Mechanical Hemolytic Anemia Associated With Mitral Valve Repair: A Case Report With Literature Review.

Hemolytic anemia could be caused by several conditions, depending on intrinsic or extrinsic defects of the erythrocyte. The latter group includes mechanical intravascular hemolysis, generally related to malfunctioning prosthetic heart valves or, rarely, heart valves repair. We describe a case of a child with Down syndrome, who developed hemolytic anemia after mitral valve repair. We observed that this condition is a rare complication in pediatrics, with only 7 cases reported in literature. Mechanical hemolysis should always be considered in the differential diagnosis of a new-onset hemolytic anemia, especially in patients with valvular heart disease, undergoing cardiac surgery.

Pediatric gray zone lymphoma according to the 2022 WHO classification: An Italian cohort study.

BACKGROUND: The 2022 World Health Organization (WHO) classification redefines the concept of gray zone lymphoma (GZL), restricting it in practice to cases of mediastinal/thymic origin (mediastinal gray zone lymphoma, MGZL) with overlapping features between primary mediastinal B-cell lymphoma (PMBCL) and classical Hodgkin lymphoma (CHL). Cases with histological characteristics of GZL but occurring without mediastinal involvement are better classified as diffuse large B-cell lymphoma, not otherwise specified (DLBCL NOS), with few exceptions. PROCEDURE: We collected clinical and pathological data about all Italian pediatric patients diagnosed with GZL over a 20-year period. RESULTS: We identified only four cases of bona fide MGZL. All patients were adolescent and presented with a mediastinal disease, always associated with other nodal involvement. B symptoms and increased levels of both erythrocyte sedimentation rate (ESR) and lactate dehydrogenase (LDH) were observed. Only two patients achieved a first complete remission, suggesting a more aggressive clinical behavior than either PMBCL or CHL. CONCLUSION: Prospective studies evaluating prognostic factors and establishing the most effective first-line therapy for MGZL are highly needed.

A novel NF1 mutation in a pediatric patient with renal artery aneurysm.

BACKGROUND: Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome, due to heterozygous pathogenic variants in NF1 gene. The main clinical manifestations are multiple café au lait spots, axillary and inguinal freckling, cutaneous and plexiform neurofibromas, optic glioma, Lisch nodules and osseous lesions, such as sphenoid and tibial dysplasia. Vasculopathy is another feature of NF1; it consists of stenosis, aneurysms, and arteriovenous malformations, frequently involving renal arteries. CASE PRESENTATION: We report on a 9-year-old girl with a novel mutation in NF1 gene and renal artery aneurysm, treated by coil embolization and complicated with hypertension. CONCLUSION: Vasculopathy is a complication of NF1, affecting from 0.4 to 6.4% of patients with NF1. Among the vascular abnormalities, renal artery aneurysm is a rare manifestation, with only a few cases regarding adult patients and no pediatric reports described in current literature. The finding of a vascular abnormality in a specific site requires the evaluation of the entire vascular system because multiple vessels could be involved at the same time.

Epstein-Barr virus-associated acute pancreatitis: a clinical report and review of literature.

BACKGROUND: Acute pancreatitis is a disorder of reversible inflammation of the pancreas. Only a few cases are related to infections and the most common pathogens are the viruses responsible for mumps, parotitis, and influenza. Epstein-Barr virus (EBV)-associated acute pancreatitis is a rare condition and it may occur in children and adults. CASE PRESENTATION: A 3-year-old female was admitted to the "G. Di Cristina" Children's Hospital in Palermo for vomiting and abdominal pain. Laboratory investigations revealed elevated amylase and lipase, with normal liver function tests. Abdominal ultrasound demonstrated an enlarged pancreas, with hypoechogenic areas; no biliary lithiasis was observed. Infectious disease serology was positive for the presence of EBV VCA IgM and IgG. A diagnosis of EBV-associated acute pancreatitis was made. The patient was treated conservatively and recovered. CONCLUSIONS: Acute pancreatitis is rarely associated with EBV infection; a review of the English literature revealed only 10 pediatric and 6 adult cases. Patients with pancreatitis should always be evaluated for EBV serology, even in the absence of the typical clinical and hematological features of infectious mononucleosis. For these patients, good prognosis is generally expected.

Extranodal Biphenotypic Non-Hodgkin Lymphoma of the Popliteal Cavity: A Case Report and Review of Literature.

Primary soft-tissue lymphoma (PSTL) is a rare extranodal non-Hodgkin lymphoma, characterized by a mass growing within soft-tissue, which is connective tissue, adipose tissue, and skeletal muscle. Here, we describe a case of biphenotypic lymphoblastic lymphoma arising from soft tissue of the popliteal fossa in an 11-year-old boy. A pediatric review about PSTL revealed that anaplastic large cell lymphoma is the most common histological type and a biphenotypic lymphoblastic lymphoma has not yet been reported in childhood. Lymphoma should always be considered in patients presenting with a soft-tissue mass, and a comprehensive immunohistochemical evaluation, including B-cell, T-cell, and myeloid markers, is needed to make a correct diagnosis and establish the most suitable treatment.

Duodenal hematoma in pediatric age: a rare case report.

In pediatric age, duodenal hematoma is rare and generally occurs following a closed abdominal trauma due to the crushing of the duodenum against the rigid plane of the spine; it rarely follows anticoagulant therapy, pancreatitis, bleeding disorders, vasculitis, tumors or upper digestive endoscopy. Duodenal hematoma is a rare cause of obstruction of the upper gastrointestinal tract and acute pancreatitis, and the diagnosis is sometimes difficult and late. On the other hand, the identification of the pathology in its initial stages allows the young patients to be subjected to a conservative treatment that resolves the issue most of the time, thus avoiding surgery. In this article we describe an unusual case of duodenal hematoma, following esophagus-gastro-duodenoscopy, in a 12-year-old boy with Di George syndrome.

Primary breast lymphoma of childhood: a case report and review of literature.

BACKGROUND: Primary breast lymphoma (PBL) is an extremely rare neoplasm in children; by definition, it manifests in the breast without evidence of lymphoma elsewhere, except ipsilateral axillary nodes. CASE PRESENTATION: We report a case of a 15-year-old girl diagnosed with diffuse large B-cell lymphoma (DLBCL) of the right breast: the patient received chemotherapy and rituximab, achieving complete remission. A literature review revealed other 11 cases of pediatric PBL; it mainly affects female adolescents and can involve right and left breast equally. Different histologic subtypes have been described, arising from both B-cell and T-cell. Therapeutic approaches were very different, from chemotherapy to local treatment with surgery and/or radiotherapy. CONCLUSIONS: Our case is the first in which rituximab was administered, suggesting to be a promising therapy in B-cell PBL, as already demonstrated in pediatric B-cell lymphoma from other sites. Further investigations are needed to identify prognostic factors and establish the most effective treatment.