Phrenic nerve palsy and Parsonage-Turner syndrome

This report describes 2 symptomatic patients with phrenic nerve palsy due to Parsonage-Turner syndrome who were managed by diaphragmatic plication. The characteristics of the underlying syndrome are defined.     

Pure red cell aplasia secondary to treatment with erythropoietin

Pure red cell aplasia (PRCA) is a rare condition defined as severe anemia secondary to the virtual absence of red blood cell precursors in the bone marrow. In the setting of patients treated with rHuEPO, the disease is generated by epoetin-induced antibodies that neutralise all the exogenous rHuEPO and cross-react with endogenous erythropoietin. As a result, serum erythropoietin levels are undetectable and erythropoiesis becomes ineffective. Only 4 cases of PRCA associated with rh-EPO have been reported before 1998. Thereafter, a sharp increase in the incidence of this rare condition has been reported, mainly associated with epoetin alpha use outside the United States. A number of possible mechanisms leading to PRCA development have been identified. Among these, modification of drug formulation and down stream processing probably has had a major role. Indeed, in 1998 the formulation of epoetin alpha in Europe was modified because of the fear of the "mad cow" syndrome. However, differences in molecule structure and glycosylation among different epoetins can not be excluded. It should also be underlined that the rise in the incidence of PRCA cases has been coincident with a major shift from intravenous to subcutaneous administration of rHuEPO. The abrupt rise in the incidence of PRCA cases observed in the last few years, deserves particular attention; however, we have to balance its severity, but extreme rarity, with the high number of chronic kidney disease patients who die each year because of cardiovascular disease that could partially be reduced by anemia treatment.     

Thymoma Associated with Hypogammaglobulinemia (Good's Syndrome): Report of a Case

A 63-year-old man was admitted to our hospital for treatment of hypogammaglobulinemia with thymoma (Good's syndrome). Tests for immunological function showed an abnormality in humoral immunity with decreases in the proportion of cells bearing B-cell markers in the peripheral blood and bone marrow. The patient was found to have Campylobacter fetus sepsis caused by the hypogammaglobulinemia due to humoral immunodeficiency, and he was given γ-globulin supplement. Thymectomy was performed due to enlarge-ment of the thymoma after 4 years of follow-up and the pathological diagnosis was thymoma of the nonencapsulated, epithelial spindle cell type. Although there was no recurrence of thymoma, the hypogammaglobulinemia remained unchanged and the patient continued to suffer from repeated infections. Thus, we describe the case of a patient with Good's syndrome associated with independent humoral immunodeficiency in whom the effect of thymectomy for hypogammaglobulinemia was negative. In this respect, thymectomy was only beneficial when the thymoma proliferated and seemed to be more threatening than the hypogammaglobulinemia for the patient. Received: May 14, 2001 / Accepted: September 11, 2001     

Palliative surgery for malignant mediastinal tumor invading the superior vena cava and right atrium

Intra-atrial extension of a superior vena cava (SVC) tumor is rare and it is associated with high mortality rates. An 80-year-old woman presented with malignant mediastinal tumor invading the superior vena cava and right atrium. The unresectable tumor caused uncontrolled SVC syndrome and led to the risk of pulmonary artery tumor thrombosis. Palliative surgery for the intracaval and atrial tumor was performed. Presently, 6 months after surgery, the patient remains free from SVC syndrome and has received effective adjuvant chemotherapy to reduce the size of the tumor.     

Antiepoetin antibody-related pure red cell aplasia: successful remission with cessation of recombinant erythropoietin alone

An elderly patient with pure red cell aplasia (PRCA) with antierythropoietin (anti-EPO) antibodies is described. PRCA due to alloimmunization is a rare and severe complication of recombinant human erythropoietin (rHu-EPO) therapy. Most reported patients with PRCA were cured primarily by immunosuppressive drug therapy. The patient in this case, however, did not want to receive any immunosuppressive drugs. Therefore, rHu-EPO injection was simply discontinued, the severe anemia gradually improved, and the hemoglobin approached normal range. This case is very rare and significant in that there have been few such elderly patients with rHu-EPO-induced PRCA in whom PRCA remission was achieved, with decreasing antibody titers, after cessation of rHu-EPO alone. Further cases are needed to assess how PRCA should be treated in patients with anti-EPO antibodies.     

Good syndrome coexisting with leukopenia

A 61-year-old man was admitted to our hospital for further examinations of a mediastinal mass. He had underwent an extended thymothymectomy, and had a tumor that was diagnosed as a type B1 thymoma, according to the World Health Organization. One year after surgery he was admitted again for recurrent diarrhea and pneumonia. Laboratory data revealed severe hypogammaglobulinemia with leukopenia. He was diagnosed with Good syndrome with leukopenia. Regular gamma globulin and figrastim injections were successful in keeping the patient symptom free. The prognosis of patients with Good syndrome and leukopenia is very poor; therefore, immediate diagnosis is important. The development of infectious diseases in a patient with thymoma or after the resection of thymoma mandates early and comprehensive immunologic investigation.     

Double-valve replacement for Scheie's syndrome subtype mucopolysaccaridosis type 1-S

Scheie's syndrome is a rare hereditary disorder of proteoglycan-degrading enzymes. Deposition of mucopolysaccharide can cause valvular and other tissue abnormalities. Few studies have reported surgical results for Scheie's syndrome, and the perioperative course is complicated. This is a report of a 35-year-old woman with Scheie's syndrome who underwent double-valve replacement with intensive perioperative management.     

Orthodeoxia-platypnea syndrome presenting as paradoxical peripheral embolism

A paradoxical embolus associated with orthodeoxia-platypnea syndrome and intracardiac shunting is extremely uncommon. We present a patient who was found to have a positional change in desaturation after a right pneumonectomy who suffered from gangrene of the right foot and simultaneous deep venous thrombosis of the left arm. Workup revealed a patent foramen ovale as a cause for both the right-to-left shunt and the paradoxical emboli. After percutaneous closure the orthodeoxia resolved. This case highlights the necessity of heightened awareness of this syndrome in case of severe hypoxemia after pneumonectomy and the importance of an occult patent foramen ovale.     

Poland syndrome associated with ipsilateral lipoma and dextrocardia

A 22-year-old man was admitted with a rapidly enlarging soft mass on the left chest wall, which was diagnosed as lipoma by postoperative pathology. A chest roentgenogram revealed a defect of the fourth rib, scoliosis, dextrocardia, and diaphragmatic hernia. A computed tomographic scan showed maldevelopment of the pectoralis major and minor muscles. This is the first reported case of Poland syndrome with ipsilateral lipoma of the chest wall. Dextrocardia associated with Poland syndrome may be considered dextroposition, rather than a dextroinversion, and it may arise as a result of Poland syndrome.     

Takotsubo syndrome after mitral valve replacement for acute endocarditis

Takotsubo syndrome is characterized by transient and acute left ventricular dysfunction and apical ballooning, with electrocardiographic abnormalities, but without coronary disease. We report a case of Takotsubo syndrome occurring after emergent mitral valve replacement for acute infective endocarditis. The patient is a 66-year-old woman who regained complete recovery of left ventricular function.     

Resolution of protein-losing enteropathy and normalization of mesenteric Doppler flow with sildenafil after Fontan

A 9.5-year-old girl after Fontan procedure for hypoplastic left heart syndrome had recurrent protein-losing enteropathy (PLE) develop 2 months after partial catheter closure of the Fontan fenestration. Despite satisfactory hemodynamic measurements under general anesthesia, we postulated that she suffered from increased pulmonary vascular reactivity and commenced her on Sildenafil treatment. After 6 weeks of oral Sildenafil treatment, her serum albumin and the fecal alpha-1-antitrypsin levels normalized, and her exercise tolerance had increased. There was also an improvement of the mesenteric arterial flow patterns on Doppler studies. Sildenafil should be considered in the treatment of PLE after the Fontan procedure.     

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer

BACKGROUND: The genetic basis of susceptibility to prostate cancer (PRCA) remains elusive. Mutations in BRCA2 have been associated with increased prostate cancer risk and account for around 2% of young onset (<56 years) prostate cancer cases. PALB2 is a recently identified breast cancer susceptibility gene whose protein is closely associated with BRCA2 and is essential for BRCA2 anchorage to nuclear structures. This functional relationship made PALB2 a candidate PRCA susceptibility gene. METHODS: We sequenced PALB2 in probands from 95 PRCA families, 77 of which had two or more cases of early onset PRCA (age at diagnosis <55 years), and the remaining 18 had one case of early onset PRCA and five or more total cases of PRCA. RESULTS: Two previously unreported variants, K18R and V925L were identified, neither of which is in a known PALB2 functional domain and both of which are unlikely to be pathogenic. No truncating mutations were identified. CONCLUSIONS: These results indicate that deleterious PALB2 mutations are unlikely to play a significant role in hereditary prostate cancer.     

Spontaneous coronary artery dissection in Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a heterogeneous group of connective tissue disorders with type IV, the vascular subtype, behaving as the most severe largely due to spontaneous arterial aneurysm and dissection. In this case report we describe a spontaneous left anterior descending coronary artery dissection treated with coronary artery bypass graft in a patient with Ehlers-Danlos syndrome type IV.     

Pure red cell aplasia in a prostate cancer patient treated with leuprolide acetate and chlormadinone acetate

Abstract  Pure red cell aplasia (PRCA) is characterized by anemia with reticulocytopenia but with normal leukocyte and platelet counts, and a bone marrow with a selective absence of erythroid precursor cells. Drug-induced PRCA is a rare secondary form of PRCA, and is usually acute and fully reversible by the withdrawal of the causative drugs. We report a rare case of PRCA in a prostate cancer patient treated with combined androgen blockade (CAB) consisted of leuprolide acetate as a luteinizing hormone-releasing hormone agonist and chlormadinone acetate as an antiandrogen. This case demonstrated that these drugs could be a cause of PRCA, and suggests that regular close monitoring for anemia is needed in prostate cancer patients treated with these drugs.     

Thoracic outlet syndrome after the Nuss procedure for the correction of extreme pectus excavatum

Since the Nuss procedure was introduced in 1998, many complications have been reported, but not thoracic outlet syndrome. Here we report a 13-year-old boy with pectus excavatum who had thoracic outlet syndrome develop after a modified Nuss procedure. The major modification from the original technique was the use of an additional bar to resolve his long, asymmetric deformity. The patient showed clinical features of brachial plexus compression. The abrupt structural and spatial changes induced by the marked elevation of the upper depressed chest might have given rise to this condition. Thoracic outlet syndrome is a possible complication of the Nuss procedure.     

Successful treatment of a pure red cell aplasia patient following ABO-mismatched hematopoietic stem cell transplantation from a sibling donor with multiple sclerosis

Despite the importance of blood group compatibility in solid organ transplantation, the role of ABO antigens is less critical in hematopoietic stem cell transplantation (HSCT). However, ABO-mismatch HSCT can present specific conditions and challenges for the recipient. One of the possible consequences of ABO-mismatch HSCT is pure red cell aplasia (PRCA). Although there are different treatment strategies to manage PRCA, each may carry its own risk. Here, we report a patient who developed PRCA after ABO-mismatch allogeneic HSCT from her sibling with multiple sclerosis history. PRCA improved with tapering immunosuppressive agents. Although the patient developed manageable graft versus host disease (GVHD), she eventually recovered from both PRCA and GVHD.     

Repair of lacerated intrapericardial inferior vena cava after cardiac massage

We successfully undertook surgical treatment of intrapericardial laceration of the inferior vena cava caused by external cardiac massage in a patient with acute coronary syndrome. Injury to the inferior vena cava without blunt trauma is very rare, and diagnostic imaging does not show it clearly, making it difficult to diagnose. Rapid and accurate judgment and management are necessary, because the mortality due to this injury is very high.     

Hypoplastic left heart syndrome with valvular pulmonary stenosis: successful management with norwood staged reconstruction

The association of hypoplastic left heart syndrome with valvular pulmonary stenosis is rare and is not well-described in the literature. Here we describe the experience of Norwood stage one reconstruction in an infant with hypoplastic left heart syndrome and significant pulmonary stenosis. The baby was successful palliated and stage II reconstruction with a bidirectional Glenn shunt was also later performed. Even though this condition is considered a poor candidate for Norwood stage one reconstruction because of outflow obstruction, Norwood stage one reconstruction was used because neonatal transplantation is not a feasible option in Taiwan. This experience suggested that Norwood staged reconstruction is an option for this difficult condition.     

Surgical decompression for abdominal compartment syndrome after emergency cardiac surgery

Abdominal compartment syndrome typically occurs in patients after abdominal surgical procedures or trauma. Abdominal compartment syndrome is also increasingly described in conditions not related to abdominal operations, such as fluid resuscitation or burns. We report two patients who required surgical abdominal decompression for abdominal compartment syndrome that developed early after emergency coronary artery bypass graft surgery. No intraabdominal abnormalities were found at operation. Both patients had a protracted clinical course, but they survived and were discharged from the hospital.