Placental pathology in neonatal stroke.

Objective: Neonatal stroke is increasingly recognized, and risk factors have been identified. The placenta has been implicated as a potential contributor to neonatal stroke; however, pathology has not been previously described. This case series systematically evaluates prenatal, maternal, and neonatal risk factors and describes placental pathology in 12 cases of neonatal stroke.

Diagnostic utility of nestin expression in pediatric tumors in the region of the kidney.

Nestin is an intermediate filament that was first identified in neuroepithelial stem cells. During embryogenesis, nestin is expressed in a number of cell types, including neural crest cells and developing myocytes. We have recently shown that nestin is expressed in human podocytes and nephrogenic blastema.

Splenic hamartoma in a child in the era of PET-CT.

We present a case of a healthy 7-year-old female with an incidental finding of a growing splenic lesion, diagnosed as a splenic hamartoma after splenectomy. This case highlights the diagnostic challenge of splenic lesions and that the role of positron emission tomography/computerized tomography (PET/CT) in defining splenic lesions in the pediatric population remains to be defined.

Absence of the interstitial cells of Cajal in a child with chronic pseudoobstruction.

Absence or altered distribution of the interstitial cells of Cajal (ICCs) has been described in association with intestinal pseudoobstruction in adults. We report the first pediatric case with regional absence of ICCs in the distal small bowel and colon associated with intestinal pseudoobstruction. This report highlights that abnormalities of the ICCs in intestinal pseudoobstruction should be considered early in the diagnostic workup of children with intestinal pseudoobstruction.

MRI of the fetal eyes: morphologic and biometric assessment for abnormal development with ultrasonographic and clinicopathologic correlation.

Background: Currently ocular biometric measurements are defined by US and are measured from the orbital walls. These bony landmarks cannot be seen by MRI, and therefore these measurements cannot be directly applied.

Objective: To define measurements of normal growth of the fetal eyes using MRI.

The intermediate filament nestin is highly expressed in normal human podocytes and podocytes in glomerular disease.

The intermediate protein nestin is expressed in proliferating embryonic tissues and adult tissues undergoing repair. Recently this protein been identified in rodent podocytes. Its role in this cell is unknown, since podocytes are believed to be terminally differentiated and nondividing.

Collagenous colitis and eosinophilic gastritis in a 4-year old girl: a case report and review of the literature.

Unlabelled: Collagenous colitis (CC), a form of microscopic colitis, is characterized by a thick subepithelial collagen layer in the colon in the presence of chronic nonbloody watery diarrhoea and macroscopically normal-appearing colonic mucosa. Typically affecting elderly adults, CC is rare in children with only 12 cases previously reported in the literature. We report the case of a 4-year-old girl with CC associated with eosinophilic gastritis, which was clinically responsive to treatment with ketotifen, a benzocycloheptathiophene derivative, and H(1) class of antihistamine that stabilizes mast cells and potentially impairs eosinophil migration to target organs.

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.

The combination of pulmonary agenesis/dysgenesis/hypoplasia, microphthalmia/anophthalmia, and a diaphragmatic defect (agenesis or eventration) is a rare syndrome presumed to have an autosomal recessive mode of inheritance based on a report of affected siblings born to unaffected parents [Seller et al., 1996]. The condition is known as Spear syndrome and Matthew-Wood syndrome, although genetic heterogeneity cannot be ruled out.

Stage III cystic partially differentiated nephroblastoma recurring after nephrectomy and chemotherapy.

Cystic partially differentiated nephroblastoma (CPDN) has low malignant potential. We report a 1-year-old with stage III CPDN of the right kidney that recurred following radical nephrectomy and chemotherapy. There was evidence of tumor spillage pre-operatively and intra-operatively.

Prenatal detection of microtia by MRI in a fetus with trisomy 22.

Trisomy 22 is a rare chromosomal abnormality infrequently detected prenatally. External ear abnormalities, in particular microtia, are often associated with trisomy 22, but prenatal detection of microtia has not been reported in association with trisomy 22. We report a fetus with trisomy 22, with fetal MRI findings of microtia, craniofacial dysmorphism, and polygyria.

Multifocal lymphangioendotheliomatosis with thrombocytopenia.

Multifocal lymphangioendotheliomatosis with thrombocytopenia is an extremely rare disease. This condition manifests as diffuse congenital vascular lesions in the skin and gastrointestinal tract leading to severe gastrointestinal bleeding and thrombocytopenia. Histopathologic and immunohistochemical studies of vascular lesions demonstrate a lymphatic endothelial cell origin.

Second-trimester prediction of severe placental complications in women with combined elevations in alpha-fetoprotein and human chorionic gonadotrophin.

Objective: The purpose of this study was to determine the ability of uterine artery Doppler and placental ultrasound to identify adverse clinical outcomes attributable to severe placental dysfunction in women with second-trimester unexplained elevated maternal serum screening of alpha-fetoprotein and human chorionic gonadotropin.

Study Design: Fifty singleton pregnancies with elevated alpha-fetoprotein (3.5 multiples of median [range 2.

Fetal pericardial teratoma: presentation of two cases and review of literature.

We present the fetal ultrasound and echocardiographic findings and clinical outcome of two fetuses with intrapericardial teratoma encountered in our institution. In the first (diagnosed at 19 weeks of gestation) case there was elective termination of pregnancy; in the second case (diagnosed at 24 weeks), a pericardio-amniotic shunt was placed after reaccumulation of fluid following pericardiocentesis. We review the published experience of intrapericardial teratomas, focusing on the diagnosis, fetal echocardiographic findings, and outcome with and without prenatal intervention.

Association of the t(12;22)(q13;q12) EWS/ATF1 rearrangement with polyphenotypic round cell sarcoma of bone: a case report.

The t(12;22)(q13;q12) chromosomal rearrangement results in an EWS/ATF1 fusion transcript and is associated with clear cell sarcoma (CCS). CCS is an uncommon tumor arising in tendons and aponeuroses of the extremities and shows evidence of melanocytic differentiation at the light microscopic, immunohistochemical, and/or ultrastructural level. Only 5 cases have been reported to arise in bone, none of which had molecular confirmation of the diagnosis.

Cutaneous ganglioneuroma within a giant congenital nevus.

Cutaneous ganglioneuroma has only occasionally been reported in the literature. Cutaneous ganglioneuroma is seen even more rarely in association with a giant congenital nevus. Differential diagnosis includes malignancies, especially melanoma and metastatic neuroblastoma.

Developmental biology of the placenta and the origins of placental insufficiency.

Defects in all the trophoblast-differentiating pathways--endovascular, interstitial and chorionic villous--play a role in the pathogenesis of early-onset intra-uterine growth restriction (IUGR). There are two types of extravillous trophoblast: endovascular trophoblast, that forms the definitive placenta by occlusion of the spiral arteriole at the implantation site, and interstitial extravillous trophoblast, responsible for the anatomical erosion of the distal spiral arteriole and the secretion of angiogenic and vasodilator signals to improve uterine blood flow. Defective endovascular erosion may render the basal plate inadequate to meet the demands of the fetus.

Imatinib mesylate: an attractive alternative in young children with large, surgically challenging dermatofibrosarcoma protuberans.

To document the clinical activity of imatinib mesyalte in a child with a dermatofibrosarcoma protuberans (DFSP). An 18-month-old girl presented with a large extremity DFSP. As surgical resection would have caused unacceptable functional defects, imatinib mesylate was administered to induce tumor reduction and or stabilization.

Is surgery necessary for incidentally discovered adrenal masses in children?

Background: There are no guidelines that exist to direct the management of incidental adrenal masses (IAM) in children. The aim of this study was to determine if there is a subset of IAMs that could be safely observed.

Methods: A retrospective analysis was conducted of all adrenal masses that were either resected or biopsied between 1990 and 2002 (n = 91) at the Hospital for Sick Children, Toronto.

Retroperitoneal infantile fibrosarcoma: clinical, molecular, and therapeutic aspects of an unusual tumor.

The authors describe a patient with a large retroperitoneal infantile fibrosarcoma that responded well to preoperative chemotherapy, which subsequently facilitated the complete surgical resection of the mass. The patient had an unusual site of metastasis presumed to be to a regional lymph node. The histology on initial core biopsies was not classic but showed a round cell, myxoid pattern.