS: Intraobserver reproducibility was good to moderate for the detection of VUR using VUS (kappa = 0.67 and 0.53 for each reviewer respectively) and good for the grading of reflux (kappa = 0.64 and 0.70). Interobserver reproducibility was excellent for the detection and grading of VUR using VCUG (kappa = 0.89 and 0.91) but good to moderate for VUS (kappa = 0.73 and 0.51). Compared to VCUG, sensitivity and specificity of VUS for the detection of VUR were 62.7 % and 83.4 %. Concordance for grading was moderate, with a higher grading using VUS. CONCLUSION: Real-time evaluation and diagnosis based on the review of VUS digital clips is achievable. However, there is a need for standardisation of digital records if a second reading by another radiologist or consideration by urologists is needed. Recent advances in US technology and the use of second-generation contrast agents would be promising to improve the feasibility, reproducibility and accuracy of the method.

Complications of Ilizarov leg lengthening: a comparative study between patients with leg length discrepancy and short stature.

The Ilizarov technique has been used to treat severe limb length discrepancy and short stature. However, complications of this treatment are frequent. Between 1984 and 2001, 57 patients (94 tibias) had an Ilizarov procedure for limb lengthening. Twenty patients had limb discrepancy and 37 had short stature. Their mean age was 20.2 years (range 15-34). The average limb lengthening was 8.37 cm (range 3.2-14.7), which was equivalent to 26% (range 9.2-60%) average tibial lengthening. A total of 90 complications were observed. Thirty-three unplanned procedures were required during the lengthening programme. Two patients stopped the lengthening programme. There was no difference in the complications in leg lengthening using Ilizarov technique between the group of patients with leg length discrepancy and the group with short stature. A good knowledge of the Ilizarov technique is necessary to perform a lengthening programme with a low rate of complications.

[Rib fractures after chest physiotherapy: a report of 2 cases]. / Fractures costales au cours des bronchiolites aiguës virales: à propos de 2 cas.

The 2000 French consensus conference for acute viral bronchiolitis management underlined the fundamental role of chest physiotherapy. According to Chalumeau and al., rib fractures were found out in 1/1000 children hospitalized for bronchiolitis or pneumonia. However, such complication of chest physiotherapy is exceptional. We report 2 cases with third to sixth lateral rib fractures after chest physiotherapy in infants with bronchiolitis. Despite the rarity of these complications, clinicians must keep in mind this etiology while facing rib fractures in infants.

[Value of contrast-enhanced MR enterography in pediatric Crohn's disease: preliminary study]. / Valeur de l'entéro-IRM avec injection de gadolinium dans la maladie de Crohn en pédiatrie: étude préliminaire.

OBJECTIVE: Feasibility study of contrast enhanced MR enterography without enteroclysis as a new diagnostic tool for children with known or suspected Crohn's disease. METHODS: We prospectively included 15 children, 8-18 years old, with clinical suspicion of Crohn's disease. MR enterography without enteroclysis was performed on a 1,5 T clinical MR system. A total of 1000 ml of mannitol 5% was orally administered 60 minutes prior to MRI. Coronal and axial breath-hold sequences were acquired. The following sequences were obtained: True-FISP, FLASH T1 2D/3D with Fat saturation before and after gadolinium injection. Two radiologists, blinded to patient information, independently reviewed all examinations to record image quality, the degree of distension of the distal ileum, the presence of abnormal bowel segments and the presence of extra-intestinal complications. MRI findings were correlated to sonographic, endoscopic and biological results (sensitivity, specificity, Kappa test). RESULTS: The examinations were considered of satisfactory diagnostic quality in 93.3% of patients. Respiratory artifacts were present in one case. The entire GI tract could be identified on all sequences. Distention of the distal ileum was recorded as good to excellent in 89% of healthy subjects. Five MR examinations were considered abnormal with isolated ileal involvement in 2 cases, ileocolic involvement in 2 cases, and isolated colonic involvement in 1 case. The sensitivity and specificity of MR for the positive diagnosis of Crohn's disease were 100% and 83% respectively. Three extra-intestinal complications were detected: one case of ileo-ileal fistula, not identified on ultrasonography, an asymptomatic anal fistula and a symptomatic inflammatory stricture. CONCLUSION: MR enterography without enteroclysis is a well tolerated, effective non invasive method in the evaluation of known or suspected Crohn's disease. Because of the absence of ionizing radiation, MR enterography should become the gold standard in pediatric patients.

[Gastric trichobezoar in an adolescent presenting with anemia: ultrasound and MRI findings]. / Trichobézoard gastrique révélé par une anémie chez une adolescente: association échographie--imagerie par résonance magnétique (IRM).

Trichobezoars are rare and composed of ingested hair or fibers. Diagnosis is usually made by plain radiographs and barium meal. The usefulness of computed tomography has been reported in the preoperative period. In the pediatric population the authors propose, based on a recent case report, a non invasive and non irradiating protocol using sonography and T1W and T2W MR imaging.

Prenatal diagnosis of congenital genu recurvatum following amniocentesis complicated by leakage.

Congenital genu recurvatum (CGR) is an extremely rare condition observed at birth. It is associated with, among other malformations, genetic entities such as the Larsen syndrome. When CGR is isolated, orthopedic treatment will usually lead to a good functional prognosis. We report the first case of isolated CGR diagnosed prenatally and suspected to be a consequence of reduced amniotic fluid volume due to leakage following amniocentesis. The etiology and management options for CGR are briefly discussed.

Prenatal presentation of cervical congenital neuroblastoma.

OBJECTIVE: To describe a cervical neuroblastoma revealed in the prenatal period. METHOD: We were recently confronted with a case of fetal solid neck mass suggestive of teratoma, which proved postnatally to be a neuroblastoma. Combining this case with a review of recent literature, we have evaluated the diagnostic tools required for increased precision in the prenatal diagnosis and perinatal management of fetal solid neck masses. RESULTS: Detailed ultrasound and MRI of fetal neck and liver, in conjunction with amniocentesis for measurement of homovanillic acid levels, should enable fetal medical practitioners to consider the diagnosis of fetal cervical neuroblastoma. CONCLUSION: Fetal cervical neuroblastoma is an extremely rare condition that has not been previously reported, but should be considered in the presentation of fetal solid neck masses.

[Rectal localization of Burkitt's lymphoma]. / Lymphome de Burkitt de localisation rectale.

BACKGROUND: Rectal tumors are rare in childhood and among them malignant tumors are even less common. Only eight cases of primary rectal lymphomas were reported in children, with various presenting signs and histology. Burkitt's lymphomas are among these cases. CASE REPORT: A five-year-old child presented with hematochezia and unusual constipation. The rectal examination showed a voluminous intra rectal mass. Radiographic and pathologic examinations led to the diagnostic of Burkitt's lymphoma with medullary involvement. Complete remission was obtained after initial chemotherapy but a local relapse occurred and the child died eight months later. CONCLUSION: Hematochezia associated with unusual constipation impose a rectal examination. Early diagnosis of a rectal tumor may allow patients survival.