A Hispanic female patient with heartburn: A rare presentation of Paroxysmal Nocturnal Hemoglobinuria.

Paroxysmal nocturnal hemoglobinuria (PNH) is a non-malignant, acquired clonal hematopoietic stem cell disease that can present with bone marrow failure, hemolytic anemia, smooth muscle dystonias, and thrombosis. We present a case of a 32 year-old-female, G2P2A0 with no past medical history of any systemic illnesses who refers approximately 2 months of progressively worsening constant heartburn with associated abdominal discomfort. CBC showed leukopenia (WBC 2.9 x 103 /µL) with neutropenia (segmented neutrophils 48%), macrocytic anemia (Hgb 6.1 g/dL, hematocrit 20%, MCV,113 fL) and thrombocytopenia (platelet count 59 x 109/L). Abdomino-pelvic CT scan revealed a superior mesenterc vein thrombosis, which was treated initially with low-molecular-weight heparih for full anticoagulation. Peripheral blood flow cytometry assays revealed diminished expression of CD55 and CD59 on the erythrocytes, granulocytes and monocytes.' Paroxysmal nocturnal hemoglobinuria is a rare, clonal, hematopoietic stem-cell disorder whose manifestations are almost entirely explained by complement-mediated intravascular hemolysis. The natural history of PNH is highly variable, ranging from indolent to life-threatening. The median survival is 10 to 15 years, but with a wide range. Thrombosis is the leading cause of death, but others may die of complications of bone marrow failure, renal failure, myelodysplastic syndrome, and leukemia. Anticoagulation is only partially effective in preventing thrombosis in PNH; thus, thrombosis is an absolute indication for initiating treatment with Eculizumab. Nevertheless, bone marrow transplantation (BMT) is still the only curative therapy for PNH but is associated with significant morbidity and mortality.

Uncommon cause of life-threatening retroperitoneal hemorrhage in a healthy young Hispanic patient: splenic artery aneurysm rupture.

Splenic artery aneurysms (SAA) are a rare life threatening clinical diagnosis. We present a case of a young Hispanic woman with an aneurysm of the middle branch of the splenic artery and active leakage. The defect was embolized with complete resolution of the retroperitoneal bleeding. Physicians should be aware of this rare entity especially when female patients presents complainiing of severe epigastric pain with associated hypovolemic shock.

Bilateral large palpable cervical masses: not always a malignant or infectious process.

Madelung's disease is an extremely rare disorder of unknown etiology characterized by multiple, non-encapsulated, infiltrative lipomas located symmetrically on the trunk, neck, and proximal parts of the limbs. Approximately 200 patients have been reported in the medical literature. In this case report we present an extremely unusual case of multiple symmetric lipomatosis compatible with Madelung's disease.

A VERY RARE NEOPLASM IN AN IMMUNOCOMPETENT PATIENT.

Kaposi's sarcoma is a rare malignancy requiring infection with human Herpes virus for development. We report a case of a 76-year-old immunocompetent male with recurrent leg cellulitis. The cellulitis eventually developed into a non-healing ulcer and a palpable nodule consistent with nodular Kaposi's sarcoma.

An unexpected side-effect of a commonly used drug.

We report a case of a 68 year-old-female patient with clinical features of drug-induced lupus erythematosus after five years of treatment with amiodarone. She presented generalized skin rash, arthralgia on upper and lower extremities, associated with difficulty to walk. Remarkable laboratory results revealed a positive antinuclear antibody test and a skin rash biopsy showing a superficial and deep perivascular infiltrate of lymphocytes, histiocytes, and eosinophils. Once the etiology of the patient's symptoms was identified, the culprit drug was removed and she had a complete remission of all signs and symptoms. Early diagnose should be recognized for prompt intervention and avoid further complications associated with this rare side-effect.

Metastatic lymphoepithelioma to the orbit: an aggressive rare nasopharygeal tumor in a Hispanic patient.

A 64 year-old Hispanic male patient presented to our institution with a three-month history of frontal headaches, reduced vision, retroorbital pain, photophobia, sinus congestion, bloody nasal discharge, and decreased audition in the left ear. The diagnosis of metastatic lymphoepithelioma to the orbit was made based on clinical history, histopathological examination of an orbital biopsy, and imaging studies. Lymphoepithelioma rarely develops in Hispanic populations. However, it is endemic in certain areas, including North Africa, Southeast Asia. China and the far north hemisphere. Radiotherapy is th treatment of choice of localized lymphoepithelioma and concurrent chemotherapy-radiotherapy with neoadjuvant chemotherapy has been used in locally advanced metastatic settings.

No asthma, no parasites is a rare type of leukemia: chronic myeloid neoplasm with eosinophilia and abnormality of platelet-derived growth factor receptor alpha.

Chronic myeloid neoplasm with eosinophilia and abnormality of platelet-derived growth factor receptor alpha (PDGFRA), referred as chronic eosinophilic leukemia, is an extremely rare neoplasm where long-term prognosis is uncertain though a high grade of responsiveness to Imatinib has been reported. The mortality and morbidity associated with chronic eosinophilic leukemia is associated with the degree of tissue involvement, damage, or both at diagnosis. We discuss a case of a young male patient with past medical history of hypoglycemia that presented to the emergency room with a complaints of a sharp abdominal pain localized in the upper quadrants. Laboratories were remarkable for elevated white blood cells with eosinophils predominance, anemia and thrombocytopenia. Bone marrow biopsy dislocated a FIP1L1-PDGFRA fusion gene chronic eosinophilic leukemia. Physicians need to have a high index of suspicion of this rare entity since not all eosinophilias can be interpreted as asthma or parasitis infections.

Secondary biliary cirrhosis due to a rare choledochal cyst type II complicated with portal hypertension and pancytopenia in a young female patient.

Choledochal cyst type II, is an extremely rare cause of portal hypertension, severe pancytopenia in an adult patient, and a complication of long-standing disease. We present an uncommon cause of portal hypertension in a young female patient secondary to an obstructive choledochal cyst type II provoking massive splenomegaly and severe pancytopenia. A high level of clinical suspicion is important due to its high mortality rate if it remains undiagnosed. To our knowledge there are few publications describing this rare type of choledochal cyst in a Hispanic adult.

Paroxysmal nocturnal hemoglobinuria: a rare acquired hematologic disorder.

Paroxysmal nocturnal hemoglobinuria is a rare hematological disorder. It is an uncommon cause of intravascular hemolysis, thrombosis and bone marrow suppression. We report a 19-year-old female patient admitted to the hospital with pancytopenia. Workout of pancytopenia disclosed paroxysmal nocturnal hemoglobinuria. The patient responded well to treatment with blood transfusions, steroids and eculizumab. We discuss the underlying pathophysiology, clinical manifestations and treatment of this rare entity.

Primary angiosarcoma of the breast in a pre-menopausal woman.

This case report describes the clinical presentation, imaging findings and pathologic features of a rare aggressive breast tumor in a pre-menopausal woman, namely primary angiosarcoma. Recognition of this extremely rare entity is needed to make an early diagnosis, institute early therapy and eventually improve patient's survival.