Subclinical Cushing's disease: presentation of three cases and critical review

Unlike subclinical Cushing's disease, adrenal subclinical Cushing's syndrome is widely recognized. It is defined as an autonomous cortisol hyperproduction of mild intensity not causing specific clinical signs, but detectable biochemically as derangements of the hypothalamic-pituitary-adrenal axis function. Although Cushing's disease accounts for the majority of hypercortisolism states, subclinical Cushing's disease has been rarely reported. Three cases of subclinical Cushing's disease due to pituitary corticotrophic macroadenomas, confirmed by immunohistochemistry, are presented in order to underscore its recognition by clinical endocrinologists and to emphasize a diagnostic evaluation of hypercortisolism in all cases of pituitary adenomas.     

Giant colonic diverticulum,clinical presentation,diagnosis and treatment: Systematic review of 166 cases

AIM: To investigate the clinical presentation,diagnosis,and treatment of giant colonic diverticulum(GCD,by means of a complete and updated literature review).GCD is a rare manifestation of diverticular disease of the colon.Less than 200 studies on GCD were published in the literature,predominantly case reports or small patient series.METHODS: A systematic review of the literature was performed using the Embase and PubM ed databases toidentify all the GCD studies.The following MESH search headings were used: "giant colonic diverticulum"; "giant sigmoid diverticulum".The "related articles" function was used to broaden the search,and all of the abstracts,studies,and citations were reviewed by two authors.The following outcomes were of interest: the disease and patient characteristics,study design,indications for surgery,type of operation,and postoperative outcomes.Additionally,a subgroup analysis of cases treated in the last 5 years was performed to show the current trends in the treatment of GCD.A GCD case in an elderly patient treated in our department by a sigmoidectomy with primary anastomosis and a diverting ileostomy is presented as a typical example of the disease.RESULTS: In total,166 GCD cases in 138 studies were identified in the literature.The most common clinical presentation was abdominal pain,which occurred in 69% of the cases.Among the physical signs,an abdominal mass was detected in 48% of the cases,whereas 20% of the patients presented with fever and 14% with abdominal tenderness.Diagnosis is based predominantly on abdominal computed tomography.The most frequent treatment was colic resection with en-bloc resection of the diverticulum,performed in 57.2% of cases,whereas Hartmann's procedure was followed in 11.4% of the cases and a diverticulectomy in 10.2%.An analysis of sixteen cases reported in the last 5 years showed that the majority of patients were treated with sigmoidectomy and en-bloc resection of the diverticulum; the postoperative mortality was null,morbidity was very low(1 patient was hospitalized in the intensive care unit for postoperative hypotension),and the patients were discharged 4-14 d after surgery.CONCLUSION: Giant colonic diverticulum is a rare manifestation of diverticular diseases.Surgical treatment,consisting predominantly of colonic resection with en bloc resection of the diverticulum,is thepreferred option for GCD and guarantees excellent results.     

Chronic active hepatitis in Sweden. The etiologic spectrum, clinical presentation, and laboratory profile

An epidemiologic study covering about 1/3 of the adult Swedish population showed an annual incidence of chronic active hepatitis (CAH) of 1.6 per 100,000. At least 45% had a viral cause of their CAH, the proportion being distinctly higher in large cities than in rural ones. Drugs, alcohol, and metabolic disorders were rarely identified as etiologic factors. The prevalence of ulcerative colitis and gluten enteropathy was remarkably high in idiopathic CAH. Compared with antibody-negative patients with idiopathic CAH, antibody-positive patients showed higher rates of the female sex, IgG increase, anti-HBs negativity, compliance with the Mayo criteria for treatment, and absence of previous episode of jaundice. Furthermore, in autoantibody-negative idiopathic CAH the prevalence of anti-HBs antibodies was at least three times greater than in the Swedish population, suggesting a viral cause of some forms of idiopathic CAH, a suggestion supported by the clinical pattern of the disease.     

Intestinal amyloidosis: Two cases with different patterns of clinical and imaging presentation

The involvement of the small bowel in systemic forms of amyloidosis may be diffuse or very rarely focal.Some cases of focal amyloidomas of the duodenum and jejunum without extraintestinal manifestations have been reported.The focal amyloidomas consisted of extensive amyloid infiltration of the entire intestinal wall thickness.Radiological barium studies,ultrasound and computed tomography(CT)patterns of diffuse small bowel amyloidosis have been described:the signs are non-specific and may include small-bowel...     

Spontaneous renal artery dissection: three cases and clinical algorithms

Spontaneous renal artery dissection (SRAD) is rare. Clinical manifestations vary from minimal symptoms to life-threatening hypertension. We analysed three cases from our institution and conducted a literature review in order to design diagnostic and treatment algorithms for SRAD.     

Saccular coronary aneurysms: angiographic and clinical profile and follow-up of 22 cases

Saccular coronary aneurysms are defined as aneurysms with the transverse dimension at least 1.5 times the longitudinal dimension. Out of 3,200 coronary angiograms reviewed, there were 22 patients (20 males) with saccular coronary aneurysms (totalling 25 aneurysms). The morphology of the aneurysms, the extent and severity of associated coronary lesions, the clinical profile and follow-up data of these patients were analysed. Aneurysms were located in left main coronary artery 3 (12%), left anterior descending coronary artery 13 (52%), right coronary artery 5 (20%) and left circumflex 4 (16%). There were 5 large aneurysms (> 15 mm in diameter) (1 in left main coronary artery, 2 each in right coronary artery and left anterior descending coronary artery) averaging 32 mm in size. Fifteen aneurysms had significant coronary artery stenosis located proximal to it, supporting the theory of post-stenotic dilatation as the aetiology of aneurysm formation. Two patients had associated muscle bridges distal to the aneurysm; 20 had atherosclerotic coronary artery disease and one had coronary artery ectasia. Five patients were lost to follow-up, which ranged from 1 year to 19 years (mean 5.3 +/- 4.1 years). No patient had history suggestive of rupture of the aneurysm on follow-up. Two patients had myocardial infarction in the territory of the vessel with the aneurysm. Rest of the patients were in NYHA class I/II. One large right coronary artery aneurysm was subjected to aneurysmectomy due to symptoms of tricuspid valve obstruction. One left main coronary artery aneurysm measuring 12 mm, on follow-up of 19 years increased in size to 45 mm, in addition the patient developed a right coronary artery aneurysm. Coronary risk factor profiles in the 20 patients with atherosclerotic coronary artery disease and aneurysms were similar to age- and sex-matched control population with atherosclerotic coronary artery disease without aneurysms.     

Fascioliasis: 3 cases with three different clinical presentations

Fascioliasis, which is a zoonotic infestation caused by the trematode Fasciola hepatica (liver fluke), is primarily a disease of herbivorous animals such as sheep and cattle. Humans become accidental hosts through ingesting uncooked aquatic plants such as watercress. It presents a wide spectrum of clinical pictures ranging from fever, eosinophilia and vague gastrointestinal symptoms in the acute phase to cholangitis, cholecystitis, biliary obstruction, extrahepatic infestation, or asymptomatic eosinophilia in the chronic phase. However, it may often be overlooked, especially in the acute phase, because of vague symptoms. As a result of newly introduced serological assays facilitating the diagnosis, there has been an increase in the number of reported cases. Here, we report the clinical and laboratory assessment and therapeutic approach of a series of three cases diagnosed (in order of) one week, three months and one and a half years after presentation of the first symptoms of the disease.     

Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation

OBJECTIVE: An 11-year-old girl, presenting with fatigue and bruising, was found to be profoundly pancytopenic. Bone marrow exam and clinical evaluation were consistent with aplastic anemia. Family members were studied as potential stem cell donors, revealing that both younger siblings displayed significant thrombocytopenia, whereas both parents had normal blood counts. We evaluated this pedigree to understand the unusually late presentation of congenital amegakaryocytic thrombocytopenia (CAMT). MATERIALS AND METHODS: The coding region and the intron/exon junctions of MPL were sequenced from each family member. Vectors representing each of the mutations were constructed and tested for the ability to support growth of Baf3/Mpl(mutant) cells. RESULTS: All three siblings had elevated thrombopoietin levels. Analysis of genomic DNA demonstrated that each parent had mutations/polymorphisms in a single MPL allele and that each child was a compound heterozygote, having inherited both abnormal alleles. The maternal allele encoded a mutation of the donor splice-junction at the exon-3/intron-3 boundary. A mini-gene construct encoding normal vs mutant versions of the intron-3 donor-site demonstrated that physiologic splicing was significantly reduced in the mutant construct. CONCLUSIONS: Mutations that incompletely eliminate Mpl expression/function may result in delayed diagnosis of CAMT and confusion with aplastic anemia.     

Alpha-interferon-induced arthritis: clinical presentation, treatment, and prevention

Objective:

The therapeutic applications of alpha-interferon (IFN) have expandedgreatly to include chronic viral hepatitis and malignant disorders. Autoimmune phenomena occur frequently with IFN therapy, but arthritis is uncommon. We describe the clinical features and treatment of IFN-induced arthritis.

Methods:

A patient with chronic myelogenous leukemia who developed arthritis secondary to IFN therapy is presented. The clinical features and treatment of this condition in 37 additional cases are reviewed.

Results:

The most common clinical presentation was symmetric polyarthritis.This was associated with antinuclear antibodies in 72% of patients and rheumatoid factor in 34%. Cessation of IFN, with or without the addition of antiinflammatory or remittive agents, resulted in remission of arthritis in 89% and 71% of the cases, respectively. Restarting IFN therapy resulted in recurrence of arthritis in 63%. In the patient described in this report, recurrence of arthritis was prevented by coadministration of hydroxychloroquine (HCQ) and prednisone.

Conclusion:

Arthritis is an uncommon complication of IFN therapy; but it may lead to cessation of this treatment modality. In such cases, coadministration of a remittive agent such as HCQ may enable reinstitution of IFN therapy without recurrence of arthritis.     

Lyme arthritis: pathogenesis, clinical presentation, and management

Arthritis is one of the most prominent features of Lyme disease, the tick-borne illness caused by Borrelia burgdorferi. Although the pathogenesis of Lyme arthritis is complex and still under study, the clinical presentation and natural history have been established by long-term observation of untreated and treated patients. This review addresses the clinical presentation of Lyme arthritis as a mono- or oligoarticular relapsing/remitting arthritis primarily affecting the large joints and describes presentations in which arthralgias rather than arthritis are seen. Strategies for diagnosis and treatment are discussed, and methods are reviewed for addressing treatment-refractory Lyme arthritis and arthralgias that may occur after treatment of Lyme disease (sometimes as a component of what is known as the post-Lyme disease syndrome).     

Mastocytosis: classification, diagnosis, and clinical presentation.

Mastocytosis comprises several diseases characterized by an abnormal increase in tissue mast cells. Cutaneous mastocytosis (CM) is the most common form of mastocytosis, affects predominantly children, and presents as a mast cell hyperplasia limited to the skin. Systemic mastocytosis (SM) comprises multiple distinct entities in which mast cells in filtrate the skin and/or other organs. The diagnosis of SM is based on the presence of one major criterion and one minor criterion or three minor criteria. Major criteria include the presence of multifocal dense infiltrates of > 15 mast cells in bone marrow and/or other extracutaneous organs. Four minor criteria include the presence of elevated serum alpha-tryptase levels > 20 ng/mL, the expression of CD2 and CD25 surface markers in c-kit-positive mast cells from bone marrow or other organs, the presence of a c-kit mutations on bone marrow and/or other tissues mast cells, and the presence of > 25% abnormal spindle-shaped mast cells in bone marrow and/or tissues. Symptoms of CM include pruritus, flushing urticaria, and dermatographism. Symptoms of SM include cutaneous symptoms in association with syncope, gastric distress, nausea and vomiting, diarrhea, bone pain, and neuropsychiatric symptoms. Activating and nonactivating mutations of c-kit (Asp816Val) are seen in adult SM and in some pediatric CM (Gly839Lys), indicating a clonal dysregulation. There is no cure for mastocytosis but the majority of pediatric CM regress at puberty. Women with mastocytosis are fertile and pregnancy and delivery have been successful by blocking mast cell-mediated symptoms. Symptomatic treatment aimed at reducing the effect of mediators is effective with antihistamines and mast cell-stabilizing agents such as sodium cromolyn. To reduce mast cell burden, interferon alpha, steroids, and purine analogs have been used with varying results. Future directions include tyrosine kinase inhibitors and bone marrow transplant.     

Wilson disease: clinical presentation, treatment, and survival

OBJECTIVE: To evaluate the diagnostic features, clinical course, and overall long-term survival of patients with Wilson disease. DESIGN: Retrospective cohort study with a mean follow-up period of 14.2 years. SETTING: A university medical center and a community hospital. PATIENTS: Fifty-one consecutive patients with Wilson disease were evaluated between 1957 and 1989. INTERVENTIONS: Patients were treated with D-penicillamine (600 to 1800 mg/d). Two patients with end-stage liver disease had liver transplantation. MAIN RESULTS: Initial symptoms occurred at a mean age of 15.5 years. At diagnosis, the most common neurologic signs were dysarthria, tremor, writing difficulties, and ataxia followed by hypersalivation and headache. Somatic symptoms included abdominal pain, hepatomegaly, splenomegaly, cirrhosis of the liver, and thrombocytopenia. The mean serum concentrations of ceruloplasmin and copper were 44 mg/L and 4.7 mumol/L, respectively. The mean basal urinary copper excretion was 5.5 mumol/d, and the mean hepatic copper concentration was 19.6 mumol/g dry weight. Free serum copper concentration (mean, 2.7 mumol/L) was a reliable indicator of disease and was useful in assessing the effectiveness of therapy (values less than 1.6 mumol/L). Treatment with D-penicillamine improved most of the hematologic and neurologic abnormalities but had little effect on hepatomegaly and splenomegaly and did not reverse cirrhosis. Two patients died of fulminant hepatic failure during the observation period, whereas two others with end-stage liver disease had successful liver transplantation and remain asymptomatic. Long-term survival of patients with Wilson disease was similar to that of age- and sex-matched controls. CONCLUSION: Our results suggest that long-term treatment of patients with Wilson disease with D-penicillamine can relieve symptoms and improve prognosis.     

Different clinical form of tuberculosis in childhood: three cases

Childhood tuberculosis (Tbc) is an important cause of morbidity and mortality and the highest case burden, an estimated 95% of all Tbc cases is found in developing countries. Although childhood Tbc contributes to only 3-6% of the total caseload in industrialized countries, it makes up a large proportion (15-20%) of all Tbc cases in developing countries. The diagnosis of tuberculosis in children is quite difficult and seldom confirmed and is based mainly on clinical signs, symptoms, history of contact with adult and special investigations. Tbc in children, which is paucibacillary in nature, is usually smear-negative. Bacteriological confirmation by culture of Mycobacterium tuberculosis the gold standard of diagnosis, but rarely exceeds 30-40%. In this writing, we report three different cases those are diagnosed as a Tbc and treated.     

Hepatoportal sclerosis clinical different evolutionary stages: presentation of 3 cases and literature review

Hepatoportal sclerosis (HPS) is characterized by presinusoidal intrahepatic portal hypertension associated with splenomegaly and anemia in patients with non-cirrhotic liver. Liver biopsy is essential, especially to rule out other processes. Being a disease of unknown etiology, the majority of cases have been described in eastern countries. However, it may be an underdiagnosed disease in the West. Symptoms are related to portal hypertension and the clinical spectrum is wide, ranging from anemia with normal liver function tests to bleeding due to esophageal varices. Treatment is directed to the complications and the prognosis is better than in patients with cirrhosis.We report three cases of HPS presenting at different clinical stages and the findings of liver biopsies, the clinical outcomes and a review of scientific literature.     

Acute abdominal symptoms in malignant hypertension: clinical presentation in five cases

Malignant hypertension causes anatomical and functional damage in several target organs, in particular brain, retina, heart and kidneys. Although vascular lesions in the gastroenteric tract are known to occur in several instances, their clinical relevance is unknown. In this study five cases of malignant hypertension, presenting with acute abdominal symptoms, are reported. A history of essential arterial hypertension was present in three patients; while one patient had a previous diagnosis of renovascular hypertension and one patient had renoparenchymal hypertension. However, in all cases the antihypertensive treatment was discontinued and inadequate before the accelerated malignant phase. The acute abdominal symptoms at presentation were due to intestinal infarction in 3 patients and acute pancreatitis in 2 patients. One patient with intestinal infarction died of postoperative cardiogenic shock. Our data are in agreement with previous reports describing the possible intra-abdominal complications of malignant hypertension. The therapeutic approach in such conditions should always consider an effective antihypertensive treatment in conjunction with surgical options.     

Infective endocarditis: clinical spectrum, presentation and outcome. An analysis of 212 cases 1980-1995

OBJECTIVE—To evaluate recent changes in the spectrum and clinical presentation of infective endocarditis and to determine predictors of outcome.
DESIGN—A retrospective case study.
METHODS—Demographic, clinical, and echocardiographic characteristics were examined in 212 patients who fulfilled the Duke criteria for infective endocarditis between January 1980 and December 1995 to assess changes in clinical presentation and survival.
RESULTS—Clinical presentation and course did not change significantly during the study period despite the concurrent introduction of new diagnostic tools (for example, transoesophageal echocardiography). In-hospital mortality was 15% and remained unchanged. Neurological symptoms on admission, arthralgia, and weight loss were all independent risk factors for adverse outcome (odds ratios 26.1, 6.2, and 4.2, respectively). Age, prosthetic valve disease, previous antibiotic treatment, renal insufficiency, surgical treatment, and the type of valve involved were not predictive of mortality. In contrast to all other major reports, Streptococcus viridans was the most common causative organism in intravenous drug users (52%).
CONCLUSIONS—Despite the introduction of new diagnostic tools, the course of infective endocarditis has remained unchanged over a period of 16 years. Evidence of early dissemination of the disease to other sites was associated with adverse outcome. Even in elderly patients, early aggressive treatment seems to be effective.


Keywords: infective endocarditis; outcome; prognostic factors