Left anterior descending artery disease in a 27-year-old with multiple endocrine neoplasia, type 2A: A case report.

Multiple endocrine neoplasia 2A is an autosomal dominant disease characterized by medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism. Coronary artery disease is associated with the disorder, but the mechanism is unclear. A 27-year-old female presented with chest pain and palpitations. A left heart catheterization was performed and showed 80% stenosis of the left anterior descending artery. Imaging and workup also revealed primary hyperparathyroidism associated with a parathyroid adenoma and elevated serum and urine metanephrines and norepinephrines. A computed tomography of the abdomen revealed a large heterogeneous right adrenal mass measuring 7.9 cm × 6.8 cm × 8 cm consistent with a pheochromocytoma. The patient subsequently underwent adrenal mass resection and a complete thyroidectomy and parathyroidectomy. Early recognition and treatment of multiple endocrine neoplasia 2A can possibly reduce the risk of lethal heart disease in addition to the other associated endocrine disturbances.

Oral and Lower Extremity Ulcers as the Initial Presentation of Granulomatosis with Polyangiitis.

Background: Granulomatosis with polyangiitis (GPA) is a small vessel vasculitis characterized by lung and kidney involvement. It is typically a disease of white females and has a poor prognosis with the average life expectancy of 5 months for a patient without treatment. Oral and skin ulcers are considered to be rare presentations. Case: A 39-year-old black male presented to the hospital with oral and skin ulcers and was diagnosed with GPA based on the biopsies of both cutaneous lesions and kidney. He was started on rituximab with minimal improvement. Later he was admitted to the ICU and had plasmapheresis, and he gradually improved and was discharged home 8 days after admission. Conclusion: GPA is an aggressive vascular disorder resulting in possible organ system damage and failure. The role of the sickle cell trait in this patient is undefined, but this combination of gender, race, and presenting symptoms in GPA is extremely unusual.

A Large Intrathoracic Hiatal Hernia as a Cause of Complete Heart Block.

Hiatal hernia is a not uncommon anatomic disorder resulting in portions of the bowel occupying space in the thoracic cavity. There are a number of antecedent risk factors including obesity but not hiatal hernias resulting in symptoms. When symptoms do occur, they can include chest pain, nausea, abdominal pain, and gastroesophageal reflux. Cardiac arrhythmias have also been reported as associated conditions resulting from a hiatal hernia. To date, however, a complete heart block secondary to a hiatal hernia has not been reported. An 88-year-old female with a history of GERD (gastroesophageal reflux disease) was found to have a large hiatal hernia at endoscopy after she presented to the emergency department with nausea and abdominal pain. Prior to her scheduled surgical repair, she developed symptomatic third degree heart block which resolved with nasogastric tube deflation of the gastric contents. After surgical repair of the hiatal hernia, she developed episodes of atrial fibrillation with rapid ventricular response and was started on diltiazem. She eventually converted back to normal sinus rhythm and remained dysrhythmia free. In addition to other known arrhythmias associated with hiatal hernia, a complete heart block can also be seen. Acute management requires deflation of the chest occupying hernia. This appears to be the one of the first reported cases of complete heart block caused by hiatal hernia.

Vaping-Induced Lung Injury: A Case of Lipoid Pneumonia Associated with E-Cigarettes Containing Cannabis.

Electronic cigarette, or vaping product use-associated lung injury (EVALI), is a group of lung disorders associated with vaping and e-cigarette products that has previously been categorized as a diagnosis of exclusion and best described as an exogenous lipoid pneumonia or chemical pneumonitis. Here, we describe the onset of an exogenous cause of lipoid pneumonia in an otherwise healthy patient using cannabis-containing electronic cigarettes. We explore similarities in the clinical case, define a common clinical presentation with progression of disease, characteristic radiographic findings along with pathological diagnosis and management.

Thrombocytopenia and endocarditis in a patient with Whipple's disease: case report.

BACKGROUND: Whipple's disease (WD) is a rare multisystem infectious disorder that is caused by the actinomycete Tropheryma whipplei. It presents with joint pain followed by abdominal pain, diarrhea, malabsorption and finally failure to thrive. Diagnosis requires tissue sampling and histology with periodic acid-Schiff [PAS] staining. Thrombocytopenia associated with endocarditis associated with WD has been reported twice. CASE PRESENTATION: A 56 year old Caucasian male presented with years of steroid treated joint pain and recent onset diarrhea, weight loss and abdominal pain. Ultimately he was found to have a platelet count of 4000 with concomitant endocarditis and embolic stroke. Small bowel biopsy confirmed the diagnosis of WD approximately 1 year after his first visit. His platelets improved with antibiotic treatment but he eventually expired 16 months after his initial consult and 5 months after his definitive diagnosis. CONCLUSION: WD can remain undiagnosed and untreated until late in the course of the illness. A high index of suspicion is recognized as necessary for early diagnosis to begin treatment. Critical thrombocytopenia associated with endocarditis is a rare and potentially poor prognostic sign in late stage Whipple's disease.

Full recovery from extreme hypernatremia in an elderly woman with hyperosmolar hyperglycemic syndrome and abnormal electroencephalogram.

BACKGROUND: Hyperosmolar hyperglycemic state is a life-threatening endocrine disorder that most commonly affects adults with type 2 diabetes mellitus. The condition results from an osmotic diuresis-induced loss of water exceeding that of sodium. Altered mental status, hypernatremia and hyperglycemia are characteristic features at presentation. Abnormal electroencephalogram findings have been reported. Successful therapy requires judicious fluid replacement and close monitoring. CASE: A 78-year-old Hispanic female with a significant past medical history of type 2 diabetes mellitus was admitted with altered mental status, severe hypernatremia and hyperglycemia. She was diagnosed with hyperosmolar hyperglycemic state, and fluid therapy was started. A continuous electroencephalogram revealed left frontocentral and temporal periodic lateralized epileptiform discharges that resolved as her hypernatremia and dehydration were treated. She survived and was discharged after 1 week of treatment. CONCLUSION: Abnormal electroencephalogram findings consistent with nonconvulsive seizure activity may be temporary and reversible and do not suggest a poor prognosis in an elderly patient suffering from hyperosmolar hyperglycemic state and altered mental status.

Clear-Cell Carcinoma of the Ovary with Bilateral Breast Metastases.

Ovarian clear-cell carcinoma is an uncommon subtype of epithelial ovarian carcinoma. It carries a generally poor prognosis because of its resistance to standard treatment and metastatic spread to vital organs. Metastasis to the breast is rare and bilateral breast metastasis is unreported. A 61-year-old white female with a 5-year status poststandard therapy for stage IC clear-cell ovarian carcinoma presented with widespread metastasis. Tissue analysis revealed ovarian cancer metastasis to the breasts bilaterally. Clinical awareness of this metastatic potential is important when staging and developing a treatment plan for patients with ovarian clear-cell cancer.

Hemophilia A Complicated by Ulcerative Colitis.

BACKGROUND: Hemophilia A is an X-linked recessive disorder characterized by defective synthesis of Factor VIII protein. Depending on the level of FVIII activity, patients may present with easy bruising, inadequate clotting of traumatic or mild injury, or in severe hemophilia, spontaneous hemorrhage. Ulcerative colitis (UC) is an inflammatory bowel disease (IBD) that is reported to have a decreased frequency of occurrence in subjects with coagulation disorders. CASE: A 26-year-old white male with Hemophilia A was admitted for one month of rectal bleeding. The bleeding continued despite Factor VIII replacement and colonoscopy and biopsy were performed confirming the presence of active UC. CONCLUSION: Ulcerative colitis with underlying F VIII deficiency can result in serious, prolonged, and possibly fatal bleeding if left unrecognized and untreated. Treatment of both conditions concurrently utilizing tertiary facilities and consultations appears to be the safest strategy for management.

Successful Treatment of Severe Type B Lactic Acidosis in a Patient with HIV/AIDS-Associated High-Grade NHL.

Type B lactic acidosis is a rare metabolic complication sometimes associated with hematologic malignancies. When present, this type of lactic acidosis is most commonly seen in patients with high-grade lymphomas or leukemias and is usually indicative of a dismal prognosis. We report a case of a 27-year man with acquired immunodeficiency syndrome (AIDS) that presented with bilateral lower extremity swelling, an abdominal mass, and weight loss. His lab values showed elevated anion gap with lactic acidosis and computed tomography (CT) of the abdomen showed a large soft-tissue mass arising from the left hepatic lobe. Biopsy of the abdominal mass demonstrated a high-grade diffuse large B-cell lymphoma. The patient's lactic acidosis resolved after starting chemotherapy, and a complete response was evident on PET-CT after a third cycle of rituximab, etoposide, prednisone, vincristine, cyclophosphamide, and doxorubicin (EPOC-RR). Care-givers should be aware of the implications of lactic acidosis associated with malignancy and the need for prompt diagnosis and treatment.

Novel Treatment of Small-Cell Neuroendocrine of the Vagina.

BACKGROUND: Primary vaginal small-cell neuroendocrine carcinoma is an extremely rare and highly aggressive malignancy. Eighty-five percent of patients die within one year of diagnosis from metastatic disease despite multimodal therapy. Gene expression profiling of tumor tissue may be useful for treatment options for various malignancies. CASE: A 34-year-old nulliparous woman was diagnosed with primary vaginal small-cell neuroendocrine carcinoma. Twenty weeks after the initial visit, she was diagnosed with recurrence and started on chemoradiation based on the results of gene expression profile of tumor tissue. She died 34 months after the initial visit and had a 14-month progression-free survival (PFS). CONCLUSION: Gene expression profile of tumor tissue in the management of primary vaginal small-cell neuroendocrine carcinoma may be helpful in extending progression-free survival.

Burkitt's lymphoma with placental invasion diagnosed at cesarean delivery: a case report.

BACKGROUND: Burkitt's lymphoma is a highly aggressive B cell non-Hodgkin lymphoma subtype. Its occurrence in pregnancy is rare and often results in a delayed diagnosis. The treatment plan and prognosis depend on a number of variables including the stage at diagnosis. CASE PRESENTATION: A 32 weeks pregnant, 34-year-old white woman presented with weeks of complaints that were similar to typical pregnancy symptoms. Laboratory and ultrasound findings suggested a pathologic process and during the workup non-reassuring fetal surveillance resulted in an emergency cesarean delivery. Biopsies were obtained that confirmed Burkitt's lymphoma. Placental histology revealed microscopic involvement. CONCLUSIONS: The placenta should be inspected for microscopic disease if Burkitt's lymphoma is suspected, even if a vaginal delivery occurs and the placenta is ordinarily discarded. Repetitive somatic complaints during pregnancy should not be assumed to be secondary to the normal symptoms of pregnancy.

Black Esophagus: A Rare Case of Acute Esophageal Necrosis Induced by Diabetic Ketoacidosis in a Young Adult Female.

BACKGROUND: Acute esophageal necrosis is an uncommon clinical disorder diagnosed on endoscopy as a black esophagus. It has a multifactorial etiology that probably represents a combination of poor nutritional status, gastric outlet obstruction, and ischemia secondary to hypoperfusion of the distal esophagus. It typically occurs in older males with comorbidities. CASE: A 37-year-old woman presented with diabetic ketoacidosis and hematemesis. At esophagogastroduodenoscopy acute esophageal necrosis was diagnosed. The treatment included fluid and electrolyte management, insulin, and a proton pump inhibitor. She improved and left the hospital on day 3. CONCLUSION: Diabetic ketoacidosis can result in a profound osmotic diuresis, fluid loss, and hypoperfusion of the distal esophagus. This condition can then lead to ischemic injury and acute esophageal necrosis. Awareness of the possibility of its presence in young women with hematemesis and poorly controlled diabetes is important since early identification with esophagogastroduodenoscopy is necessary to prevent serious postnecrotic complications.

Fat Embolism and Nonconvulsive Status Epilepticus.

Fat embolism syndrome (FES) typically occurs following orthopedic trauma and may present with altered mental status and even coma. Nonconvulsive status epilepticus is an electroclinical state associated with an altered level of consciousness but lacking convulsive motor activity and has been reported in fat embolism. The diagnosis is clinical and is treated with supportive care, antiepileptic therapy, and sedation. A 56-year-old male presented with altered mental status following internal fixation for an acute right femur fracture due to a motor vehicle accident 24 hours earlier. Continued neuromonitoring revealed nonconvulsive status epilepticus. Magnetic resonance imaging of the brain showed multiple bilateral acute cerebral infarcts with a specific pattern favoring the diagnosis of fat embolism syndrome. He was found to have a significant right to left intracardiac shunt on a transesophageal echocardiogram. He improved substantially over time with supportive therapy, was successfully extubated on day 6, and discharged to inpatient rehabilitation on postoperative day 15. Fat embolisms can result in a wide range of neurologic manifestations. Nonrefractory nonconvulsive status epilepticus that responds to antiepileptic drugs, sedation, and supportive therapy can have a favorable outcome. A high index of suspicion and early recognition reduces the chances of unnecessary interventions and may improve survival.

Rare Congenital Aberrant Left Superior Pulmonary Vein Discovered with Central Line Placement in a Patient with Critical Cardiorespiratory Collapse.

BACKGROUND: Partial anomalous pulmonary venous connection is a rare congenital vascular disorder that may be asymptomatic. Left-sided connections with the innominate vein are discovered infrequently and those without an atrial septal defect are extremely rare. CASE: A 66-year-old male was found to have an anomalous left pulmonary vein when a central venous catheter was inserted for management of hypoxemia. In addition to the connection with the left innominate vein an echocardiogram revealed no atrial septal defect. Computed tomography arteriography was used to define the anomaly. CONCLUSION: Left superior vein partial anomalous pulmonary venous connection with the left innominate vein was discovered incidentally on insertion of central venous catheter. The otherwise innocuous anomaly can become a significant variable when treating critical cardiopulmonary collapse.

Successful pregnancy after mucinous cystic neoplasm with invasive carcinoma of the pancreas in a patient with polycystic ovarian syndrome: a case report.

BACKGROUND: The incidence of invasive cancer within a mucinous cystic neoplasm of the pancreas varies between 6 and 36%. Polycystic ovarian syndrome is a disorder characterized by hyperandrogenism and anovulatory infertility. One surgical treatment that can restore endocrine balance and ovulation in polycystic ovarian syndrome is partial ovarian destruction. Successful pregnancies following preconception pancreaticoduodenectomies (Whipple procedures) and chemoradiation to treat pancreatic neoplasms have been reported rarely but none were diagnosed with pre-cancer polycystic ovarian syndrome-associated infertility. Gemcitabine is an antimetabolite drug used for the treatment of pancreatic cancer that can have profound detrimental effects on oogenesis and ovarian function. Whether the ovarian destructive property of gemcitabine could act as a method to restore ovulation potential in polycystic ovarian syndrome is unknown. CASE PRESENTATION: A 40-year-old white American woman with a history of pancreatic cancer treatment with a Whipple procedure and chemoradiation with gemcitabine had a successful pregnancy after years of pre-cancerous anovulatory infertility and polycystic ovarian syndrome. She received no fertility agents and delivered full term via a spontaneous vaginal delivery with no pregnancy complications. CONCLUSION: Gemcitabine treatment for pancreatic cancer may result in resumption of ovulation in women with polycystic ovarian syndrome and these women should be counseled accordingly.

Spontaneous uterine cornual rupture at 26 weeks' gestation in an interstitial heterotopic pregnancy following in vitro fertilization.

Interstitial implantation in a heterotopic pregnancy is extremely rare, and despite currently available diagnostic modalities, early identification of an interstitial ectopic pregnancy remains difficult. This report describes a case of spontaneous cornual rupture at 26 weeks' gestation in a woman with diamniotic dichorionic twins that resulted in live births. The patient had previously undergone laparoscopic bilateral salpingectomy, and the pregnancy was conceived with in vitro fertilization. Interstitial implantation in a heterotopic pregnancy can go unrecognized, resulting in increased maternal and infant morbidity and mortality. © 2015 Wiley Periodicals, Inc. J Clin Ultrasound 44:322-325, 2016.

Spontaneous Complete Uterine Rupture in a Nonlaboring, Early Third-trimester Uterus: Missed Diagnosis by Ultrasound.

Objective Describe potential consequences and remedy for not intermittently auscultating fetal heart tones during travel to the imaging department and misdiagnosing a ruptured uterus on ultrasound as a synechiae. Study Design Retrospective chart review of case. Results Spontaneous uterine rupture in pregnancy is a rare and catastrophic event. Fetal monitoring is an important component for diagnosis, but fetal heart auscultation is usually discontinued while the patient is receiving imaging. We present a ruptured uterus at 28 weeks with delayed diagnosis secondary to interrupted fetal heart tone auscultation and a misdiagnosis of a rupture as a synechiae resulting in a seriously compromised newborn at delivery. Conclusion Intermittent fetal heart tone auscultation is a possible method of monitoring when the patient is off continuous fetal monitoring.

Congenital acinar dysplasia: report of a case and review of literature.

Objective Describe a case of congenital acinar dysplasia and review the literature. Study Design Retrospective chart review and literature search. Results Congenital acinar dysplasia is a rare malformation of growth arrest of the lower respiratory tract resulting in critical respiratory insufficiency at birth. It is a form of pulmonary hypoplasia that is characterized by diffuse maldevelopment and derangement of the acinar and alveolar architecture of the lungs, resulting in the complete absence of gas exchanging units. The growth-arrested lung tissue resembles the pseudoglandular phase of 16 weeks' gestation. The etiology is unknown. It is diagnosed by exclusion of all other causes of pulmonary hypoplasia and a summation of clinical, imaging, and histopathologic findings. Conclusion There is no cure and clinical treatment is supportive until death of the infant. We present a case of congenital acinar dysplasia in a male infant who lived 20 days with intensive support.

Sonographic confirmation of the correct placement of a nasoenteral tube in a woman with hyperemesis gravidarum: case report.

Hyperemesis gravidarum is a serious systemic disorder of pregnant women characterized by intractable vomiting resulting in metabolic, biochemical, and hematologic changes. Enteral nutrition has been used successfully and has a lower complication rate than parenteral nutrition. Tube feeding requires location of the feeding tube tip before the infusion of nutritional substance is started. We report a case of assisted feeding tube tip location using real time sonography in a pregnant women treated for hyperemesis gravidarum. Sonographic examination may be used as an alternative to x-ray for the confirmation of feeding tube location in pregnant women and thus eliminate exposure of the fetus to ionizing radiation.