Pancreatitis and sinusitis as presentations of Burkitt lymphoma are uncommon and rarely described in children. We describe here the case of a child who presented with symptoms suggestive of sinusitis unresponsive to antibiotics, with subsequent development of abdominal symptoms due to pancreatitis. He was eventually diagnosed with Burkitt lymphoma.
Pyruvate kinase (PK) deficiency is the commonest enzyme deficiency in the glycolytic pathway leading to hemolytic anemia secondary to decreased Adenosine Triphosphate (ATP) synthesis in the red cells. synthesis. PK deficiency due to mutations in the PKLR (1q21) gene leads to highly variable clinical presentation ranging from severe fetal anemia to well compensated anemia in adults. We describe dyserythropoiesis in the bone marrow of a child with transfusion dependent anemia and unilateral multicystic dysplastic kidney (MCDK) mimicking Congenital Dyserythropoietic Anemia type I (CDA type I). Persistently low erythrocyte PK levels and double heterozygous mutations present in the PKLR gene confirmed the diagnosis of PK deficiency.
Pelvic tumors in adolescent females are very uncommon. While the most common presentation is pelvic discomfort, we report the case of a 14-year-old female presenting with menorrhagia which is an unusual initial complaint for a large pelvic tumor. Adolescent females who present with heavy menstrual bleeding initially undergo assessment to rule out a bleeding disorder. In this case, careful history and physical examination helped in making a quick diagnosis and management. Ultrasound of abdomen showed a huge cystic mass due to serous cystadenoma of the ovary.
Background. Subcutaneous fat necrosis (SFN) is a form of transient panniculitis that presents commonly in infants with a history of perinatal insult, particularly hypothermia. It is characterized by subcutaneous nodules and plaques that appear over bony prominences on cheeks, shoulders, buttock, and thighs. SFN is usually associated with various complications including hypercalcemia, thrombocytopenia, hypertriglyceridemia, and hyperglycemia. Case Presentation. We present a unique case of a female infant with a history of maternal chorioamnionitis who presented with SFN at 11 days of life with thrombocytosis. The platelet count decreased during the hospital stay, and thrombocytosis resolved over the course of the next two weeks. She did not have any other hematological or metabolic abnormalities associated with SFN. Conclusion. Infants with perinatal stress are at increased risk of developing SFN during the first month of life. Infants with a diagnosis of SFN should be monitored closely for various hematological and metabolic abnormalities that can have serious consequences.
Atypical marginal zone hyperplasia (AMZH) is a recently described disease entity seen mainly in children. AMZH most commonly affects tonsils and appendices. Cutaneous AMZH is rare. The authors report here a recurrent AMZH in the lip of a 9-year-old child who presented originally with a lip swelling for approximately 3 months. The lip lesion recurred after each incomplete excision for 4 times. Pathologically, the lesion demonstrated marginal zone B-cell hyperplasia with kappa monoclonality by flow cytometry and immunohistochemistry studies. Lymphoepithelial lesions were noted with involvement of minor salivary glands. Polymerase chain reaction for immunoglobulin heavy-chain gene rearrangement has been repeatedly negative. Polymerase chain reaction for Borrelia species DNA was negative on both paraffin-embedded tissue and plasma. Serum antibodies IgG and IgM for Helicobacter Pylori were positive. A diagnosis of AMZH was made. Two courses of anti H. Pylori therapy did not improve the lip lesion, which completely regressed after a course of prednisone therapy. With differential diagnosis of cutaneous marginal zone lymphoma, the case illustrated diagnostic challenges, especially with recurrent lesions. This is the first case of recurrent cutaneous AMZH that has uncharacteristic kappa light-chain restriction. AMZH should be considered in children with mucocutaneous lesions with features of marginal zone lymphoma.
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