Ectopic Fetal Liver Tissue in the Placenta of a Twin Pregnancy: A Case Report and Review of Literature.

Ectopic liver tissue represents a rare entity and is mostly attributed to events occurring during embryogenesis. Previous case reports documented the presence of fetal liver parenchyma within temporarily developed organs during pregnancy, such as the placenta or the umbilical cord. Moreover, the terminology of these benign findings varies from "ectopic liver" to "hepatocellular adenoma-like neoplasm" or "hepatocellular adenoma".

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy.

Methods: fCES was performed for 303 fetuses (183 ongoing and 120 ended pregnancies, in which chromosomal abnormalities had been excluded) using a trio/duo-based approach and a multistep variant analysis strategy.

Test Yourself-Question: Multiple facial skin lesions associated with gingival hypertrophy in a pair of siblings.

Two brothers, completely asymptomatic until their first year of life, started to complain from gingival hypertrophy, progressive development of painful soft tissue masses on the fingers and toes, on the face and on the scalp. There were no neurological symptoms or mental delay for both brothers.

A novel approach in the intraoperative management of ovotesticular DSD.

Ovotesticular disorder of sex development (OTD) management remains challenging. In OTD, cautious gonadal evaluation and separation of ovarian and testicular components might be required to avoid virilization of a patient with female identity. Herein we report our minimal invasive approach in this very rare condition.

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.

Congenital hydrocephalus is a potentially devastating, highly heterogeneous condition whose genetic subset remains incompletely known. We here report a consanguineous family where three fetuses presented with brain ventriculomegaly and limb contractures and shared a very rare homozygous variant of KIDINS220, consisting of an in-frame deletion of three amino acids adjacent to the fourth transmembrane domain. Fetal brain imaging and autopsy showed major ventriculomegaly, reduced brain mass, and with no histomorphologic abnormalities.

An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis.

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease. The diagnostic criteria of HHT, or Curaçao criteria, include the following: recurrent epistaxis or nighttime nose bleeding, mucocutaneous telangiectases, visceral arteriovenous malformation, or an appropriate family history. The diagnosis is classified as definite if three criteria are present, possible if two criteria are present, and unlikely if only one is present.

Lung histopathology of non-infectious pulmonary complications after allogeneic haematopoietic stem cell transplantation.

Aims: Non-infectious pulmonary complications (NIPCs) occur frequently following allogeneic haematopoietic stem cell transplantation (HSCT). As there is no consensus on the description of the related pulmonary pathological lesions, pathologist reports and clinical conclusions are largely inconsistent in routine practice. The aim of our study was to provide an accurate overview of post-allogeneic HSCT NIPCs from a large number of lung biopsies.

Postmortem microfocus computed tomography for early gestation fetuses: a validation study against conventional autopsy.

Background: Perinatal autopsy provides useful clinical information in up to 40% of cases. However, there is a substantial unmet clinical need with regards to postmortem investigation of early gestation fetal loss for parents for whom standard autopsy is either not available or not acceptable. Parents dislike the invasive nature of autopsy, but current clinical imaging techniques do not provide high-enough imaging resolution in small fetuses.

First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.

We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis. Besides vacuolated neurons, we found abundant deposition of polyglucosan bodies (PGBs) in the developing brain of this fetus in whom MPS-VII was corroborated by lysosomal beta-glucuronidase-deficiency detected in fetal blood and fetal skin-fibroblasts and by the presence of a heterozygous pathogenic variant in the gene in the mother. Fetal/neonatal metabolic disorders with PGB-deposition are extremely rare (particularly in relation to CNS involvement) and include almost exclusively subtypes of glycogenosis (types IV and VII).

Post-mortem whole-body magnetic resonance imaging of human fetuses: a comparison of 3-T vs. 1.5-T MR imaging with classical autopsy.

Objective: To prospectively compare diagnostic accuracy of fetal post-mortem whole-body MRI at 3-T vs. 1.5-T.

Pulmonary Myofibroblastic Tumour Involving the Pericardium and Left Atrium in an 18 Month Infant.

Inflammatory myofibroblastic tumor (IMT) is the most frequent primary lung tumor in children and it may be locally aggressive. The management of a locally advanced pulmonary IMT in an 18 month-old female child is presented.A left pulmonary mass was incidentally found on the computerized tomography (CT) scan of a child with persistent systemic inflammatory syndrome.

Diagnostic value of rectal suction biopsies using calretinin immunohistochemical staining in Hirschsprung's disease.

Background: The study investigates the diagnostic value of calretinin immunohistochemical staining (CIS) on rectal suction biopsies (RSB) in Hirschsprung's disease (HD).

Methods: A prospective study was conducted at Children's Hospital 2 in Ho Chi Minh City, Vietnam, from January through December 2015. Patients suspected of HD during this period underwent RSB and were followed in order to assess the accuracy of the diagnostic test with CIS compared with conventional histology (H&E).

Congenital hepatic haemangioma leading to multiple organ failure in a neonate.

We report a case of a premature male newborn who died from multiple organ failure due to a large congenital hepatic haemangioma that was diagnosed by imaging. Congenital haemangioma is a vascular tumour. The liver is the second organ involved after the skin.

Increased TGF-β: a drawback of tracheal occlusion in human and experimental congenital diaphragmatic hernia?

Survivors of severe congenital diaphragmatic hernia (CDH) present significant respiratory morbidity despite lung growth induced by fetal tracheal occlusion (TO). We hypothesized that the underlying mechanisms would involve changes in lung extracellular matrix and dysregulated transforming growth factor (TGF)-β pathway, a key player in lung development and repair. Pulmonary expression of TGF-β signaling components, downstream effectors, and extracellular matrix targets were evaluated in CDH neonates who died between birth and the first few weeks of life after prenatal conservative management or TO, and in rabbit pups that were prenatally randomized for surgical CDH and TO vs.

Parental acceptance of minimally invasive fetal and neonatal autopsy compared with conventional autopsy.

Objective: To determine parental acceptance of minimally invasive autopsy (MIA) involving postmortem imaging and organ tissue sampling compared with conventional autopsy and to compare the acceptability of percutaneous versus laparoscopic-guided biopsy.

Methods: Following termination of pregnancy parents were offered the option of traditional autopsy and subsequently interviewed about their acceptance of MIA. The McNemar test for paired samples was used to assess the difference in acceptance of MIA and conventional autopsy.

NF-κB activation and severity of gastritis in Helicobacter pylori-infected children and adults.

Background: In contrast to adults, Helicobacter pylori gastritis in children is reported as milder and ulcer disease as uncommon, but unequivocal data are lacking.

Objectives: To compare the frequency of gastro-duodenal ulcers in children and adults as well as the proportion of Helicobacter pylori infection in these patients and to study the effect of chronological age on NF-κB activation and on severity of gastritis.

Design: Patients referred in one pediatric and one adult facility for upper GI endoscopy were included.

Post-mortem high-field magnetic resonance imaging: effect or various factors.

Purpose: To evaluate image quality and diagnostic accuracy of high-field post-mortem (PM) magnetic resonance imaging (MRI) on fetuses below 20 weeks of gestation before and after the freeze-thaw process.

Materials And Methods: Nine fetuses were scanned with three different scanning procedures: "fresh", just after termination of pregnancy (TOP), "non-fresh short scan" and "non-fresh long scan" after being kept at -20 °C, followed by a conventional autopsy. The brain, thorax except the heart, heart and abdomen were studied.

Selective expression of a neuromodulatory cytokine (IL-2) in specific brainstem neurovegetative centers: a possible final common neuro-molecular pathway in dying patients.

Cytokines interact with neurotransmitters and modify neuronal and neuroimmune functions. Intense in situ neuronal IL-2 immunoreactivity was detected in vital human brainstem neuronal centers which are principally implicated in cardio-respiratory control mechanisms. These observations were made in critically-ill aging adult as well as in young infant patients dying from various clinico-pathological conditions.

Opsoclonus-myoclonus associated with celiac disease.

Celiac disease may be associated with various neurologic manifestations, most commonly cerebellar ataxia. This report describes a 2-year-old male who presented with opsoclonus-myoclonus syndrome including action myoclonus, palpebral flutter, opsoclonus, and ataxia. Given the severity of ataxia, the child was unable to sit or walk independently.

Achalasia of the cardia in Allgrove's (triple A) syndrome: histopathologic study of 10 cases.

Allgrove's syndrome, i.e., achalasia, addisonianism, alacrima (OMIM 231550) is an autosomal recessive disorder recently associated with the AAAS gene coding for the Aladin protein.

The evaluation by magnetic resonance imaging of hepatic periportal fibrosis in infants with neonatal cholestasis: preliminary report.

Purpose: The aim of this study was to evaluate the potential role of magnetic resonance (MR) imaging cholangiography for the assessment of periportal fibrosis associated with neonatal cholestasis.

Methods: The authors have compared the findings on MR imaging cholangiography and on pathology in 10 infants evaluated because of neonatal cholestasis. The series included 3 patients with biliary atresia (BA), 3 patients with choledocal cyst, 2 with a neonatal hepatitis, and 2 with an inspissated bile syndrome.