ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome.

Here we report a case of refractory macrocytic anemia with a spliceosomal point mutation involving the ZRSR2 gene in a child with Down syndrome (DS). Such mutations have been shown to cause refractory macrocytic anemia and myelodysplastic syndrome (MDS) in elderly individuals. We report the hematological indices of a child with DS and a ZRSR2 spliceosomal mutation. DS is known to produce macrocytic anemia but does not lead to transfusion dependence. In this case, the ZRSR2 mutation was the likely implicating factor for severe transfusion-dependent anemia in a child with DS. The clinical implication of a ZRSR2 mutation in a child with DS has not been previously described and warrants close surveillance to detect potential insidious transformation to MDS.

Primary Central Nervous System Lymphoma Presenting as Isolated Multiple Cranial Neuropathies: An Extremely Rare Case.

Primary central nervous system lymphoma (PCNSL) is an uncommon malignancy of B-cell origin that typically involves the brain, eyes, and spinal cord without systemic spread. PCNSL typically involves the cerebral hemispheres, basal ganglia, or periventricular region. Isolated leptomeningeal PCNSL without any evidence of parenchymal involvement is very rare. We present a very unusual case of PCNSL presenting as persistent bilateral Bell's palsy and trigeminal neuralgia with magnetic resonance imaging (MRI) brain showing significantly hypertrophied enhancing bilateral facial and trigeminal nerves.

Chronic Heel Pain Found to Be Diffuse Large B-cell Lymphoma of the Calcaneus.

Primary non-Hodgkin lymphoma of the bone is quite rare, accounting for less than 2% of all lymphomas in adults. We present a unique case of chronic left heel pain in a 34-year-old pregnant woman with a remote history of lower extremity trauma. Unresponsive to conservative treatment, advanced imaging showed an infiltrative soft tissue mass involving the calcaneus and surrounding soft tissues. Biopsy of the area confirmed the diagnosis of Stage I-AE diffuse large B-cell lymphoma. The patient underwent 20 localized radiation treatments to the left heel. Nine years after the diagnosis, the patient remains in remission without signs of disease recurrence. This case report demonstrates that atypical and less common causes of chronic heel pain should be considered in certain clinical scenarios, especially in those unresponsive to conservative treatment.

B-cell lymphoma-associated hemophagocytic lymphohistiocytosis: A case report.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition characterized by an exaggerated but dysregulated immune response resulting in hyperinflammation, with a potential for progression to multiple organ dysfunction and failure. Infectious diseases, inflammatory disorders, malignancies and immunodeficiency syndromes are known triggers of HLH in adults. The present study reported the case of a middle-aged man with HLH triggered by B-cell lymphoma who was successfully treated with dexamethasone; etoposide, prednisone, vincristine, cyclophosphamide, hydroxy-doxorubicin and rituximab chemotherapy; and multiple intrathecal methotrexate with a good outcome.

The utility of thromboelastography and tranexamic acid in plasminogen activator inhibitor deficiency during pregnancy: a rare case report.

: Complete plasminogen activator inhibitor-1 (PAI-1) deficiency is a very rare genetic disorder that is associated with an increased risk of bleeding diathesis. Patients with PAI-1 deficiency are also known to be at increased risk for massive postpartum hemorrhage. We discuss one such rare case of PAI-1 deficiency in a young pregnant patient at 22 weeks of gestation with history of prolonged bleeding. Tranexamic acid was administered for menorrhagia and resumed later for labor and continued into the postpartum period since antifibrinolytics have been the mainstay in the management of PAI-1 deficiency. The patient delivered a healthy infant at 39 weeks. As PAI-1 deficiency causes increased fibrinolysis, the patient's coagulation panel was monitored by performing serial thromboelastograms to monitor for any increase in fibrinolysis. We believe that thromboelastograms might be a useful tool in the monitoring and management of fibrinolytic conditions such as PAI-1 deficiency.

Atypical lymphoid hyperplasia in a patient undergoing tonsillectomy for severe obstructive sleep apnea.

Tonsillectomy is a common procedure in the pediatric population, with subsequent microscopic examination of the specimen for cancer and other rare diagnoses occurring routinely. A 17 year-old female with a history of autoimmune vasculitis underwent adenotonsillectomy for severe obstructive sleep apnea. Pathology demonstrated small, medium and large lymphocytes and plasma cells obscuring the lymphoid follicles and germinal centers, with few Epstein-Barr virus positive lymphocytes. Tingible body macrophages were seen in the vaguely nodular areas. This reactive histologic pattern represents an atypical lymphoproliferative disorder never before documented in tonsils. Histopathologic images will be shown.

First reported case of penile epithelial-myoepithelial carcinoma.

Epithelial-myoepithelial carcinoma (EMC) of the penis is a rare malignant tumor which has not previously been described in the literature. Genetic associations exist in EMC that could potentially help guide early diagnosis and treatment of this type of penile cancer. This serves as the first reported case of such cancer of the penis, and highlights the indolent course it takes to presentation, and the need for an appropriate histopathologic evaluation for the correct diagnosis.

EF Bart's Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia.

EF Bart's disease is a rare form of nontransfusion-dependant thalassemia (NTDT) due to the coinheritance of homozygous hemoglobin E (ß E/ß E) genotype with hemoglobin H disease. These individuals are routinely found to have thalassemia intermedia with moderate anemia, increased hemoglobin Bart's and hemoglobin F on electrophoresis. The contribution of hemoglobin F-inducing polymorphisms in this disease has not been described previously. Here, we describe the hematological profile in a young child with coinheritance of Gγ-XmnI and Aγ-globin gene polymorphisms in EF Bart's disease. Interestingly, in this rare form of NTDT, normal HbF and elevated HbA2 were noted.

Localized accumulation of kappa restricted Russell body-containing plasma cells in tonsil.

An abnormal clonal plasma cell proliferation with Russell bodies is rare in chronic inflammatory reactions in adult patients. We describe the first case of light chain restricted Russell body accumulation within germinal centers of lymphoid follicles of the tonsil in a child. This should not be confused with a neoplastic process.

Impact of Consensus Conference Review on Diagnostic Disagreements in the Evaluation of Cervical Biopsy Specimens.

OBJECTIVES: To determine the impact of consensus conferences on the frequency of discrepant cases in a surgical pathology practice. METHODS: The percentage of discrepancies in cases reviewed at a weekly consensus conference was calculated for the first and last months of a 13-month period. Both interrater agreement and agreement with the consensus diagnoses were assessed. A total of 309 diagnoses were performed for the first month and 518 for the last month. Both absolute and chance-corrected agreement were calculated for each period. RESULTS: Absolute agreement rate increased from 91.2% in the first month to 98.2% in the final month. Chance-corrected agreement increased from 0.80 in the first month to 0.97 in the final month. CONCLUSIONS: The consensus conference technique appears to be a useful method to reduce intradepartmental diagnostic discrepancies. Both absolute and chance-corrected agreement are improved by using consensus conferences.