Gastric-Type Enteric Duplication Cyst Communicating with an Accessory Pancreatic Duct.

Enteric duplication cysts are rare congenital anomalies defined by the location along the gastrointestinal tract from which they communicate as well as the epithelial lining they contain. Enteric duplication cysts in communication with the pancreas are an even rarer subset that are often difficult to diagnose due to nonspecific presenting symptoms. In a pediatric patient with a history of recurrent pancreatitis episodes, a pancreatic duplication should be on the differential.

BAG3 myofibrillar myopathy presenting with cardiomyopathy.

Myofibrillar myopathies (MFMs) are a heterogeneous group of neuromuscular disorders distinguished by the pathological hallmark of myofibrillar dissolution. Most patients present in adulthood, but mutations in several genes including BCL2-associated athanogene 3 (BAG3) cause predominantly childhood-onset disease. BAG3-related MFM is particularly severe, featuring weakness, cardiomyopathy, neuropathy, and early lethality.

T-cell/histiocyte-rich large B-cell lymphoma in pediatric patients: an under-recognized entity?

T-cell/histiocyte-rich large B-cell lymphoma (THRLBCL) is a distinct subtype of diffuse large B-cell lymphoma (DLBCL) under-recognized in the pediatric population. A meticulous workup is necessary to avoid a misdiagnosis of nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) or classical Hodgkin lymphoma (HL). A strong degree of suspicion and an emphasis on immunohistochemical staining are required to reach the diagnosis.

Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry).

PHACE syndrome represents the association of large infantile hemangiomas of the head and neck with brain, cerebrovascular, cardiac, ocular, and ventral or midline defects. Cardiac and cerebrovascular anomalies are the most common extracutaneous features of PHACE, and they also constitute the greatest source of potential morbidity. Congenital heart disease in PHACE is incompletely described, and this study was conducted to better characterize its features.

Prevalence of pediatric aspiration-associated extraesophageal reflux disease.

Importance: The role of aspiration-associated extraesophageal reflux disease (AERD) in patients with chronic respiratory symptoms is not well defined. Identifying the frequency of AERD in these patients may provide guidance in their treatment.

Objective: To determine the prevalence of AERD in patients with chronic respiratory symptoms and to assess the utility of pepsin as a new marker for AERD.

Pathology of central nervous system posttransplant lymphoproliferative disorders: lessons from pediatric autopsies.

Posttransplant lymphoproliferative disorders (PTLD) involving the central nervous system (CNS) in children are uncommon and can prove diagnostically challenging. The clinical and imaging characteristics of CNS PTLD can overlap with those of infection, hemorrhage, and primary CNS tumors. Some cases of CNS PTLD remain clinically unsuspected and are diagnosed postmortem.

An unusual case of hydranencephaly presenting with an anterior midline cyst, a posterior calcified mass, cerebellar hypoplasia and occlusion of the posterior cerebral arteries.

We present an unusual case of severe hydranencephaly in a term infant who presented with the following additional unique features, which were discovered on CT, MRI and MR angiography examinations: (1) occlusion of the bilateral posterior cerebral arteries, (2) absence of the occipital lobes, (3) an ovoid calcified mass sitting on the inner table of the occipital bone, (4) severe cerebellar hypoplasia, (5) a dysmorphic cystic diencephalon, (6) a large anterior midline cyst just above the cribriform plate and (7) absence of the falx. These imaging findings were confirmed at autopsy.

Epstein-Barr virus-associated intracranial leiomyosarcoma in an HIV-positive adolescent.

A 17-year-old African American female with human immunodeficiency virus infection presented with an unresectable intracranial neoplasm with mass effect upon the brainstem. Stereotactic biopsy revealed an Epstein-Barr virus (EBV)-associated leiomyosarcoma. Radiation therapy and gemcitabine were used to shrink the mass with the aim to make it surgically resectable.

Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.

Background: Some patients with hypertrophic cardiomyopathy (HCM) or left ventricular hypertrophy also present with skeletal myopathy and Wolff-Parkinson-White (WPW) syndrome; mutations in the gene encoding the lysosome-associated protein-2 (LAMP-2) have been identified in these patients, suggesting that some of these patients have Danon disease. In this study we investigated the frequency of LAMP2 mutations in an unselected pediatric HCM population.

Methods And Results: LAMP2 was amplified from genomic DNA isolated from peripheral lymphocytes of 50 patients diagnosed with HCM and analyzed by direct DNA sequencing.