Dupilumab in adolescent eosinophilic esophagitis: Experience with fibrostenosis and eosinophilic gastrointestinal disease with esophageal involvement.

We evaluated patients aged 12-20 on dupilumab 300 mg weekly for treatment of eosinophilic esophagitis (EoE) who had ≥1 follow-up endoscopy at a tertiary care pediatric hospital (n = 18). Fifty percent had inflammatory EoE (n = 9), 22% had fibrostenotic EoE (n = 4), and 28% had non-EoE eosinophilic gastrointestinal disease (EGID) with esophageal involvement (n = 5). Ninety-four percent discontinued topical corticosteroids (TCS) 2-4 weeks after starting dupilumab.

Hypereosinophilic Syndrome with Pulmonary Involvement in Ulcerative Colitis.

Reactive eosinophilia is associated with inflammatory bowel disease and is more common in patients with ulcerative colitis (UC) compared with Crohn's disease. The prevalence rate of peripheral blood eosinophilia in patients with inflammatory bowel disease has been described to be as high as 30%-40% of patients in a pediatric study. The coexistence of hypereosinophilic syndrome (HES) and UC is uncommon.

Clinical utility of whole-genome DNA methylation profiling as a primary molecular diagnostic assay for central nervous system tumors-A prospective study and guidelines for clinical testing.

Background: Central nervous system (CNS) cancer is the 10th leading cause of cancer-associated deaths for adults, but the leading cause in pediatric patients and young adults. The variety and complexity of histologic subtypes can lead to diagnostic errors. DNA methylation is an epigenetic modification that provides a tumor type-specific signature that can be used for diagnosis.

ALK-positive histiocytosis: a new clinicopathologic spectrum highlighting neurologic involvement and responses to ALK inhibition.

ALK-positive histiocytosis is a rare subtype of histiocytic neoplasm first described in 2008 in 3 infants with multisystemic disease involving the liver and hematopoietic system. This entity has subsequently been documented in case reports and series to occupy a wider clinicopathologic spectrum with recurrent KIF5B-ALK fusions. The full clinicopathologic and molecular spectra of ALK-positive histiocytosis remain, however, poorly characterized.

Bone Marrow Suppression Associated With Celiac Disease in a 4-Year-Old Boy.

Celiac disease is an immune-mediated process against gluten, resulting in inflammation and villous atrophy of the duodenum. Symptoms of malabsorption characterize the classic presentation; however, abdominal pain, constipation, and nutritional deficiencies can also be seen. We present a case of a 4-year-old boy who was found to have celiac disease after presenting with diarrhea, abdominal pain, weight loss, and new-onset pancytopenia.

Liver failure and x-linked immunodeficiency type 47.

Patients with defects in the ATP6AP1 gene have rarely been described. ATP6AP1-related disorders are a subtype of CDG, which result in enzyme deficiencies affecting multiple organ systems ranging from mild to life-threatening. Of the 13 patients described, all had hepatopathy, but this is the first case to be successfully transplanted.

Multimodal Therapy Including Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy Can Result in Long-term Disease-free Survival in Pediatric Desmoplastic Small Round Cell Tumor With Extraperitoneal Disease.

Desmoplastic small round cell tumor is a rare sarcoma with 5-year overall survival of 15%. An 8-year-old female presented with diffuse abdominal/pelvic desmoplastic small round cell tumor including numerous liver metastasis. She underwent neoadjuvant chemotherapy followed by cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC).

Submucosal Supernumerary Smooth Muscle Coat: A Common Histologic Finding in Mowat-Wilson Syndrome With or Without Hirschsprung Disease.

Background: Mowat-Wilson syndrome (MWS) is a multiorgan system disorder caused by (zinc finger E-box-binding homeobox 2) mutations or deletions. One common manifestation is constipation, and approximately half of the patients have Hirschsprung disease (HSCR). In addition to classic histologic features of HSCR, an unusual supernumerary intestinal muscle coat was recently reported in a patient of MWS with HSCR.

Diffuse Midline Glioma With Osseous Metastases at Diagnosis: A Case Report.

Extraneural metastasis is extremely rare in pediatric patients with high-grade glioma and carries a grim prognosis. Detection of metastases at initial presentation is even rarer. A 15-year-old adolescent girl presented with paraplegia, urinary retention, and a constellation of systemic symptoms.

Ganglioglioma in a Survivor of Infantile Glioblastoma.

Congenital tumors account for 2% to 4% of all pediatric central nervous system tumors. Glioblastoma multiforme (GBM) represents a small subset of these tumors. Despite harboring histologic features similar to older patients, infants with GBM exhibit improved survival and respond more favorably to surgery and chemotherapy.

Spheno-Orbital Aneurysmal Bone Cyst in a 10-Month-Old Infant.

Background: Aneurysmal bone cysts are benign bone lesions affecting long bones and vertebrae; only 2%-6% have cranial involvement, and even fewer show sphenoid or intraorbital involvement. Gross total resection is the treatment of choice.

Case Description: A 10-month-old girl presented with unilateral proptosis and no neurologic deficits.

A model of TH17-associated ileal hyperplasia that requires both IL-17A and IFNγ to generate self-tolerance and prevent colitis.

Homeostasis in the ileum, which is commonly disrupted in patients with Crohn's disease, involves ongoing immune responses. To study how homeostatic processes of the ileum impact CD4T cell responses, we used TCR transgenic tools to breed mice that spontaneously produced CD4T cells reactive to an antigen expressed in the ileum. At an early age, the ilea of these mice exhibit crypt hyperplasia and accumulate increased numbers of T17 cells bearing non-transgenic clonotypes.

Expanding the Phenotype of ALK-positive Histiocytosis: A Report of 2 Cases.

ALK-positive histiocytosis is a recently described rare histiocytic proliferative disorder of early infancy. When infants present with anemia, thrombocytopenia, and hepatosplenomegaly, this entity should be included in the differential diagnosis along with hemophagocytic lymphohistiocytosis, metabolic/storage diseases, hematopoietic malignancies, and autoimmune thrombocytopenia. We report 2 new cases of ALK-positive histiocytosis, one with kidney involvement and the other with extensive bone marrow involvement in addition to an overt liver disease.

Successful Treatment of Invasive Conidiobolus Infection During Therapy for Acute Lymphoblastic Leukemia.

Invasive fungal infections are a serious cause of morbidity and mortality in patients with hematologic malignancies. Conidiobolus species are molds within the order Entomophthorales and may disseminate to become rapidly fatal in immunocompromised individuals. This species of fungal infections are often multidrug resistant (MDR) and present unique therapeutic challenges.

Herpes Simplex Virus Esophagitis in Immunocompetent Children: A Harbinger of Eosinophilic Esophagitis?

Herpes simplex virus (HSV) is a common cause of infectious esophagitis. The aim of this retrospective study is to identify comorbid and predisposing conditions and sequelae of HSV esophagitis in immunocompetent children. We reviewed 16 cases of HSV esophagitis diagnosed from January 1982 to March 2016.

Langerhans cell histiocytosis of the digestive tract identified on an upper gastrointestinal examination.

Langerhans cell histiocytosis (LCH) with involvement of the gastrointestinal tract is rare and typically identified in patients with systemic disease. We describe a 16-month-old girl who initially presented with bilious vomiting, failure to thrive and a rash. An upper gastrointestinal (GI) examination revealed loss of normal mucosal fold pattern and luminal narrowing within the duodenum, prompting endoscopic biopsy.

A Case of Necrotizing Epiglottitis Due to Nontoxigenic Corynebacterium diphtheriae.

Diphtheria is a rare cause of infection in highly vaccinated populations and may not be recognized by modern clinicians. Infections by nontoxigenic Corynebacterium diphtheriae are emerging. We report the first case of necrotizing epiglottitis secondary to nontoxigenic C diphtheriae.

Lingual hamartoma associated with a cleft palate in a newborn.

A hamartoma is a benign malformation of native tissue that may occur in any area of the body. Hamartoma of the tongue is a rare developmental lesion. We describe the case of a pendulant lingual hamartoma in a 2-day-old girl that had not been identified on prenatal ultrasonography.

Bronchogenic cyst in the intradiaphragmatic location.

Bronchogenic cysts are congenital foregut malformations thought to develop due to abnormal budding of tracheal diverticulumand proximal bronchial structures during embryologic development. The cyst is lined by ciliated pseudostratified columnar epithelium and the wall contains cartilage and layers of smooth muscle. These lesions most commonly are seen in the mediastinum, lung, or pleural spaces.

Fetal lung interstitial tumor (FLIT): A proposed newly recognized lung tumor of infancy to be differentiated from cystic pleuropulmonary blastoma and other developmental pulmonary lesions.

The differential diagnosis of congenital lung lesions includes a variety of pulmonary malformations, and uncommon or rare neoplasms such as the pleuropulmonary blastoma (PPB) and congenital peribronchial myofibroblastic tumor (CPMT). Although most of the congenital lesions have a predominantly cystic appearance, the exceptions of a more solid process are the type 3 congenital cystic adenomatoid or pulmonary airway malformation (CCAM-CPAM) and the CPMT. The clinical and pathologic features of a unique solid or mixed solid/cystic lung mass composed of immature interstitial mesenchyme in association with irregular airspace-like structures mimicking abnormal incompletely developed lung are presented in this report of 10 infants (7 males, 3 females) whose tumor-like lesions were detected in the prenatal period to 3 months of age (median, 1-day old).