Pulmonary lymphangiomyomatosis associated with tuberous sclerosis. Treatment with tamoxifen and tetracycline-pleurodesis

A 44-year-old woman was seen with the clinical and histologic picture of lymphangiomyomatosis syndrome. She also had dermatologic and neurologic stigmata of tuberous sclerosis. After the development of a recurring chylothorax, she had a downhill course unresponsive to dietary, bronchodilator, corticosteroid and progesterone therapy. In an open lung specimen, the search for steroid receptor for estrogen was positive. The discovery in this case of an estrogen receptor represents important evidence for establishing an association between tuberous sclerosis and lymphangiomyomatosis. Tamoxifen therapy and tetracycline pleurodesis were successful in stopping the progressive course and controlling the chylothorax.     

Intravenous immunoglobulin therapy for diabetic amyotrophy

A 49-year-old woman with diabetes mellitus developed progressive weakness and atrophy of both thighs rendering her wheelchair-bound within two months. The neurological findings and electrophysiological test results were compatible with diabetic amyotrophy (DA). Immediately after intravenous immunoglobulin (IVIg) therapy (20 g x 3 days), she became able to walk with a cane. After the next course of the therapy, she could walk without assistance. This dramatic effect of IVIg therapy together with the recent observation of vasculitic neuropathy in DA indicates an inflammatory process in this condition, and gives support to this treatment for DA.     

Fatal progressive hepatic necrosis associated with lamotrigine treatment: a case report and literature review

We present a case of fatal, progressive hepatotoxicity in a patient treated with lamotrigine. After presenting with a rash and fever, she developed elevated liver function tests and clinical sequelae of hepatic failure. The subacute course of her progressive liver damage is documented in serial liver biopsies. While her initial biopsy showed approximately 50% hepatocyte necrosis, her post mortem examination performed three weeks later displayed massive hepatic necrosis with extensive bile duct proliferation. Although she was taking other antipsychotics at the time, her clinical course best parallels other reports of lamotrigine-associated hepatotoxicity. Here we discuss not only the clinicopathologic findings of this case but also review the pertinent literature.     

Successful treatment of a case with rapidly progressive Bronchiolitis obliterans organizing pneumonia (BOOP) using cyclosporin A and corticosteroid

A 60-year-old woman was suffering from acute onset and progressive respiratory distress. Her radiographic findings showed bilateral volume loss in her lower lobes and consolidation predominantly distributed in peribronchovascular areas. The biopsied specimens performed by video-assisted thoracoscopic surgery revealed prominent fibromyxoid connective tissue within the terminal respiratory bronchioles and the alveolar spaces along the airways without marked interstitial fibrosis. No relevant cause was determined, and she was diagnosed as having idiopathic BOOP. Although her clinical course was fulminant with a poor reaction to steroid therapy, simultaneous administration of cyclosporin A and corticosteroid elicited a rapid improvement. This case report presents the effectiveness of cyclosporin A in the treatment of progressive BOOP.     

Progressive multifocal leukoencephalopathy following treatment with bendamustine and rituximab

A 66-year-old female developed progressive multifocal leukoencephalopathy (PML) 17?months after treatment with bendamustine and rituximab chemoimmunotherapy. During her evaluation for PML, she was found to have a CD4 count of 176?cells/μL (reference range 492-1740). The patient demonstrated spontaneous recovery of symptoms that occurred in parallel with recovery of the CD4 counts. While PML is associated with rituximab therapy, the timing and patients' clinical course are atypical, raising the possibility of a previously unreported association with bendamustine therapy.     

Fatal gastrointestinal histoplasmosis 15 years after orthotopic liver transplantation

We report a case of ileo-colonic Histoplasmosis without apparent respiratory involvement in a patient who had previously undergone an orthotopic liver transplant(OLT) for primary biliary cholangitis 15 years earlier. The recipient lived in the United Kingdom,a non-endemic region for Histoplasmosis. However,she had previously lived in rural southern Africa prior to her OLT. The patient presented with iron deficiency anaemia,diarrhoea,abdominal pain and progressive weight loss. She reported no previous foreign travel,however,it later became known that following her OLT she had been on holiday to rural southern Africa. On investigation,a mild granulomatous colitis primarily affecting the right colon was identified,that initially improved with mesalazine. Her symptoms worsened after 18 mo with progressive ulceration of her distal small bowel and right colon. Mycobacterial,Yersinia,cytomegalovirus and human immunodeficiency virus infections were excluded and the patient was treated with prednisolone for a working diagnosis of Crohn's disease. Despite some early symptom improvement following steroids,there was subsequent deterioration with the patient developing gram-negative sepsis and multi-organ failure,leading to her death. Post-mortem examination revealed that her ileo-colonic inflammation was caused by Histoplasmosis.     

Radiation retinopathy--a case report

Radiation retinopathy is one of ocular complications in radiation therapy for many diseases. It is a slowly progressive, delayed-onset disease of retinal blood vessels. A 49 year-old Chinese female suffered from blurred vision for 2 years progressively. The best corrected visual acuity was 0.02 and 0.06 in her right and left eyes respectively. Ophthalmic fundus examination showed hard exudate, retinal hemorrhage, and macular edema in both her eyes. Tracing back her history, she had nasopharyngeal carcinoma and received irradiation treatment 11 years ago. She denied diabetic mellitus or other systemic disease. After laser photocoagulation treatment, she had better vision with the best corrected visual acuity 0.2 and 0.3 in her right and left eyes respectively 1 year later.     

Spontaneous Gonadotrophin Deficiency Recovery in an Adult Patient with Langerhans Cell Histiocytosis (LCH)

Langerhans cell histocytosis (LCH) is a rare disease which exhibits a particular predilection for pituitary involvement leading to diabetes insipidus (DI) and other anterior pituitary hormonal deficiencies that are usually permanent and unresponsive to treatment. We report a 35 year old woman with a 10 year history of multisystemic LCH who developed DI, mild hyperprolactinemia, gonadotrophin and partial growth hormone deficiency following a normal delivery that was accompanied with infundibular thickening on pituitary magnetic resonance imaging (MRI). Following several courses of glucocorticoid administration, that were not associated with any substantial improvement, the patient was started on estrogen replacement therapy and cabergoline. After a three year period free of further relapses she developed irregular uterine bleeding. Following estrogen and cabergoline discontinuation she resumed normal menstruation while a repeated MRI of the pituitary showed an almost normal infundibulum. Endocrine investigation revealed normal gonadotrophin axis and prolactin levels, while the patient continues to menstruate, every 30–40 days, ten months after the resumption of her menstrual cycle. This case demonstrates for the first time that LCH induced pituitary deficiencies can run a variable clinical course and even spontaneously recover.     

Aortic valve replacement for aortic regurgitation in a patient with primary antiphospholipid syndrome.

A 42-year-old woman with the diagnosis of aortic regurgitation was admitted to hospital for surgical treatment. Ten years ago, primary antiphospholipid syndrome had been diagnosed, and she had a history of recurrent spontaneous abortions and deep vein thrombosis. She was suffering from moderate exertional dyspnea and chest pain. Catheter investigation revealed progressive dilatation of the left ventricle and a deterioration of the ejection fraction. The aortic valve was excised and replaced with a mechanical valve. A specimen of the aortic valve showed localized thickening and shrinkage of the midportion and base of each cusp, with vegetation on the surface. These localized, specific findings suggest that another mechanism may be involved in the cardiac valve pathology in patients with primary antiphospholipid syndrome. No hemostatic or thromboembolic problems were encountered after the surgery, and her postoperative course was uneventful.     

Cirrhosis as a consequence of graft-versus-host disease

A 28-yr-old woman with severe idiopathic aplastic anemia received an HLA-identical mixed lymphocyte culture nonreactive bone marrow transplant from her brother. In the months after successful engraftment, she developed cutaneous and hepatic graft-versus-host disease, associated with marked cholestatic jaundice. Despite a series of therapeutic maneuvers, cholestasis persisted but remained relatively stable over the ensuing 10 yr. However, serial liver biopsies revealed progressive biliary-type fibrosis culminating in cirrhosis. Subsequently, her clinical course deteriorated and she developed signs of hepatic failure, and ultimately died 10.5 yr after bone marrow transplantation. The evolution of chronic graft-versus-host disease to cirrhosis may be a limiting factor in the long-term survival of this group of bone marrow transplant recipients. The lack of correlation between the stable clinical or biochemical indices and the progressive hepatic disease underscores the need for sequential liver biopsies in patients with sustained liver function abnormalities after bone marrow transplantation.     

A case of long-term survival of a patient with complicated diffuse metastatic leptomeningeal carcinomatosis secondary to lung adenocarcinoma

A case of long-term survival of a female patient with complicated diffuse metastatic leptomeningeal carcinomatosis (DMLC) secondary to lung cancer is reported. A 36-year-old woman, hospitalized with a chief complaint of headache and unproductive cough, was diagnosed as having primary lung adenocarcinoma (T4N1M1 oss) and was given systemic chemotherapy. Although progressive deterioration of her headache continued, repeated neurological examination, cerebrospinal fluid (CSF) examination, and cranial CT scans failed to show evidence of metastasis to the central nervous system, and the only finding suggesting CNS involvement was an elevated CEA level in CSF. Later in the course of her treatment, the patient suddenly lost her vision and subsequently consciousness due to acute increased intracranial pressure, and emergency ventricular drainage was performed for therapeutic and diagnostic purposes. Malignant cells were found in CSF obtained from a ventricular drainage and she was treated successfully by systemic and intrathecal chemotherapeutic agents. She was discharged after a ventriculoperitoneal shunt operation for hydrocephalus; a double-dome reservoir was used for continuous intrathecal administration of the anticancer drugs, and a shunt filter was located in the tube to prevent the dissemination of cancer cells. In addition to methotrexate and cytosine arabinoside, ACNU and interleukin-2 were administered intrathecally without serious adverse effects, but no apparent therapeutic effects were noted either. She survived over 2 years after DMLC was first diagnosed. At autopsy DMLC secondary to lung adenocarcinoma was confirmed, but no evidence of leukoencephalopathy due to aggressive intrathecal chemotherapy was found. Current therapy for patients with DMLC and its clinical problems are discussed in relation to our experience in this case.     

Recurrent fatal necrotizing fasciitis due to Streptococcus pyogenes in a child with hereditary sensory and automic neuropathy type IV

Although necrotizing fasciitis (NF) is a rapidly progressive infection, recurrent NF is very rare. Herein we report a rare case of recurrent NF due to Streptococcus pyogenes. A 12-year-old female with hereditary sensory and autonomic neuropathy (HSAN) type IV presented with fever and swelling on her left knee. NF was diagnosed and she was treated successfully. Two years later she was readmitted with NF of the right knee and limb. Despite treatment, progressive tissue necrosis developed and proximal femur amputation was performed. Eight months following the second attack she was readmitted with NF of her left knee and her entire leg. Despite a wide surgical debridement and antibiotic treatment, the clinical status of the patient failed to improve and she subsequently died. Although many conditions have been reported to be predisposing factors for NF, this is the first report of an association between HSAN type IV and recurrent NF due to S. pyogenes. We recommend antibiotic prophylaxis for patients with NF due to S. pyogenes, especially for those with predisposing factors.     

A case of arrhythmogenic right ventricular cardiomyopathy

The present report describes a 40-year-old woman with a long history of monomorphic ventricular tachycardia and left bundle branch block. She was treated with various antiarrhythmic agents; ventricular tachycardia ablation was attempted and an automatic implantable cardioverter defibrillator was implanted. Three-dimensional echocardiography clearly demonstrated features of arrhythmogenic right ventricular cardiomyopathy, including marked right ventricular (RV) dilation, decreased RV systolic function and thinning of the RV free wall. Other RV morphological abnormalities included excessive trabeculations and a localized apical aneurysm. Two years later, the patient developed symptoms of congestive heart failure. Despite maximal medical therapy, her clinical condition continued to deteriorate and she was referred for heart transplantation. Results of the pathology of her explanted heart confirmed this rare diagnosis. She presented with an unusual clinical course for arrhythmogenic right ventricular cardiomyopathy, which was complicated by progressive congestive heart failure and ultimately required heart transplantation. Three-dimensional echocardiography identified the structural abnormalities related to this rare disease.     

An indolent case of severe acute respiratory syndrome

Severe acute respiratory syndrome (SARS) is a highly contagious and typically rapidly progressive form of atypical pneumonia, which spread from Asia to many parts of the world in early 2003. Clinical diagnosis of SARS requires the presence of unremitting fever and progressive pneumonia despite antibiotic therapy, particularly in the presence of lymphopenia and raised transaminase levels. We report the case of a woman who had undergone a successful allogeneic bone marrow transplant for acute myeloid leukemia. She presented initially with fever and a normal chest radiograph. Her indolent clinical course of SARS was punctuated by resolution of fever, but there was progressive radiologic deterioration and increasing serum antibody titer against SARS coronavirus. Treatment with oral prednisolone and ribavirin normalized her lymphopenia, altered transaminases, chest radiograph and high-resolution computed tomography appearances rapidly. Our experience should alert other clinicians in recognizing this atypical indolent presentation of SARS, to protect health care workers and the community at large and to ensure that these patients are properly treated.     

Severe hypertriglyceridemia induced by tamoxifen

A 71-year-old woman was admitted to our hospital because of severe hypertriglyceridemia. The patient had a 26-year history of non-insulin-dependent diabetes mellitus and hyperlipidemia (T-chol 300 mg/dl, TG 300 mg/dl). She was treated with sulfonylurea and clofibrate. Seven years before admission, she had undergone a radical mastectomy for cancer of the left breast. After the operation, she had received tamoxifen and fluorouracil. One month before admission, she had marked hypertriglyceridemia (triglyceride 2,106 mg/dl). After discontinuation of tamoxifen and fluorouracil, her serum triglyceride level decreased to 372 mg/dl; when tamoxifen was given again, it increased to 581 mg/dl, and her hepatic triglyceride lipase activity decreased from 0.228 to 0.164 mumol FFA/ml/min. Apolipoprotein E phenotype was wild type E3/3. The concentration of sex-hormone-binding globulin increased from 110 to 130 nmol/l. These changes associated with tamoxifen treatment were similar to those seen after administration of estrogen. Tamoxifen, an anti-estrogen, has been used as adjuvant therapy in cases of estrogen-receptor-positive breast cancer. Tamoxifen has some weak estrogenic activity. The tamoxifen-induced hypertriglyceridemia seen in this case was an effect of its estrogenic action.     

The role of apheresis in the support of life-threatening ITP relapse

A 14-year-old girl with chronic idiopathic thrombocytopenic purpura (ITP) presented in relapse with a platelet count of 1,000/microL and a high-level serum antiplatelet IgG antibody. She previously had been unresponsive to courses of therapy with steroids, vincristine, and splenectomy. When treatment with danazol and purified immunoglobulins was unsuccessful in controlling her rapidly progressive course, an 8-day plasma exchange procedure was initiated in combination with platelet transfusion therapy and immunosuppression with cyclophosphamide and vincristine. Within 2 days, her clinical state improved markedly, correlating with a drop in her serum antiplatelet antibody level. She continued to improve and was discharged on a regimen of cyclophosphamide and danazol. Her antiplatelet antibody level had fallen to within the normal range, despite a typical platelet count of 5,000/microL during the 8-day period. Two weeks later her platelet count rose to 65,000/microL. This case suggests that a course of therapeutic plasma exchange may have a temporizing role in the acute management of life-threatening chronic ITP relapse, generating time for the more definitive therapy of immunosuppression to take effect.     

A Case Report of Successful Treatment With Plasma Exchange for Hemophagocytic Syndrome Associated With Severe Systemic Juvenile Idiopathic Arthritis in an Infant Girl

Abstract: An infantile case of hemophagocytic syndrome (HPS) with systemic juvenile idiopathic arthritis (s-JIA), refractory to methylprednisolone pulse therapy and cyclosporine A administration, was successfully treated by plasma exchange. The patient was a one-year-old Japanese girl who had developed recurrent steroid-dependent signs, including fever, skin eruption, and hepatopathy, while in France, where she had been diagnosed as having s-JIA at eight months of age. As a high fever and rheumatoid rash were evident on arrival at our hospital, she was admitted and given intravenous methylprednisolone pulse therapy and cyclosporine A. She developed pancytopenia with a generalized clonic seizure, high fever, and liver dysfunction after her cytomegalovirus (CMV) titer became positive during the course of treatment; therefore, she was treated with ganciclovir. She was subsequently diagnosed as having HPS complicating s-JIA from the findings of a bone marrow aspirate. At this time, her blood examination data including a high level of C-reactive protein and hyperferritinemia, suggested that her s-JIA was very active, and the pancytopenia continued after her CMV titer became negative. Therefore, CMV infection against a background of active s-JIA could have triggered the HPS in this case. Because the HPS was resistant to an immunosuppressive regime of methylprednisolone pulse therapy and cyclosporine A, plasma exchange therapy was started. After three sessions of this therapy, the patient's symptoms and laboratory data were markedly improved. Our experience suggests that plasma exchange should be considered as a therapeutic tool for HPS refractory to conventional therapy.     

Relapse of Wegener's granulomatosis in the first trimester of pregnancy: a case report

The association of Wegener's granulomatosis and pregnancy is rare and poses unique therapeutic challenges, particularly when active disease presents in early pregnancy. We describe a 22-yr-old woman who recovered successfully from her initial episode of Wegener's granulomatosis with a standard course of treatment with prednisolone and cyclophosphamide. Two and a half years later, she presented with relapse during the first trimester of pregnancy (primigravida). Since the clinical features suggested mild disease, she was started on prednisolone at a dose of 1 mg/kg/day, to which she seemed to respond very well for 3 months. Unfortunately, she had a spontaneous abortion at 5 months of gestation while on 25 mg/day of prednisolone. At this time, her disease flared further, with clinically manifest lung disease which was not part of her initial presentation. She was treated with another course of oral cyclophosphamide and prednisolone, and a remission was achieved in 4 months. There are no agreed guidelines on the treatment of Wegener's granulomatosis during pregnancy. In this report, the therapeutic issues are discussed against the background of the available literature.      

A case of two successful deliveries by a woman with Kallmann syndrome and NIDDM

A 37 year-old female with Kallmann syndrome and NIDDM who had two successful deliveries is reported. She had experienced no menstruation until she had treatment with gestagen in her early twenties. She had withdrawal bleeding only once. At the age of 25, she consulted her family doctor, complaining of amenorrhea. Estrogen progesterone cyclic therapy caused withdrawal bleeding, and clomiphene citrate failed to induce apparent ovulation. In January 1978, 150 IU of hMG was administered daily for 9 days, and then 3000 IU of hCG daily for the following 2 days. This therapy induced pregnancy, which failed spontaneously on June 4th. A year later, in January 1979, 150 IU of hMG was again administered daily for 7 days followed by 6000 IU of hCG for 3 days. This therapy again induced pregnancy. On September 27th, 1979, she delivered a girl vaginally, weighing 3830 g. After this delivery, she experienced no menstruation. In June 1985, she consulted her family doctor again, and she was diagnosed as being pregnant. Since her fasting blood glucose was 145 mg/dl, she was admitted to Kosei Hospital to control her blood glucose. On October 15th, she delivered a girl weighing 2600 g. On June 13th, 1989, she was referred to Kosei Hospital by her family doctor to achieve an accurate control of her blood glucose. During this admission, she was diagnosed as having Kallmann syndrome because of congenital anosmia and hypogonadotropic hypogonadism without any abnormal morphological changes. Vitamin B1 infusion test was negative.(ABSTRACT TRUNCATED AT 250 WORDS)     

Prophylactic subcutaneous heparin therapy as a cause of bilateral adrenal hemorrhage.

A 63-year-old white woman was admitted to the hospital for bilateral total knee arthroplasty. She was given prophylactic subcutaneous heparin therapy postoperatively. Three days later, she had a brief hypotensive episode and an unexplained drop in hemoglobin level. Seven days postoperatively, she became confused and disoriented while complaining of pain in her right side and, later, under her left breast. She also had nausea, vomiting, anorexia, and a vague feeling of "illness." Her condition deteriorated progressively, with blood pressure falling to 65/40 mm Hg and a temperature of 39.7 degrees C. Blood, urine, and cerebrospinal-fluid culture samples showed no evidence of infection. A diagnosis of acute adrenal insufficiency was made. Following corticosteroid therapy, the patient's condition improved markedly. Of interest in our patient was that she had had no antecedent hypotension, sepsis, fever, or surgical complications. Acute adrenal hemorrhage is often overlooked because the symptoms are attributed to other conditions, especially to sepsis. Acute adrenal hemorrhage should be suspected in any stressed patient in whom an abrupt deterioration associated with back or abdominal pain, hypotension, and unexplained fever are noted. Suspicion should be raised regarding those patients who are receiving anticoagulant therapy (including subcutaneous heparin prophylaxis) at the time of deterioration. With increased awareness, more cases of acute bilateral adrenal hemorrhage and subsequent adrenal insufficiency can be recognized ante mortem and treated.