Fabiola Balarezo

Soft Tissue Perineuromas in Children: Report of Three Cases and Review of the Literature

Perineuromas (PN) are uncommon, slowly growing, usually benign tumors composed of well-differentiated perineural cells. Two variants are recognized: intraneural perineuromas and soft tissue perineuroma, which includes a sclerosing subset of tumors. They are usually reported in the adult population. We present three cases of soft tissue perineuromas in children. One was located in the deep soft tissue of the retroperitoneum in a 14-year-old girl, the second one in the left thumb of a 14-year-old boy, and the third one in the index finger of a 16-year-old boy. This report, which describes the clinicopathologic, immunohistochemical, and ultrastructural features of these tumors, should alert pathologists to the occurrence of perineuromas in children. A review of the English language literature on perineuromas in children is also included.

Proliferative and neoplastic disorders in children with acquired immunodeficiency syndrome.

Acquired immunodeficiency syndrome (AIDS) is a multisystem disease and, besides infections, various proliferative and neoplastic disorders are seen in cytology, biopsy, and autopsy specimens from infected children. These lesions can be classified into four types: systemic lymphoproliferation, smooth muscle tumors, Kaposi sarcoma (KS), and human papilloma (HPV)-related genital lesions. In addition, isolated cases of multiple miscellaneous tumors have been reported. Proliferative and neoplastic disorders are categorized as lesions of undetermined pathogenesis; however, there are certain factors that are suggested to be related to their pathogenesis. The symptoms related to them may be atypical or difficult to appreciate, and proliferative and neoplastic disorders may clinically mimic an opportunistic infection. The type and site of proliferative and neoplastic disorder also tends to be atypical as compared with those seen in nonHIV infected children. This is a brief but detailed review of these disorders in children with AIDS.

Characterizing the inflammatory response in esophageal mucosal biopsies in children with eosinophilic esophagitis

Eosinophilic esophagitis (EoE) is an emerging allergic, IgE‐ and non‐IgE (Th2 cell)‐mediated disease. There are major gaps in the understanding of the basic mechanisms that drive the persistence of EoE. We investigated whether esophageal biopsies from children with EoE demonstrate an inflammatory response that is distinct from normal controls. We prospectively enrolled 84 patients, of whom 77 were included in our analysis, aged 4–17 years (12.8±3.8 years; 81% males). Five esophageal biopsies were collected from each patient at the time of endoscopy. Intramucosal lymphocytes were isolated, phenotyped and stimulated with phorbol 12‐myristate 13‐acetate/ionomycin to measure their potential to produce cytokines via flow cytometry. We also performed cytokine arrays on 72‐h biopsy culture supernatants. CD8+ T cells, compared with CD4+ T cells, synthesized more TNF‐α and interferon (IFN)‐γ after mitogen stimulation in the EoE‐New/Active vs EoE‐Remission group (P=0.0098; P=0.02) and controls (P=0.0008; P=0.03). Culture supernatants taken from explant esophageal tissue contained 13 analytes that distinguished EoE‐New/Active from EoE‐Remission and Controls. Principal component analysis and cluster analysis based on these analytes distinctly separated EoE‐New/Active from EoE‐Remission and Controls. In summary, we have identified a previously unappreciated role for CD8+ T lymphocytes with potential to produce TNF‐α and IFN‐γ in EoE. Our results suggest that CD8+ T cells have a role in the persistence or progression of EoE. We have also identified a panel of analytes produced by intact esophageal biopsies that differentiates EoE‐New/Active from EoE‐Remission and controls. Our results suggest that esophageal epithelial cells may have specific immune effector functions in EoE that control the type and amplitude of inflammation.

Effect of gluten-free diet on growth and glycemic control in children with type 1 diabetes and asymptomatic celiac disease.

ABSTRACT We aimed to evaluate the effects of a gluten-free diet on growth and glycemic control in children with type 1 diabetes mellitus (DM) and asymptomatic, biopsyproven celiac disease (CD). Each case of CD was compared to two children with DM and no CD. We studied weight, height, and hemoglobin A1c (HgbA1c) up to 12 months pre- and post- CD diagnosis in 29 cases and 58 controls. The change in body mass index (ΔBMI Z-score) over 2 years was significantly higher in CD cases vs. controls (mean ± SD 0.33 ± 0.74 vs. -0.08 ± 0.46; p = 0.023). However, BMI Z-score did not change in CD patients diagnosed with DM for > 1 year. Mean HgbA1c was similar between groups throughout the study. In conclusion, children with asymptomatic CD and DM do not have significant changes in BMI, height Z-score or metabolic control 1 year post-diagnosis.

Primary renal synovial sarcoma in a 13-year-old boy

Primary renal synovial sarcoma is a rare entity with fewer than 40 cases reported in the literature. Its clinical presentation and radiographic features, namely, its often complex cystic appearance, make it difficult to differentiate from other benign or malignant renal lesions. Although there are certain consistent morphological and immunohistochemical features, diagnosis ultimately depends on molecular studies. Prognosis is poor, and there currently exists no defined treatment protocol. Herein, we describe the youngest reported case of primary renal synovial sarcoma in the literature.

Congenital subcostal hernia with unusual contents

Congenital hernias arising in the subcostal region are rare. We describe a case of a former preterm infant, born with congenitally fused right 11th and 12th ribs and a protuberant mass in the right subcostal region. This mass was associated with a small fascial defect and herniation of abdominal contents. At operation, the mass was determined to be a hernia with an incarcerated ovarian remnant and fallopian tube.

Rare congenital meningothelial hamartoma of the scalp with progressive growth

Scalp lesions are common pediatric findings that present for neurosurgical evaluation and management. The majority will be benign. Meningothelial hamartomas represent a rare subset of congenital cutaneous lesions with the potential for intracranial extension and microscopic infiltration of the surrounding tissues. The authors report in this paper a case of meningothelial hamartoma of the scalp that demonstrated serial growth and invasion of the scalp. The degree of microscopic involvement and growth necessitated close follow-up and repeat excision.