Plasmapheresis treatment of antibody-mediated rejection in an A2 donor to O pediatric liver transplant recipient.

It is safe to transplant kidneys from blood group A2 donors into O recipients if the latter have low titers of anti-A antibodies. However, in liver transplantation, O and B recipients of A2 donor livers are not routinely screened for anti-blood group antibodies because of the immuno-absorptive capacity of the liver and the low incidence of antibody-mediated rejection. Herein, we report a rare case of combined cell and antibody-mediated rejection in a pediatric blood group O recipient of an A2 donor liver, and rescue of the allograft using PP and IVIG.

Acute renal failure: unusual complication of Epstein-Barr virus-induced infectious mononucleosis.

A 17-year-old boy with juvenile rheumatoid arthritis presented with jaundice, confusion, hemolytic anemia, thrombocytopenia, and acute renal failure secondary to titer-confirmed acute Epstein-Barr virus (EBV). Renal biopsy specimen revealed interstitial nephritis with an inflammatory infiltrate composed of cytotoxic/suppressor T cells, and interstitial mononuclear cell nuclei expressed EBV encoded RNA-1 (EBER-1) mRNA. Methylprednisolone treatment resulted in rapid improvement.

Therapy associated changes in childhood tumors.

Contemporary treatment regimens for the common solid tumors of childhood have led to increased numbers of post-treatment pathologic specimens from survivors. Current therapeutic strategies for childhood cancers in North America require an accurate pathologic diagnosis and stratify patients based on combinations of clinical, biological, and pathologic features. In several tumor systems, the pathologic response to therapy also modifies the treatment regimen. Accurate pathologic interpretation of such specimens is critical in providing useful prognostic information for therapeutic decisions. Standardized handling of post-therapy pathologic specimens, appropriate use of molecular and genetic studies, consideration of the differential diagnoses, and assessment of the potential biologic significance of therapy-induced pathologic changes are, therefore, critical for patient management and determination of treatment protocols.

Inverted papilloma of the urinary bladder in children: case report and review of prognostic significance and biological potential behavior.

Inverted papilloma of the urinary bladder is rare in the pediatric population. Despite several reports in the literature the prognostic significance and biological potential behavior of this lesion remain uncertain. The authors report a case of polypoid inverted papilloma of the urinary bladder in an 11-year-old boy and review its pathology. The pediatric population with this lesion is an ideal group to provide intense, long-term follow-up to define the biological behavior and prognosis significance of this lesion.

Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps.

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a disorder that includes juvenile polyposis as part of its pathologic spectrum, and it recently has been shown to share phenotypic and genotypic features with Cowden's disease. In existing literature, descriptions of intestinal pathology in patients with BRRS are relatively sparse and occasionally erroneous. We describe the intestinal pathology in multiple specimens from three children with BRRS. Examination of gastrointestinal biopsies from these children revealed predominantly colonic and rectal polyps with the histology of juvenile polyps. Additionally, two cases with clusters of ectopic ganglion cells within the lamina propria, one in a colonic polyp and one in a duodenal biopsy, and an atypical polyp were observed. Bannayan-Riley-Ruvalcaba syndrome should be included in the list of differential diagnostic considerations when a child or young adult presents with a juvenile polyp, particularly if unusual histologic features such as atypical polyps or ectopic ganglion cells are encountered.

Evidence by spectral karyotyping that 8q11.2 is nonrandomly involved in lipoblastoma.

We report two cases of lipoblastoma with chromosome 8-related aberrations, ie, a 92,XXYY,t(7;8Xp22;q11.2)x2 [8]/46,XY[16] in Case 1 and a 46,XY,-8,-13,add(16) (q22),+mar, +r [cp13]/46,XY[7] in Case 2. Using spectral karyotyping and fluorescence in situ hybridization techniques, the karyotype of Case 2 was redesignated as 46,XY, r(8), del(13)(q12), der(16)ins(16;8)(q22; q24q11.2)[cp13]/46,XY[7]. This report delineates a new chromosome rearrangement, ie, der(16)ins(16;8)(q22; q24q11.2) in lipoblastoma, and also confirms the t(7; 8)(p22;q11.2), reported only once previously, as a recurrent translocation involved in such a tumor. These findings provide valuable information for clinical molecular cytogenetic diagnosis of lipoblastoma. Furthermore, this report highlights the value of cytogenetic and molecular cytogenetic analysis in differential diagnosis of childhood adipose tissue tumors and adds to the number of lipoblastomas reported with chromosomal abnormalities at 8q11.2.

Inflammatory (pseudosarcomatous) myofibroblastic tumor of the urinary bladder causing acute abdominal pain.

Inflammatory myofibroblastic tumor is a reactive proliferation of myofibroblasts that rarely involves the urinary bladder. The cause of inflammatory myofibroblastic tumor is unknown but may represent an initial reactive process to an infectious agent or trauma that transforms into neoplastic growth. Cases reported in children, however, often lack any preexisting bladder pathology. The authors present a case in a young child that presented as acute abdominal pain. In general, these tumors follow a benign clinical course after resection, although close monitoring is essential given the rarity of this bladder lesion.

Chemistry test ordering patterns after elimination of predefined multitest chemistry panels in a children's hospital.

Predefined multitest chemistry panels (PMCPs) have constituted a large proportion of laboratory tests and patient charges, even in pediatric settings, despite the absence of documented clinical utility for PMCPs and the general availability of random access analyzers that do not require predefined test combinations. We eliminated PMCPs in our tertiary children's hospital but placed no other restrictions on ordering, and observed a 32.7% reduction in the number of automated chemistry tests ordered. All 23 tests in the previous PMCPs showed a decline in utilization, >50% for 8 of the tests and 20-50% for 13 others, and this change was sustained throughout an 8-month follow-up period. The total number of orders for one or more tests increased by 8.2%, but the variety of combinations that were ordered increased by 280%. The most substantial changes included a decrease in the number of orders for combinations of >15 tests, and increases in the number of orders for single tests and combinations of 2 to 5 tests. Orders for combinations identical to all of the former PMCPs declined, with the exception of the 4-test electrolyte panel. There was a marked decline in orders for a 7-test panel identical to the recently defined HCFA-AMA Basic Metabolic Panel, and orders for combinations identical to the HCFA-AMA Liver Function and Extended Metabolic panels were vanishingly rare and nonexistent, respectively. The calculated reduction in patient charges was much greater than actual cost savings, but the reduction in total tests and increase in the variety of test combinations suggest that significant savings can be realized if clinicians are encouraged to order only the tests or combinations they need without imposing procedural, financial, and regulatory burdens.

Eosinophilic infiltration of the enteric neural plexuses in Hirschsprung's disease.

Inflammatory infiltrations of the enteric plexuses are uncommon and are usually lymphoplasmacytic. Within the past 15 years, nine pediatric cases in which a predominantly eosinophilic infiltrate of the gastrointestinal wall with a predilection for the myenteric (Auerbach's) and deep submucosal (Henle's) plexuses were seen at our institution. Two were neonates without gastrointestinal abnormalities who expired shortly after birth. Seven were patients with short-segment Hirsch-sprung's disease. There was a mild increase in mucosal eosinophils in the overlying mucosa and only one patient had peripheral eosinophilia. Follow-up data obtained 1 month to 7 1/2 years after biopsy revealed no development of inflammatory bowel disease, connective tissue disease, malignancy, allergic disorder, or intestinal dysmotility. The proximal location of the infiltrate suggests that it may represent a secondary finding rather than a primary cause of aganglionosis.

Craniopagus parasiticus: a case illustrating its relationship to craniopagus conjoined twinning.

A case of craniopagus parasiticus is described in which the parasitic twin is more fully developed anatomically than in any of the previous reports. Somatic and placental vascular anastomoses between the twins and hypoplasia of the umbilical cord of the parasite were also observed. These findings support the hypothesis that craniopagus parasiticus results from compromise of the blood supply to one of a pair of craniopagus conjoined twins.

Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST.

Ring X chromosomes that lack the X inactivation center and fail to be inactivated have been implicated as a cause of mental retardation and multiple congenital anomalies. We report on a stillborn fetus with karyotype mos45,X/46,X,r(X) and early urethral obstruction or prune-belly sequence, single umbilical artery, limb deficiency, horseshoe kidney, cardiac hypertrophy, persistent left superior vena cava, and axial skeleton abnormalities. Fluorescent in situ hydridization (FISH) studies confirmed that the ring chromosome is X-derived and demonstrated that it lacks the XIST locus. The findings in this fetus are discussed with regard to the spectrum of phenotypes associated with monosomy X and small ring X chromosomes.

The Oddono's sulcus and its relation to the renal "junctional parenchymal defect" and the "interrenicular septum".

The anatomy responsible for the sonographic diagnosis of the renal "junctional parenchymal defect" and "interrenicular septum" is caused by perirenal fat along a line of incomplete fusion of two primary renal lobes. Studies using CT, MRI and cadaver observations are presented. "Oddono's sulcus" is suggested as a name for the changes in honor of the author who first described these anatomic findings.

Report of a complex karyotype in recurrent metastatic fibrolamellar hepatocellular carcinoma and a review of hepatocellular carcinoma cytogenetics.

Metastatic fibrolamellar hepatocellular carcinoma (HCC) was detected in the abdominal lymph nodes of an adolescent male after resection of the primary tumor. No dividing cells were isolated from attempted cytogenetic studies of the primary tumor. However, cytogenetic analysis of lymph node metastases detected 9 and 12 months after partial hepatectomy revealed abnormal hypertriploid karyotypes, with a suggestion of clonal evolution: 62-92 < 3n >,XX, -Y, +3, +6, +6, +7, +7, +8, +10, +13, +15, +16, +20, -21, -22, +mar1 x 2, +mar[cp6]/46,XY[8] and 78 < 3n >,XX, -Y,der(1)t(1;1)(p36.1;q21), +4, +6, +6, +7, +7,i(8)(q10), +10, +15, +20, -21, -22, +mar1 x 2, +mar2[3]/46, XY[17], respectively. Karyotypes of this variant of HCC have not been reported previously. The cytogenetics of HCC are reviewed.

Relapse of precursor B-cell acute lymphoblastic leukemia as an isolated central nervous system mass lesion 9 years after initial diagnosis.

Seven years after completion of chemotherapy for acute lymphoblastic leukemia, diagnosed at the age of 5 years, a black female presented with signs of increased intracranial pressure. Neuroimaging showed a large enhancing extra-axial occipital tumor mass. The resection specimen showed morphologic, cytogenetic, and immunophenotypic features consistent with relapse of the primary leukemia. Bone marrow examination was negative for malignancy. The long duration of complete remission followed by the formation of a mass in the central nervous system are highly unusual features of recurrent acute lymphoblastic leukemia.

A quantitative evaluation of mucosal eosinophils in the pediatric gastrointestinal tract.

Evaluation of the mucosal eosinophil content is important in the interpretation of endoscopic biopsies, as high eosinophil densities might reflect allergic gastrointestinal disease. Reference ranges gleaned from the literature have an upper limit of normal varying from 6 to 20 eosinophils per 400 x high power field. Preliminary data suggest a geographic variation with higher eosinophil counts in the southern United States. We examined intestinal tract mucosa from 44 infants and children who died suddenly and unexpectedly in northeastern Texas. Subjects ranged in age from 3 wks to 17 yrs and were without known gastrointestinal disease. Using formalin-fixed, hematoxylin and eosin-stained 4-microns sections, intramucosal eosinophils were counted in ten consecutive high power fields and the mean eosinophil count determined. Twenty-three subjects (52%) had counts of > 20 eosinophils/high power field from at least one site. There was no correlation with age, sex, season, or cause of death. In a subset of 11 subjects, more extensive sampling showed the cecum and appendix to have the highest concentration of eosinophils and relatively low counts in the stomach and distal large intestine. These observations correlate with our impression that increased numbers of eosinophils, particularly in the proximal colon, are a common feature of otherwise unremarkable pediatric endoscopic biopsies. Efforts to distinguish the proportion of activated eosinophils in B5-fixed mucosal biopsies using the EG2 monoclonal antibody were unsuccessful, as this antibody does not appear specific for activation in B5-fixed tissue. Mucosal eosinophil counts should be interpreted with caution in geographic areas where a high background count is endemic.

Parasitic infections of the central nervous system in children. Part III: Space-occupying lesions.

In the last part of this three-part review of parasitic infections of the central nervous system in children, we consider parasites which due to their size, distribution, or the nature of the host response, tend to cause focal lesions in the brain and spinal cord and therefore present as space-occupying lesions which occasionally mimic malignant tumors. As in Parts I and II, infections are grouped according to their predominant geographic area. Such infections include cysticercosis, one of the more common and important infections of the central nervous system.