Faculty Bibliography

Tuberous sclerosis (TS) is an autosomal dominant condition associated with mutations in the TSC1 and/or TSC2 genes. Clinical manifestations are multisystemic, and they often include lesions in the brain, skin, heart, kidneys, and bones. TSC2 gene mutations can be seen concomitantly with autosomal dominant polycystic kidney disease gene mutations. We present a case of a fetus with prenatal diagnosis of TS that had unique asymmetrical distribution of renal cystic disease. We describe the extensive work up with both fetal and neonatal magnetic resonance imaging with correlating images of the unilateral polycystic renal disease in addition to typical TS brain findings.

Immune reconstitution inflammatory syndrome (IRIS) is a well-described complication of initiation of highly active antiretroviral therapy in HIV-infected patients. As the immune system recovers, an inappropriate inflammatory response often occurs that causes significant disease. It is most commonly seen in patients naive to therapy with CD4+ T-lymphocyte counts <100 cells/cmm and usually presents as a flare of mycobacterial, cytomegalovirus, or herpes zoster infections. Less commonly, this syndrome occurs in response to noninfectious triggers and results in autoimmune or malignant disease. Here we present the first case of acute poststreptococcal glomerulonephritis associated with varicella zoster virus and IRIS in an adolescent with perinatally acquired HIV and hepatitis C virus infections. Our patient was not naive to therapy but was starting a new regimen of therapy because of virologic failure and had a relatively high CD4+ T-lymphocyte count. This case report indicates that IRIS remains a concern after initiation of a new highly active antiretroviral therapy regimen in HIV-infected patients with high viral loads, even in the presence of CD4+ T-lymphocyte counts >100 cells/cmm. It may present as infectious, malignant, or autoimmune conditions including poststreptococcal glomerulonephritis.

ABSTRACT: Menetrier disease is a protein-losing gastroenteropathy often misdiagnosed in the pediatric population. The disease is characterized by hypoalbuminemia secondary to protein loss through the gastrointestinal mucosa and resultant peripheral edema. It is important for emergency department practitioners to consider this diagnosis in the differential diagnosis for edema and low albumin levels in pediatric patients. We present a case report of Menetrier disease in an edematous child and a brief review.

A 7-month-old infant with cutaneous anthrax developed severe systemic illness despite early treatment with antibiotics. The infant displayed severe microangiopathic hemolytic anemia with renal involvement, coagulopathy, and hyponatremia. These findings are unusual with cutaneous anthrax, but have been described in illness resulting from spider toxin and may delay correct diagnosis. The systemic manifestations of the disease persisted for nearly a month despite corticosteroid therapy, but resolved

We performed an observational prospective cohort study on the applicability of two-dimensional echocardiography with pulsed Doppler technique as a noninvasive modality to serially evaluate renal blood velocities in premature neonates with and without umbilical artery catheters. We also sought to determine the incidence of umbilical artery catheter-related thrombus formation in our neonatal intensive-care unit. We established normative values for renal artery blood flow velocities in premature neonates and postulate that this echo-Doppler technique is valid and can be used to evaluate renal developmental physiology in the neonatal population. In addition, we observed that even in the absence of clinical sequelae due to thrombus formation, the presence of a thrombus in the aorta caused abnormalities in renal hemodynamics

Noninvasive translumbar renal artery Doppler blood flow patterns were obtained in 20 normal children, 11 with successfully repaired coarctation, and eight with native or restenosed coarctation. Native or restenosed lesions result in decreased relative systolic velocity and prolonged acceleration time. After successful surgery, the renal flow returns to near normal. This technique may provide a useful tool to explore and predict hemodynamic and renal physiologic changes, and follow the course of therapy

Blood velocity waveforms in peripheral arteries vary such that decreasing vascular resistance results in a relative increase in diastolic velocity at steady state. We measured blood velocity in renal arteries of 20 children (age: 119 months +/- 37 months; weight: 38 kg +/- 15 kg) to establish normal values, and to explore the relationship between these waveforms and central hemodynamics. Using image-directed pulsed Doppler echocardiography, M-mode measurements and cardiac index were recorded. Renal hila were visualized via the flank for Doppler sampling. Peak systolic velocity (A) and minimal diastolic velocity (B) were determined. The results (mean +/- SD) were as follows: Renal artery A/B = 2.9 +/- 0.74 (range 1.9 to 5.1). Characteristic waveforms were identical bilaterally and had continuous diastolic forward flow: A/B was independent of central hemodynamics within the resting normal range, varying inversely with age and size