RESUMEN
We report a case of a 50-year-old female with diabetes mellitus who presented with progressive second, third, fifth, sixth, and eighth cranial nerve palsy. Diagnostic investigation revealed hyperglycemic state, and brain imaging showed a right cavernous sinus enhancement suggestive of and consistent with Tolosa-Hunt syndrome. The patient was started on steroids with tight glycemic control for eight weeks; subsequently, the cranial nerve palsies resolved as well as documented resolution of the right cavernous sinus enhancement.
RESUMEN
Hereditary Angioedema (HAE) is a rare autosomal dominant (AD) disease characterized by deficient (type 1) or nonfunctional (type 2) C1 inhibitor protein. The disorder is associated with episodes of angioedema of the face, larynx, lips, abdomen, or extremities. The angioedema is caused by the activation of the kallikrein-kinin system that leads to the release of vasoactive peptides, followed by edema, which in severe cases can be life threatening. The disease is usually not diagnosed until late adolescence and patients tend to have frequent episodes that can be severely impairing and have a high incidence of morbidity. Gastrointestinal involvement represents up to 80% of clinical presentations that are commonly confused with other gastrointestinal disorders such as appendicitis, cholecystitis, pancreatitis, and ischemic bower. We present a case of an HAE attack presenting as colonic intussusception managed conservatively with a C1 esterase inhibitor. Very few cases have been reported in the literature of HAE presentation in this manner, and there are no reports of any nonsurgical management of these cases.
RESUMEN
Double hit B-cell lymphomas are rare tumors that are defined by a chromosomal breakpoint affecting the MYC/8q24 locus in combination with another recurrent breakpoint, mainly a t(14;18)(q32;q21) involving BCL2. These tumors mostly occur in adults and carry a very poor prognosis. Double hit lymphomas can occur de novo, or arise from transformation of follicular lymphoma. We report a case of a 69-year-old female with abdominal distention and progressively worsening weakness over six months. Patient presented with severe hypercalcemia and multiple intra-abdominal/pelvic masses. Histopathology results of the abdominal mass were compatible with a double hit B-cell lymphoma. However, bone marrow biopsy results showed a low grade follicular lymphoma, thus suggesting peripheral transformation of follicular lymphoma to double hit B-cell lymphoma. Patient was transferred to a tertiary care center and was started on combination chemotherapy (EPOCH: doxorubicin, etoposide, vincristine, cyclophosphamide, and prednisone). Our paper highlights not only transformation of follicular lymphoma to double hit B-cell lymphoma and the challenges encountered in diagnosing and treating these aggressive tumors, but also the association of new onset/worsening hypercalcemia in such patients.
RESUMEN
Perivascular epithelioid cell tumors are rare mesenchymal tumors arising from histologically and immunohistochemically distinctive perivascular epithelioid cells that express both myogenic and melanocytic markers. These tumors are known to arise from different organs in the body and usually have an unpredictable clinical course. We report a case of a 49-year-old female who presented with diffuse abdominal pain, fever, chills, and nonbilious vomiting for a day. Work-up revealed a mesenteric mass measuring 13.5 × 7.7 × 9.5 cm, arising in the mesentery of the hepatic flexure, with adjacent gas suggestive of fistularization into the right colon. An exploratory laparotomy with resection of the mesenteric mass was performed, and the initial histopathology results were compatible with either an adenocarcinoma or a sarcoma; however, because of poor differentiation it was difficult to make a definitive diagnosis. However, final histopathology results revealed a malignant perivascular epithelioid cell tumor (with reservation that a S100 negative metastatic melanoma must be excluded clinically). Following surgery the patient was started on everolimus, an m-TOR inhibitor, and has shown good response to this medication.
RESUMEN
We report a case of a 53-year-old female who presented with chronic constipation and abdominal discomfort for six months. Her past surgical history was significant for a total abdominal hysterectomy with bilateral salpingooophorectomy, performed eight years ago, for uterine fibroids and endometriosis. Workup revealed a mass measuring 5 × 4.5 × 2 cm in the rectosigmoid colon. Patient underwent a low anterior resection and a fungating, centrally ulcerated rectosigmoid mass with a positive mesorectal margin was removed. Histopathology revealed a heterologous mixed mesodermal tumor (chondroid and osteoid elements). The epithelial component was compatible with a grade 2 endometrioid adenocarcinoma. Immunohistochemical stains were supportive, with positive expression for CK7 and ER, negative for CK20, and only very focally and weakly positive for both CDX2 and p63. Chromogranin, synaptophysin, and TTF-1 were negative. Following surgery, she was treated with five cycles of carboplatin (AUC 6) and paclitaxel (175 mg/m(2)), followed by irradiation. Twenty-six months later, patient continues to be asymptomatic and disease-free. Mixed müllerian mesodermal tumors mimicking colorectal cancer have been reported in the past. Our case highlights the rarity and the challenges encountered in diagnosing and treating these rare tumors.
RESUMEN
We report a case of a 66-year-old female who presented to the hospital with abdominal discomfort for 3 months. Work-up revealed a 2.4 cm mass in the right adrenal gland. A laparoscopic resection of the adrenal mass was performed and the histopathology was consistent with a pheochromocytoma. Patient was under active surveillance for 8 years, until she developed local recurrence in the right adrenal bed. A right adrenal bed resection and right nephrectomy were performed. Although the tumor margins were positive, none of the sampled lymph nodes (0/6) were positive for metastasis. Patient refused any adjuvant therapy, and was discharged on surveillance from the hospital. A year later, patient was found to have metastatic disease involving her spine, iliac bones, bilateral hips and right dome of the diaphragm. Patient was offered a metaiodobenzylguanidine scan, and positive subsequent treatment with radioactive iodine was discussed with her. However, she denied any further intervention and was made hospice.
RESUMEN
Cabozantinib, a tyrosine kinase inhibitor, was approved by the US Food and Drug Administration in November 2012, for the treatment of metastatic medullary thyroid carcinoma. Although side effects typically include stomatitis, palmar-plantar erythrodysesthesia syndrome, hypertension and diarrhea, most patients are able to tolerate the recommended dose of 140 mg daily. Surgical resection is the primary treatment for medullary thyroid carcinoma. Patients with metastatic disease, who are not candidates for surgery, are considered candidates for systemic therapy. However, systemic chemotherapy has a limited role in metastatic disease. Our paper highlights not only the malignant potential of a medullary thyroid carcinoma, but also the role of cabozantinib in patients with progressive metastatic disease. We report two cases of patients with progressive metastatic medullary thyroid carcinoma (involving lung, lymph nodes, liver, pancreas, brain and spine) who responded well to therapy with cabozantinib.
RESUMEN
Precursor T-cell lymphoblastic lymphoma (LBL) and T-cell acute lymphoblastic leukemia (ALL) are considered same disease with different clinical presentations. Clinically, a case is defined as lymphoma if there is a mass lesion in the mediastinum or elsewhere and < 25% blasts in the bone marrow. Whereas, bone marrow with > 25% blasts with or without mediastinal masses is classified as T-cell ALL. Mediastinal masses caused by T-cell LBL can lead to complications such as superior vena cava syndrome, tracheal obstruction, pericardial effusion and tamponade. We report an unusual case of a 25-year-old male with no significant past medical history, who presented with clinical features of cardiac tamponade. Work-up revealed a massive pericardial effusion and a mass arising in the anterosuperior mediastinum. Patient underwent an emergent subxiphoid pericardial window and approximately 1 L of hemopericardium was drained. Histopathology (pericardial tissue) and flow cytometry on the pericardial fluid were compatible with a precursor T-cell LBL. Although pericardial involvement by lymphoma/leukemia is a very rare complication, cases have been reported with both lymphoma and acute/chronic leukemia. Our paper highlights cardiac tamponade as one of the life-threatening complications associated with a precursor T-cell LBL.
RESUMEN
Prostate cancer is mostly known to metastasize to the bony skeleton. Soft tissue metastasis involving visceral organs such as the liver, lung and brain are unusual and rare manifestations of this cancer. However, with better treatment modalities and increased survival, the incidence of these unusual presentations, seems to have risen in the last few years. Prostate cancer is rarely known to metastasize to the orbit. Although cases of bony metastasis involving the orbit have been reported, soft tissue metastasis involving the orbit is a very rare presentation. Most soft tissue metastasis to the orbit involves the uveal tract, with prostate cancer being the most common primary cancer to metastasize to the iris (uveal tract). Our paper highlights a case of extraconal orbital soft tissue metastasis secondary to prostate cancer, an extremely rare presentation. Patient was started on combined androgen blockade therapy. Three-month repeat MRI orbit showed that the extraconal orbital mass had decreased in size significantly. His clinical symptoms have resolved at the time of this report. To our knowledge, this is the first reported case of its kind.
RESUMEN
We report a case of a 40-year-old female who presented with dyspeptic symptoms for six months. Upper GI endoscopy revealed a submucosal nodule in gastric antrum. Using "jumbo biopsy unroofing technique" we were able to get adequate tissue for analysis. Histopathology revealed a type III gastric carcinoid. Patient was treated with laparoscopic distal subtotal gastrectomy with Roux-en-Y reconstruction and partial omentectomy. Although there was no evidence of metastasis on initial presentation, eighteen months later, patient was found to have multiple metastatic lesions in her liver. Patient's lesions were treated with intra-arterial (hepatic artery) Yttrium-90.
RESUMEN
A 52-year-old male presented with tinnitus and fullness in left ear for one day. Workup revealed a white blood cell count of 685 × 10(3)/µL with marked increase in granulocyte series and myeloid precursors on peripheral smear. The initial impression was chronic myelogenous leukemia with hyperleukocytosis, and patient was started on hydration, hydroxyurea, and allopurinol. Patient tolerated bone marrow biopsy well but continued to bleed excessively from the biopsy site. Results confirmed Philadelphia chromosome positive chronic myelogenous leukemia (chronic phase). On day three of hospitalization, patient developed sudden slurred speech along with shaking movements involving extremities. Magnetic resonance imaging revealed multiple hemorrhages throughout the brain. Hydroxyurea was continued until insurance coverage for nilotinib was getting approved. On day nine of hospitalization, patient developed sudden bilateral sensorineural deafness. Repeat magnetic resonance imaging revealed multiple new hemorrhages throughout the brain. Computer tomography of the temporal bones showed inflammatory changes in right and left mastoid cells. Nilotinib was started on day eleven of hospitalization. Patient's white blood cell count continued to decrease, but there was no improvement in hearing. Four months later, patient was treated with bilateral transmastoid cochlear implants. This case highlights permanent deafness as a hemorrhagic complication secondary to chronic myelogenous leukemia.