Intussusception in children: lessons learned from intestinal lymphoma as a rare lead-point.

BACKGROUND: Most cases of intussusception in children are idiopathic. Rarely, a malignant disease such as intestinal lymphoma may cause intussusception. Due to dramatic changes of expected outcome with chemotherapy regime alone, the surgical management of patients with intestinal lymphoma presenting with intussusception has to be reevaluated. METHODS: Retrospective chart review from May 2011 to February 2017. We included all patients with intestinal lymphoma presenting with intussusception. RESULTS: We found five patients with a mean age of 6.4 years (range 3-16). The most common presenting symptom was abdominal pain for several weeks which had acutely worsened. In all but one patient an ultrasound before pneumatic or hydrostatic reduction showed a finding suspicious of a pathological lead-point. Pneumatic or hydrostatic reduction was attempted in all patients, no complications were noted. In one patient reduction was not successful. Recurrence after reduction occurred in two patients. Two patients needed surgery, three had a percutaneous ultrasound-guided biopsy for diagnostic purposes. All patients had aggressive mature B cell non-Hodgkin lymphoma. CONCLUSION: A high index of suspicion for the presence of a pathological lead-point in children older than 4 years and children with recurrent intussusception is necessary in patients presenting with intussusception. Malignant, highly aggressive B cell non-Hodgkin lymphoma, although rare, must actively be searched for. Pneumatic or hydrostatic reduction should remain the first line treatment in most cases.

Incidence and predictors of indwelling arterial catheter-related thrombosis in children.

BACKGROUND: Indwelling arterial catheters (IACs) are used for monitoring and blood sampling purposes in intensive care units. Very limited information is available on the incidence and risk factors of IAC-related thrombosis in children. OBJECTIVE: To investigate the incidence and predictors of IAC-related thrombosis in a tertiary care pediatric hospital. METHODS: For a period of 12 months, detailed information was prospectively recorded for all consecutive children requiring IACs. RESULTS: Six hundred and fifteen IACs were placed in a total of 473 children at a median age of 0.56 years for a total of 47440.84 catheter hours. Of the 615 IACs, 418 (68%) were placed in the radial artery, 137 (22%) in the femoral artery, 26 (4%) in the umbilical artery, 11 (2%) in the brachial artery, and 23 (3.7%) in another artery. Thrombosis occurred in 20 cases, reflecting an overall incidence of 3.25%. Eighteen of the 20 IAC-related thrombi were located in the femoral arteries, reflecting a relative incidence of 13% (18/137). Newborn age, lower body weight, low cardiac output and increased hematocrit were significantly related with an increased risk of femoral artery thrombosis. In logistic regression analysis, younger age (P<0.001, odds ratio 6.51) was independently associated with an increased thrombotic risk. CONCLUSIONS: This study demonstrates that arterial thrombosis occurs with an increased incidence in children requiring IACs in the femoral location. Younger age is independently associated with an increased risk of thrombosis. The radial location is safe, and should be preferred to the femoral location.

Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region.

Autosomal dominant medullary cystic kidney disease (MCKD) is an adult onset tubulointerstitial nephropathy that leads to salt wasting and end-stage renal failure. A gene locus (MCKD1) has been mapped on chromosome 1q21. Here we report on a large MCKD1 family of British origin linked to the MCKD1 locus. Haplotype analysis performed with markers spanning the previously reported critical MCKD1 region allowed for the refinement of this interval to 4 cM by definition of D1S305 as a new proximal flanking marker. Furthermore, we constructed a yeast artificial chromosome, P1-related artificial chromosome, and bacterial artificial chromosome contig of this region, which is only sparsely covered by the Human Genome Sequencing Project. This enabled us to map numerous expressed sequence tags within the critical interval. This physical and partial transcriptional map of the MCKD1 region is a powerful tool for the identification of positional and functional candidate genes for MCKD1 and will help to identify the disease-causing gene.

Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease.

BACKGROUND: Autosomal dominant medullary cystic kidney disease is a genetically heterogeneous nephropathy with clinical and morphological features similar to recessively inherited juvenile nephronophthisis. Recently, a second gene locus on chromosome 16p12, MCKD2 has been mapped [1] in addition to the known locus on chromosome 1q21 (MCKD1) [2]. In a previous study we have excluded linkage for three caucasian families to the MCKD1 locus [3]. METHODS: Haplotype analysis was performed on 72 individuals (including 24 affected subjects), using a set of seven microsatellite markers spanning the critical region on chromosome 16p12-p13 of about 10.5 cM. RESULTS: We report on haplotype analysis of closely linked markers to the MCKD2 locus in the previously studied families and two additional families. CONCLUSION: In all five families the association of MCKD2 with the disease was excluded by a multipoint LOD score <-2, thus suggesting the involvement of a third MCKD locus.