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Background: Sentinel lymph node biopsy (SLNB) has only been recently used for childhood neoplasms., Methods: We reviewed all patients younger than 19 years who underwent SLNB for 5 years., Results: Twenty patients were identified (11 male, 9 female). Sentinel lymph node biopsy was performed for 10 sarcomas (5 synovial, 3 rhabdomyosarcoma, 1 epitheliod, 1 other); 9 skin neoplasms (4 melanomas, 3 Spitz nevi, 2 melanocytomas); and 1 acinic cell carcinoma. All patients underwent Technetium 99m sulfur microcolloid injection and 4-quadrant subdermal injection with Lymphazurin 1% (Autosuture, Norwalk, Conn). Six patients required either sedation for lymphoscintigraphy. Intraoperative gamma probe was used. Primary lesions were found in lower extremity (n = 8), upper extremity (n = 6), trunk (n = 3), and head and neck (n = 3). The lymphatic basins were inguinal (n = 8), axilla (n = 8), neck (n = 3), and both inguinal and axilla (n = 1). At least one lymph node was identified in each procedure. Of 20 patients, 5 (25%) had metastatic disease (4 skin neoplasms and 1 sarcoma). There were no complications in our series, and all patients are alive with no recurrence at an average follow-up of 2.2 years., Conclusions: Sentinel lymph node biopsy allows for an accurate biopsy in children. However, some younger patients may require sedation, and it may be more challenging to isolate the sentinel node.

Congenital diaphragmatic hernia (CDH) is a defect seen in approximately 1 in 3500 live births. A complication of CDH is the herniation of abdominal contents into the chest cavity through the defect, which may prevent normal intrauterine development of the lungs. The resultant pulmonary hypoplasia and pulmonary hypertension causes respiratory distress in the newborn, usually requiring some form of intervention before the defect is surgically corrected (Embryology for Surgeons. Baltimore, MD: Williams & Wilkins; 1994:491-539). Extracorporeal membrane oxygenation, which involves cannulation of the superior vena cava (SVC), is often used to manage these infants. However, the mediastinal shift that often occurs with CDH can cause an abnormal acute angulation of the SVC, which during cannulation can result in trauma and possible perforation of the SVC. We present 2 autopsy cases where the infants accidentally died as a result of extracorporeal membrane oxygenation cannulation.

Although rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children, primary rhabdomyosarcomas of the ovary are extremely rare, with only eight well-documented pediatric cases previously reported in the literature. We present two additional cases: an alveolar RMS originating in the right ovary with metastatic spread to the splenic flexure of the colon and to both lungs in a 13-year-old African American girl, and an embryonal RMS arising in the right ovary of a 6-year-old Caucasian girl with pre-operative intra-abdominal rupture and a malignant right pleural effusion. Both patients had complete resection of their primary tumors and received chemotherapy including vincristine, doxorubicin and cyclophosphamide with good response to therapy. Both are alive 8 and 9 months post-operatively.

Congenital central nervous system (CNS) tumors are uncommon, accounting for 1% of all childhood brain tumors. They present clinically either at birth or within the first 3 months. Glioblastoma (GBM) only rarely occurs congenitally and has not been fully characterized. We examined clinicopathologic features and genetic alterations of six congenital GBMs. Tumors were seen by neuroimaging as large, complex cerebral hemispheric masses. All showed classic GBM histopathology, including diffuse infiltration, dense cellularity, GFAP-positivity, high mitotic activity, endothelial proliferation and pseudopalisading necrosis. Neurosurgical procedures and adjuvant therapies varied. Survivals ranged from 4 days to 7.5 years; two of the three long-term survivors received chemotherapy, whereas the three short-term survivors did not. Paraffin-embedded tissue sections were used for FISH analysis of EGFR, chromosomes 9p21 (p16/CDKN2A) and 10q ( PTEN/DMBT1); sequencing of PTEN and TP53; and immunohistochemistry for EGFR and p53. We uncovered 10q deletions in two cases. No EGFR amplifications, 9p21 deletions, or mutations of TP53 or PTEN were noted; however, nuclear p53 immunoreactivity was strong in 5/6 cases. Tumors were either minimally immunoreactive (n = 3) or negative (n = 3) for EGFR. We conclude that congenital GBMs show highly variable survivals. They are genetically distinct from their adult counterparts and show a low frequency of known genetic alterations. Nonetheless, the strong nuclear expression of p53 in these and other pediatric GBMs could indicate that p53 dysregulation is important to tumorigenesis.

Purpose: We present our experience with dynamic contrast enhanced magnetic resonance urography for evaluation and treatment in infants born with prenatally recognized hydronephrosis. We determined the characteristics of renal dysgenesis in this population., Materials and Methods: We reviewed magnetic resonance urography images done within the first 6 months of life in 67 infants born with prenatally recognized hydronephrosis. High resolution imaging was used to establish a morphological diagnosis. Functional evaluation was used to assess obstruction and individual renal function. Voiding cystourethrography was performed in 62 patients., Results: Our study included 67 infants (87 renal units). There were 54 boys and 13 girls with a mean age of 2.8 months (range 0.9 to 4.6). Of these 87 renal units 30 (35%) had ureteropelvic junction obstruction, 18 (21%) had primary megaureters, 10 (11%) had nondilating vesicoureteral reflux, 10 (11%) had fetal folds, 8 (9%) had posterior urethral valves, 6 (7%) had ectopic ureters, 4 (5%) had multicystic dysplastic kidneys and 1 (1%) had a normal study. Magnetic resonance urography revealed renal dysgenesis in 24 renal units (28%), consisting of loss of corticomedullary differentiation, renal cystic changes distinct from multicystic dysplastic kidneys, solid renal dysplasia, hypoplasia and dysmorphic calyces., Conclusions: Magnetic resonance urography is an excellent addition to our armamentarium for evaluating neonatal hydronephrosis and renal dysgenesis. Due to its comprehensiveness magnetic resonance urography has the potential to become the study of choice for evaluating infants with significant prenatally recognized hydronephrosis. However, further prospective, comparative studies in larger patient populations are needed to justify the cost and the need for sedation in infants.

Objectives: Mutations in the tafazzin (TAZ) gene at chromosomal locus Xq28 are responsible for Barth syndrome (BTHS), X-linked endocardial fibroelastosis (EFE), X-linked fatal infantile dilated cardiomyopathy (CMD3A), and familial isolated noncompaction of left ventricular myocardium (INVM). This evaluation was performed to determine if a known familial TAZ gene mutation might present with abnormal fetal cardiac pathology findings as early as the second trimester of pregnancy., Methods: Prenatal diagnosis revealed that a male fetus was positive for a known familial arg94his TAZ gene mutation. An elective termination with subsequent fetal pathology examination was performed at 18 weeks' gestation., Results: Fetal examination revealed cardiomegaly, EFE, and subendocardial vacuolization of the myocytes., Conclusion: Characteristic cardiac pathology findings of a TAZ gene mutation are seen in a fetus at 18 weeks' gestation. To our knowledge, this case provides the earliest fetal pathologic description of a TAZ cardiomyopathy., (Copyright (c) 2006 John Wiley & Sons, Ltd.)

We present a case of an infant with Down syndrome (trisomy 21) who was affected by alveolar capillary dysplasia and other complications including endocardial cushion defect, hypothyroidism, and intrauterine growth restriction. The patient was the product of a third pregnancy to a 33-year-old woman with no significant risk factors. The child lived for 3 months, during which he developed intractable dyspnea, hypoxemia, and cardiac dysfunction and he eventually died from septicemia and multiorgan failure. In addition to the facial phenotypic features and cardiac anomalies, the autopsy revealed the characteristic microscopic pulmonary findings of alveolar capillary dysplasia with misalignment of pulmonary veins. This appears to be the first reported case of this anomaly associated with trisomy 21. In addition to the many reasons for pulmonary hypertension that occur in children with trisomy 21, alveolar capillary dysplasia may have to be included in the differential diagnosis although it appears to be a rare association.

Background: Gastrointestinal stromal tumors (GIST) are a unique subset of intestinal mesenchymal tumors that behave in an aggressive fashion. They have been commonly described in adults but have been rarely observed in children., Methods: The authors review the presentation, diagnostic workup, operative records, pathologic specimens, and outcomes of 3 children with GISTs that originated from the stomach., Results: All 3 children presented after upper gastrointestinal bleeding from the gastric tumor. The first was a 10-year-old girl who underwent partial gastrectomy but had recurrence 8 years later requiring a second resection. She subsequently had a hepatic metastasis 8 years later requiring a third resection. The second patient was a 9-year-old girl who had an antrectomy with a Bilroth I reconstruction and was noted to have a synchronous liver metastasis that was also resected. Despite Imatinib Mesylate, she had further hepatic metastases. The third child was a 4-year-old boy who recently underwent a partial gastrectomy and has no signs of metastatic disease at this time., Conclusions: GISTs are unusual tumors that have been rarely described in children. When they arise in the stomach, they often present after upper gastrointestinal bleeding. Diagnosis can be made by endoscopy and biopsy. GISTs require resection and close observation for hepatic metastases. Current studies are ongoing for the potential role of Imatinib Mesylate for GISTs in children.

We report a unique case of carcinoid cardiopathy. The patient, a 59-year-old white woman with a known carcinoid tumor of the terminal ileum, presented with complete heart block and subsequently died. Because of her clinical presentation, we examined the conducting system at autopsy. The atrioventricular node was heavily infiltrated by metastatic carcinoid. The tumor was also seen in the surrounding atrial myocardium. No other metastatic lesions were seen in the heart. Carcinoid cardiopathy in the form of right-sided endocardial and valvular thickening has been well documented in the literature, and we found these features in our case as well. To our knowledge, carcinoid has never been documented in the cardiac conducting system until now. We found 2 cases of possible involvement of the conducting system reported in the literature. Unfortunately, the conducting system was not examined postmortem in either of these cases. If conducting system involvement is not unique to the present case, patients with metastatic carcinoid and cardiac problems may require different management. We hope that this case will stimulate further postmortem study of the conducting system in patients with metastatic carcinoid tumor.

Objective: To determine the feasibility of using calculated nucleated red blood cell (RBC) counts from histologic placental slides to predict newborn nucleated RBC counts., Methods: This retrospective study compared absolute nucleated RBC counts from 24 newborns, diagnosed with fetal distress in labor, with counts calculated from their histologic placental slides. A simple linear regression model was tested with newborn nucleated RBC counts as the dependent variable and calculated placental nucleated RBC counts as the independent variable., Results: The mean +/- standard deviation newborn nucleated RBC count was 4.81 x 10(9) +/- 5.46 x 10(9)/L compared with 1.37 x 10(9) +/- 1.78 x 10(9)/L calculated from placental sections. These data were normalized by logarithmic transformation. A significant linear regression was obtained, r(2) = 0.74, P <.001. The prediction equation obtained was natural logarithm (newborn nucleated RBC count) is equal to 1.002 x natural logarithm (placental nucleated RBC count) + 1.173., Conclusion: It is feasible to calculate nucleated RBC counts from histologic slides of the placenta that are predictive of newborn nucleated RBC counts. Further work on more homogeneous groups of subjects is necessary to increase the precision of the method. The placenta could serve as a surrogate source for newborn whole blood nucleated RBC counts around the time of birth.