Fetal and pediatric pathology (Fetal Pediatr Pathol)

Publications in this journal

• Article: Pathogenic Yersinia DNA in Intestinal Specimens of Pediatric Patients with Crohn's Disease.

  Sarah B Leu, Sarah Catherine Shulman, Charlotte Katherine Steelman, Laura W Lamps, Ozlem P Bulut, Carlos R Abramowsky, Benjamin D Gold, Sarah Szlam, Christina Stockwell, Jennifer Havens, Soha Kolta, Bahig M Shehata
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  ABSTRACT: Studies indicate a close relationship between Yersinia and Crohn's disease in adults. Our study tested 77 colonic specimens from children with Crohn's disease for the presence of Yersinia DNA using a validated polymerase chain reaction (PCR) assay. Control cases included specimens from 45 ulcerative colitis patients and 10 appendicitis patients. The presence of Yersinia in Crohn's specimens was significant compared to the control specimens (9% vs. 0%; p = 0.0055). While our study supports the medical literature, future studies are needed to determine if the relationship between Crohn's disease and Yersinia is an initiating or mediating factor in the pathogenesis of pediatric Crohn's disease.
  Fetal and pediatric pathology 04/2013;
• Article: A Novel Mutation in ABCC8 Gene in a Newborn with Congenital Hyperinsulinism -A Case Report.

  Nuran Uzunalic Ustün, Dilek Dilli, Ahmet Afsin Kundak, Nurullah Okumus, Derya Erdoğan, Sema Apaydın
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  ABSTRACT: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. The genetic basis of CHI includes a variety of defects in key genes regulating insulin secretion. Mutations in at least seven genes are found in 50% of cases. The most common forms of medically unresponsive CHI, which requires a near-total pancreatectomy are associated with autosomal recessive mutations in the ABCC8 and KCNJ11 genes encoding the two subunits of the pancreatic β-cell ATP-sensitive potassium channel. We report a neonate with CHI and have a novel homozygous splicing mutation in the ABCC8 gene.
  Fetal and pediatric pathology 04/2013;
• Article: A Case of Dichorionic Twin Pregnancy Concordant for Bilateral Cleft Lip and Palate and Discordant for Spina Bifida; Schisis Association.

  Mehmet S Kutuk, Mahmut Tuncay Ozgun, Semih Uludag, Hulya Akgun, Burhan Balta
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  ABSTRACT: Backround: The schisis theory suggests that neural tube defect (NTD), cleft lip and palate (CL/P), omphalocele and diaphragmatic hernia are associated to each other more frequently than at the expected random combination rates in a given fetus. However, it is unusual to see schisis-associated defects concordantly in dichorionic twin pregnancy with other schisis-associated and non-associated defects. In addition, the association of lower limb oligodactly with oral cleft and spina bifida has not been reported before. Case: A 24-year-old woman with twin gestation at 21 weeks was referred to our unit. At ultrasound examination, bilateral CL/P and single umbilical artery in male fetus, and bilateral CL/P and open lumbar spina bifida in female fetus were revealed. At autopsy, oligodactyly of both lower limbs was demonstrated in the female fetus. The parents had no family history of NTD and CL/P. There was no consanguinity, nor was the mother exposed to teratogens.
  Fetal and pediatric pathology 04/2013;
• Article: Fetal Autopsy of Meckel Gruber Syndrome -A Case Report.

  Chandrika Bolineni, Ezhil Arasi Nagamuthu, Neelaveni Neelala
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  ABSTRACT: Meckel Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post-axial polydactyly. One such rare case at 28 weeks of gestation was terminated and its case report with the phenotypic features, fetal autopsy and histo-pathological examination are discussed.
  Fetal and pediatric pathology 02/2013;
• Article: Epstein-Barr Virus Associated Smooth Muscle Tumors in Post Transplant Pediatric Patients Two Cases of Rare Locations, and Review of the Literature.

  Nancy Elawabdeh, Brent M Cone, Carlos R Abramowsky, David M Wrubel, Hans Grossniklaus, Joseph Walrath, Maaman Z Bashir, Bahig M Shehata
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  ABSTRACT: Epstein-Barr virus (EBV) may present few or no symptoms in immunocompetent individuals; however, in immunocompromised patients as in the case of AIDS and post-transplant patients, the virus occasionally stimulates neoplastic transformations. Epstein-Barr virus may play a role in the development of smooth muscle tumors (SMT). In the case of Epstein-Barr associated smooth muscle tumors (EBV+SMT), the virus is thought to be the leading factor to the tumorigenic pathway. We report two pediatric patients (6 and 13 years old) who underwent liver transplantation and developed EBV+SMT in the colon and orbit. These two cases represent rare locations for this kind of lesion.
  Fetal and pediatric pathology 02/2013;
• Article: Terminal Deletion 2q37.3 in a Patient with Klippel-Trenaunay-Weber Syndrome.

  Ileana Puiu, Alin Stoica, Simona Sosoi, Alexandra Puiu, Mihai Ioana, Florin Burada
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  ABSTRACT: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital disorder, characterized by capillary, venous and lymphatic vascular malformations in association with bone and soft tissue hypertrophy. We report a KTWS patient with extensive hemangiomatosis of the right lower limb, trunk and upper limbs; bone and soft tissue hypertrophy of upper limbs, scapular girdle and right lower limb; and muscle atrophy on left lower limb with marked body asymmetry, scoliosis and toe malformations. These pathological features are associated with moderate mental retardation, mild renal and hepatic abnormalities. We identified by array CGH (Comparative Genomic Hybridization) a submicroscopic deletion 2q37.3 that could be related to impaired cognitive function. To our knowledge this is the first reported 2q37.3 microdeletion in a patient with KTWS.
  Fetal and pediatric pathology 02/2013;
• Article: Gender and Associated Skeletal Abnormalities in Fetuses with Neural Tube Defects.

  Tanya Todorova Kitova, Emilia Karaslavova, Soumeya Siala Gaigi
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  ABSTRACT: Objective: To determine the association between gender and skeletal defects in fetuses with NTDs. Methods: 150 NTD fetuses have been examined in three years' course (01.2006-01.2009) in the Clinic of Fetopathology at the Center for Maternity and Neonatology, Tunis. Results: The most common gender associated anomalies for males are cleft palate, anomalies in the form and attachment of the outer ear and the agenesis of corpus callosum. For women, they are distortions of the spine and "frog" face. Conclusion: The proven associations in the study are important indicators in the purposeful search for NTDs in early prenatal ultrasound diagnosis.
  Fetal and pediatric pathology 02/2013;
• Article: Bronchogenic/Foregut Cyst of The Ileal Mesentery in a Child Mimicking Ovarian Mass.

  Troy A Markel, Jingmei Lin, Rong Fan, Deborah F Billmire
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  ABSTRACT: Intraabdominal bronchogenic cysts, a type of foregut cyst, are very rare. We report a case in a 12-year-old female who presented with severe abdominal pain and, in radiology workup, a cystic lesion that mimicked ovarian mass.
  Fetal and pediatric pathology 02/2013;
• Article: The Diagnostic Value of p27 in Comparison to p57 in Differentiation Between Different Gestational Trophoblastic Diseases.

  Asmaa Abdou, Mona Kandil, Moshira Abd El-Wahed, Mohammed Shabaan, Mona El-Sharkawy
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  ABSTRACT: The histologic features that permit the identification of complete mole (CM) and partial mole (PM) as well as hydropic abortion (HA) may be overlapping. The cyclin-dependent kinase inhibitor p57Kip2 protein (p57) has been included among the paternally imprinted genes in humans that commonly used for diagnosis of CM. P27 is one of the cell-cycle controlling molecules that may be involved in the proliferation, differentiation and oncogenesis of trophoblastic cells. The current study tried to test the diagnostic validity of several histopathological parameters together with p57 and p27 immunostaining in differentiation between different gestational trophoblastic diseases. The current study was carried out on 13 cases product of conception, 13 cases PM, 25 cases CM and 8 cases choriocarcinoma. Maximal villous diameter at 1.5 mm cut-off point was found to be the most reliable factor in discrimination between PM and product of conception followed by presence of villous cistern, p57 expression by extravillous cytotrophoblasts at 1.5% cut-off point and p27 expression by villous cytotrophoblasts at 25% cut-off point. P27 expression by stromal cells and total trophoblastic population at 7.5% cut-off point could discriminate between PM and CM. P57 and p27 are co-parallely expressed in non-molar as well as partial molar gestations, but they did not show this coordination in choriocarcinoma. This study demonstrated diagnostic values for several cut-off points for p57 and p27 in discrimination between different categories of gestational trophoblastic diseases. The co-expression of p27 and p57 by extravillous cytotrophoblasts and their positive correlation in non-molar gestations may indicate its suppressive role on the proliferation of these cells to provide them the capacity for differentiation and invasion.
  Fetal and pediatric pathology 02/2013;
• Article: Neonatal Toxicity Following Maternal Citalopram Treatment.

  Georgios Eleftheriou, Raffaella Butera, Federica Cotti Cottini, Maurizio Bonati, Marialuisa Farina
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  ABSTRACT: Late gestational exposure to citalopram, may be associated with a neonatal toxicity syndrome with immediate onset at birth or soon after birth and sometimes may be mistaken for neonatal withdrawal syndrome. A 3860 g infant was delivered at 40 weeks gestation. The mother had been taking citalopram 20 mg/day until the day of delivery. Fifteen minutes after birth, the baby became hypertonic. Neonatal serotonin toxicity due to citalopram seems the most likely mechanism, though an important differential diagnosis is a citalopram withdrawal syndrome. We suggest the hypothesis that neonatal withdrawal syndrome may follow citalopram serotonin toxicity.
  Fetal and pediatric pathology 02/2013;
• Article: The immune environment of paediatric solid malignancies: evidence from an immunohistochemical study of clinical cases.

  John R Apps, Fyeza Hasan, Oliver Campus, Sam Behjati, Thomas S Jacques, Neil J Sebire, John Anderson
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  ABSTRACT: Childhood malignancies are relatively poorly studied in terms of tumour/host interaction. Using tissue arrays of childhood cancers, we analysed immunohistochemical staining for CD68, CD3 and FOXP3 to evaluate infiltration of myeloid cells, lymphocytes and regulatory T cells. Staining for phosphorylated STAT3 was performed in a subset. The majority of paediatric tumours demonstrated a marked infiltration of CD68+ myeloid cells but, with the exception of neuroblastoma, most showed only sparse infiltration of CD3+/ FOXP3- cells. There was evidence for activation of STAT3 in pPNET (50%), ependymoma (45%) and undifferentiated sarcoma (38%), but it was rarely activated in other tumours.
  Fetal and pediatric pathology 02/2013;
• Article: Prenatal Diagnosis of a Liver Cavernous Hemangioma.

  Halil Aslan, Ozlem Dural, Gokhan Yildirim, Deniz K Acar
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  ABSTRACT: Liver tumors seldom occur in the perinatal period. Hepatic hemangiomas are the most common tumors of the liver diagnosed during fetal and neonatal life. The diagnosis can be suspected antenatally by ultrasound and MR scan. The differential diagnosis is often challenging. While small hepatic hemangiomas are usually asymptomatic, large tumors can lead to complications such as high-output congestive heart failure, consumptive thrombocytopenic coagulopathy and hemorrhage after tumor rupture. We describe a case of hepatic hemangioma presenting as a solid abdominal mass with several cystic areas on an obstetric ultrasound and report on the contribition fetal MR imaging to the diagnosis.
  Fetal and pediatric pathology 02/2013;
• Article: An Unusual Case of Trisomy 18 Associated with Paucity of Bile Ducts.

  Zelal Kahramaner, Aydin Erdemir, Hese Cosar, Ebru Turkoglu, Sumer Sutcuoglu, Ozlem Turelik, Suheyla Cumurcu, Umit Bayol, Esra Ozer
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  ABSTRACT: A case of neonatal cholestasis associated with Trisomy 18 (Edward's syndrome) is presented. A 3-day-old boy was referred to our clinic due to respiratory distress, elevated serum direct bilirubin levels, a systolic heart murmur, growth restriction and micrognathia. Liver biopsy and chromosomal analysis revealed paucity of intrahepatic bile ducts and Trisomy 18. Extrahepatic biliary atresia was reported in only a few patients with Trisomy 18. To our knowledge, we described for the first time a patient with Trisomy 18 and neonatal cholestasis associated with paucity of interlobular bile ducts.
  Fetal and pediatric pathology 02/2013;
• Article: Caudal Appendage Derived from a Vestigial Remnant of the Tailgut.

  Yukihiro Tatekawa, Hiroaki Yamanaka, Toshimichi Hasegawa, Hiroshi Sonobe
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  ABSTRACT: The presence of smooth muscle at the basal portion of a caudal appendage is very rare. We report a 3-month-old girl in which a caudal appendage is associated with smooth muscle bundles at the perianal region. Immunohistochemistry was performed for NCAM (neural cell adhesion molecule) to identify smooth muscle. NCAM immunoreactivity was observed within the presumptive circular and/or longitudinal muscle layers of the muscularis propria. NCAM is expressed by smooth muscle during the early stages of human embryonic gut development, suggesting that the caudal appendage in the present case may be derived from a tailgut remnant.
  Fetal and pediatric pathology 02/2013;
• Article: Arterial ischemic stroke in children: 22 cases from southern Tunisia.

  Lamia Sfaihi, Sana Elloumi, Hela Fourati, Thouraya Kamoun, Zeineb Mnif, Mongia Hachicha
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  ABSTRACT: The aim of this study is to review the cases of arterial ischemic stroke (AIS) in children in our department to evaluate the clinical and neuroimaging features, the etiologies and the treatment. This study retrospectively reviewed the records of all children aged between 1 month and 16 years who were admitted from 2000 to 2010 for AIS in the pediatrics department of Hedi Chaker University hospital in Sfax, Tunisia. Twenty-two children were enrolled. The average age at stroke was 3 years and 2 months. Cardiac disease (27%) and moyamoya disease (18%) were the most common etiologies. Adverse outcome after childhood stroke includes death in 9%, recurrence in 18% and neurologic deficits in 45%.
  Fetal and pediatric pathology 01/2013;
• Article: Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.

  Adrienne Moul, Amanda Alladin, Cristina Navarrete, George Abdenour, Maria M Rodriguez
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  ABSTRACT: Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified. We present a patient with severe respiratory distress due to osteogenesis imperfecta simulating type II, born to a non-consanguineous couple with mixed African-American and African-Hispanic ethnicity. Cultured skin fibroblasts demonstrated compound heterozygosity for mutations in the LEPRE1 gene encoding prolyl 3-hydroxylase 1 confirming the diagnosis of autosomal recessive osteogenesis imperfecta type VIII, perinatal lethal type.
  Fetal and pediatric pathology 01/2013;
• Article: Recurrent low-grade astroblastoma with signet ring-like cells and high proliferative index.

  Jitendra Gordhanbhai Nasit, Priti Trivedi
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  ABSTRACT: Astroblastoma is a rare primary glial tumor of children and young adults. Radiologically astroblastoma presents as a large well-circumscribed supratentorial, solid-cystic heterogeneous mass. Histology shows perivascular pseudorosettes with hyalinization. Only a single case has been reported with signet-ring-like cell morphology. Signet-ring morphology in primary central nervous system tumors is exceedingly rare. Complete surgical resection is the recommended treatment. Prognosis of astroblastoma depends on the extent of resection and histology. The proliferative index may be a useful tool to define prognosis. We present a case of 10-year-old girl having recurrent low-grade astroblastoma with signet ring-like cells and high proliferative index.
  Fetal and pediatric pathology 01/2013;
• Article: Clinical and morphological features of serosal form of eosinophilic gastroenteritis in a retrospective study of 10 children.

  Xu Teng, Linfen Xu, Jie Wu, Mei Sun, Jing Guo, Zhiqin Mao
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  ABSTRACT: Background: Eosinophilic gastroenteritis (EG) is an increasingly recognized inflammatory disease characterized by gastrointestinal (GI) symptoms and eosinophilic infiltration of the GI tract. Serosal form is one subtype of EG. The aetiology and pathogenesis of EG are unknown and the diagnosis and treatment properly are difficult for physician. Methods: A retrospective study of 10 paediatric patients (mean age 10.8 years) was performed to review records of medical, endoscopic, ultrasonographic findings and histological features. Results: All the cases presented abdominal pain symptom in this study. Supra-umbilical pain was the main location of pain. The pain intensity of cases was from mild to moderate. Vomiting and diarrhoea may also be found. All the cases manifested as peripheral eosinophilia and eosinophilic ascites (EA) detected by ultrasonograph and ascetic fluid white cell differential count were analysed. Erythema was the predominate feature seen on endoscopy. Histologic examination showed patchy eosinophilic infiltration in the GI tract in all patients. Symptom remission within 1 week and ascites absorbed within 2-3 weeks in all the patients treated with steroids. Conclusion: Serosal form of EG affects paediatric patients as well as adults, which can be diagnosed early and correctly through realising the character of the disease. Histopathology is the gold standard for diagnosis. Corticosteroids are the first line therapy.
  Fetal and pediatric pathology 01/2013;