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. High clinical suspicion and specific imaging characteristics can aid in the diagnosis. The management of pancreatic duplication cysts requires surgical excision or drainage procedures to alleviate symptoms and prevent associated complications such as recurrent pancreatitis, bleeding, bowel obstruction, or malignancy. Here we present a case of a gastric duplication cyst in communication with an accessory pancreatic lobe with special focus on the preoperative workup, intraoperative findings, and histopathologic examination. [Pediatr Ann. 2022;51(8):e324-e327.].

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. While prior cases reported either neuromuscular weakness or concurrent weakness and cardiomyopathy at onset, we describe the first case in which cardiomyopathy and cardiac transplantation (age eight) preceded neuromuscular weakness by several years (age 12). The phenotype comprised distal weakness and severe sensorimotor neuropathy. Nerve biopsy was primarily axonal with secondary demyelinating/remyelinating changes without "giant axons." Muscle biopsy showed extensive neuropathic changes that made myopathic changes difficult to interpret. Similar to previous cases, a p.Pro209Leu mutation in exon 3 of BAG3 was found. This case underlines the importance of evaluating for MFMs in patients with combined neuromuscular weakness and cardiomyopathy.

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. Few children with advanced stage disease have been described to date. We report two pediatric patients with high stage THRLBCL and highlight their clinical and pathological features.

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. This study of the International PHACE Syndrome Registry represents the largest central review of clinical, radiologic, and histopathologic data for cardiovascular anomalies in patients with PHACE to date. Sixty-two (41%) of 150 subjects had intracardiac, aortic arch, or brachiocephalic vessel anomalies. Aberrant origin of a subclavian artery was the most common cardiovascular anomaly (present in 31 (21%) of 150 subjects). Coarctation was the second most common anomaly, identified in 28 (19%) of 150 subjects, and can be missed clinically in patients with PHACE because of the frequent association of arch obstruction with aberrant subclavian origin. Twenty-three (37%) of 62 subjects with cardiovascular anomalies required procedural intervention. A greater percentage of hemangiomas were located on the left side of the head and neck in patients with coarctation (46% vs 39%); however, hemangioma distribution did not predict the presence of cardiovascular anomalies overall. In conclusion, PHACE is associated with a high risk of congenital heart disease. Cardiac and aortic arch imaging with detailed assessment of arch patency and brachiocephalic origins is essential for any patient suspected of having PHACE. Longitudinal investigation is needed to determine the long-term outcomes of cardiovascular anomalies in PHACE.

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. DESIGN: Case-control study performed from 2008 through 2012.Western blot analysis for pepsin and oil red O staining for lipid-laden macrophages (LLMs) was performed on bronchoalveolar lavage fluid specimens. SETTING: Tertiary referral center. PARTICIPANTS: Sixty-five patients (aged 4.5 months to 24 years) with chronic pulmonary disease, with or without tracheostomy, were compared with controls undergoing elective surgery who had no history of pulmonary disease. MAIN OUTCOMES AND MEASURES: Presence of pepsin and LLMs and quantity of LLMs in specimens. RESULTS: Seventy-six total patients participated: 34 patients who underwent bronchoscopy, 31 patients with tracheostomy, and 11 controls. Pepsin-positive bronchoalveolar lavage fluid specimens were identified in 25 patients who underwent bronchoscopy (74%) and 22 patients with tracheostomy (71%). All specimens from controls were negative for pepsin. Presence of LLMs was identified in specimens from 31 patients in the bronchoscopy group (91%), 16 patients in the tracheostomy group (52%), and 7 controls (64%), with a similar distribution of the quantity of LLMs in each lavage fluid specimen among the groups. CONCLUSIONS AND RELEVANCE: Patients with chronic pulmonary disease have a high prevalence of AERD, which may have important treatment implications. The presence of pepsin was a better predictor of AERD in patients with respiratory symptoms compared with controls than presence of LLMs. Detection of pepsin in bronchoalveolar lavage fluid specimens can serve as a biomarker for AERD and is potentially superior to the current method of measuring LLMs. Whereas there is a significant association between AERD and the presence of chronic respiratory symptoms, this study does not verify causation. Additional study investigating the mechanism of pepsin on the respiratory epithelium may further our understanding of the pathophysiologic characteristics of this association and provide additional management options for these patients.

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. We report 6 instances of CNS PTLD in children, 2 of which were limited to the CNS and were unsuspected before autopsy. In our autopsy series, PTLD was found outside the CNS in 4 out of 6 cases. Since CNS PTLD has a poor prognosis and the presentation can be subtle, unsuspected, and high grade, it is important to maintain a high index of suspicion and to perform imaging and brain biopsy whenever clinically appropriate. In the presence of leptomeningeal involvement, the diagnosis could be made by cerebral spinal fluid examination.

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.

SUMMARY: 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. Prolonged neutropenia and recurrent skin infections led to the discontinuation of gemcitabine. The mass stabilized after radiation therapy and has decreased in size in 15 months of follow-up. EBV has been demonstrated in most smooth muscle tumors associated with acquired immunodeficiency syndrome and other immunocompromised states. This is the first documented case of an EBV-positive intracranial leiomyosarcoma in a pediatric human immunodeficiency virus patient.

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. In 2 of the 50 probands (4%), nonsense mutations were identified. In 1 family the proband initially presented with HCM as a teenager, which progressed to dilated cardiomyopathy (DCM) and heart failure. Skeletal myopathy and WPW were also noted. The teenage sister of the proband is a carrier of the same LAMP2 mutation and has HCM without skeletal myopathy or WPW. The other proband presented with HCM, WPW, and skeletal myopathy as a teenager, whereas his carrier mother developed DCM during her 40s. Skeletal and cardiac muscle sections revealed the absence of LAMP-2 on immunohistochemical staining. CONCLUSIONS: LAMP2 mutations may account for a significant proportion of cases of HCM in children, especially when skeletal myopathy and/or WPW is present, suggesting that Danon disease is an underrecognized entity in the pediatric cardiology community.