Nephrogenic rest within a lipomyelomeningocele in a patient with unilateral renal agenesis.

Nephrogenic rests (NR) are foci of embryonal renal tissue that persist beyond the normal period of renal morphogenesis. They are commonly found in kidneys bearing Wilms tumor but may also rarely occur in different locations. Nephrogenic rests have been reported in the lumbosacral area in a total of nine cases, including our case. Of the nine cases, only one case prior to ours showed agenesis of one kidney in association with the NR. We report a 2-year-old female with a lipomyelomeningocele containing NRs and agenesis of the right kidney and discuss the molecular genetic basis of lumbosacral NR.

Mesenteric cystic masses: a series of 21 pediatric cases and review of the literature.

Mesenteric cysts, seen in all age groups, represent a rare cause of benign abdominal masses in children. We reviewed 21 patients with mesenteric/omental cysts. Gross and radiologic images, along with histologic sections, were reviewed to categorize the structures and determine the relationship to the mesentery and intestines. The cysts were composed of multi-loculated dilated channels at the serosal surface consistent with lymphangioma. Most treatment was simple excision, infrequently with intestinal resection. Nineteen patients did well after surgery. One patient developed short-gut syndrome after massive bowel resection, and one patient died immediately after birth due to massive fetal hydrops and heart failure.

Two case reports of anophthalmia and congenital heart disease: Adding a new dimension to this association.

Anophthalmia is the congenital absence of ocular tissue from the orbit. Many syndromes and malformations (e.g., anophthalmia-esophageal-genital syndrome, Matthew-Wood syndrome, CHARGE syndrome, oculo-facial-cardio-dental-syndome, heterotaxy, and Fraser syndrome) have been associated with anophthalmia. However, its relation with congenital heart disease has not been fully elucidated. In this article, we discuss two cases of patients with anophthalmia and congenital heart defects, and we compare these findings with other syndromes with which anophthalmia has been associated. One of our two patients showed complex congenital heart disease with heterotaxia, polysplenia, and normal lung lobation. These findings may reflect a new dimension of anophthalmia, heterotaxia, and congenital heart disease associations.

Cytomegalovirus IgG Level and Avidity in Breastfeeding Infants of HIV-Infected Mothers in Malawi.

Cytomegalovirus (CMV) infection is common among infants of HIV-infected mothers in resource-limited settings. We examined the prevalence and timing of infant CMV infection during the first year of life using IgG antibody and avidity among HIV-exposed infants in Malawi and correlated the results with the presence of detectable CMV DNA in the blood. The Breastfeeding, Antiretrovirals and Nutrition (BAN) study randomized 2,369 mothers and their infants to maternal antiretrovirals, infant nevirapine, or neither for 28 weeks of breastfeeding, followed by weaning. Stored plasma specimens were tested for CMV IgG and antibody avidity from a random subset of infants who had been previously tested with blood CMV PCR and had available specimens at birth and at 24 and 48 weeks of age. Ninety-four of 127 infants (74.0%) tested at 24 weeks of age had CMV IgG of low or intermediate avidity, signifying primary CMV infections. An additional 22 infants (17.3%) had IgG of high avidity; 19 of them had CMV DNA detected in their blood, indicating infant infections. Taken together, these results show that the estimated prevalence of CMV infection at 24 weeks was 88.9%. By 48 weeks of age, 81.3% of infants had anti-CMV IgG; most of them (70.9%) had IgG of high avidity. The CMV serology and avidity testing, combined with the PCR results, confirmed a high rate of primary CMV infection by 6 months of life among breastfeeding infants of HIV-infected mothers. The CMV PCR in blood detected most, but not all, infant CMV infections.

Effect of cytomegalovirus infection on breastfeeding transmission of HIV and on the health of infants born to HIV-infected mothers.

BACKGROUND: Cytomegalovirus (CMV) infection can be acquired in utero or postnatally through horizontal transmission and breastfeeding. The effect of postnatal CMV infection on postnatal HIV transmission is unknown. METHODS: The Breastfeeding, Antiretrovirals and Nutrition study, conducted in Malawi, randomized 2369 mothers and their infants to three antiretroviral prophylaxis arms - mother (triple regimen), infant (nevirapine), or neither - for 28 weeks of breastfeeding, followed by weaning. Stored plasma and peripheral blood mononuclear cell specimens were available for 492 infants at 24 weeks and were tested with CMV PCR. Available samples from infants who were CMV PCR-positive at 24 weeks were also tested at birth (N = 242), and from infants PCR-negative at 24 weeks were tested at 48 weeks (N = 96). Cox proportional-hazards models were used to determine if CMV infection was associated with infant morbidity, mortality, or postnatal HIV acquisition. RESULTS: At 24 weeks of age, CMV DNA was detected in 345/492 infants (70.1%); the estimated congenital CMV infection rate was 2.3%, and the estimated rate of CMV infection at 48 weeks was 78.5%. CMV infection at 24 weeks was associated with subsequent HIV acquisition through breastfeeding or infant death between 24 and 48 weeks of age (hazard ratio 4.27, P = 0.05). CONCLUSION: Most breastfed infants of HIV-infected mothers in this resource-limited setting are infected with CMV by 24 weeks of age. Early CMV infection may be a risk factor for subsequent infant HIV infection through breastfeeding, pointing to the need for comprehensive approaches in order to achieve elimination of breastfeeding transmission of HIV.

Unusual presentation of ovarian cellular fibroma coexisting with nodular sclerosing Hodgkin's disease: a case report and review of the literature.

A case of a nonfunctioning, noncalcified ovarian cellular fibroma in a 15-year-old adolescent girl is described. The fibroma was found incidentally in a patient who was later found to have nodular sclerosing Hodgkin's disease. The patient presented with symptoms suggestive of lymphoma but on exam was found to have a mobile and nontender abdominal mass. Laparotomy exposed a smooth, well-circumscribed left ovarian mass. A left salpingoophorectomy was performed. The mass weighed 2390 g and measured 19 x 15 x 8.5 cm. Approximately 15% of the tumor was composed of large cellular nodules identified as spindle cells having a storiform pattern. Mild nuclear atypia with 2 mitosis per 10 high-power fields was noted. An ovarian fibroma in a 15-year-old is an unexpected diagnosis. Less than 1% of ovarian stromal tumors are found in patients 19 years and younger. The uncommon histology and additional classification as a cellular fibroma as well as the simultaneous diagnosis of 2 neoplasms in this case are remarkable.