[Morbus gaucher--a report of two cases].

BACKGROUND: [corrected] Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918). Deficiency of glucocerebrosidase leads to the accumulation of the lipid glucocerebroside within the lysosomes of the monocyte macrophage system. Lipid-laden cells, known as Gaucher cells, lead to hepatosplenomegaly, multiorgan dysfunction and sceletal deterioration. CASE REPORT: We reported a 36-year-old male and a 42-year-old female admitted for the clinical examination due to hepatosplenomegaly. The Clinical diagnosis was provided by a bone marrow examination and demonstration of the characteristic Gaucher cells. Both of the patients had type I Gaucher's disease (a mild form of the disease), wich is distiguished by the lack of central nervous system involvement and striking phenotypic variation. We had not a possibility of testing beta-glucocerebrosidase activity in peripheral leukocytes (a definitive diagnosis of Gaucher's disease). Also, enzyme replacement therapy had not been available in our country. CONCLUSION: Althoungh rare, Gaucher's disease is also present in our country. Both molecular genetic, and the enzyme beta-glucocerebrosidase activity testing in peripheral leukocytes are needed for the definitive diagnosis of this disease.

[Human ehrlichiosis].

BACKGROUND: Human ehrlichiosis is a newly recognized disease. It is a tick-borne disease caused by several bacterial species of the genhus Erlichia. These are small gram-negative pleomorphic cocci, that are obligatory intracellular bacteria. Tick Ixodes is the principle vector in Europe, and Amblyomma amenicanum in the United States. Bacterial organisms replicate in a tick, and are transmited from infected cells in a vector to the blood cells of animals or humans. Human ehrlichiosis is a name for a group of diseases caused by different species of Ehrlichia. One of them is the disease named human monocytic ehrlichiosis, caused by Ehrlichia chaffeensis, and the other is a human granulocytic ehrlichiosis caused by Anaplasma phagocytophilia. CASE REPORT: We reported a 23-year-old patient admitted for the clinical treatment with the symptoms of high febrility (above 40 degrees C), headache, vomiting, general weakness and exhaustion, but without data on a tick bite. The patient was treated with trimetoprim-sulfamethoxazole for a week when Ehrlichia chaffeensis was confirmed by the immunofluoroscence test, and the therapy contimed with doxacyclin. CONCLUSION: Human ehrlichiosis is also present in our country, so this disease should be considered everyday, especially in infectology practice.

[Therapy of acute hepatitis C infection].

BACKGROUND: Hepatitis C viral infection is a major cause of chronic hepatitis, liver cirrhosis and hepatocellular carcinoma. The progression of acute to chronic infection occurs in 50-90% of cases. There is no standard therapy for acute HCV infection. Comparative studies are required to verify the optimal doses, dosage schedules and the treatment duration, and to establish the optimal treatment for acute hepatitis C. Recent reports have demonstrated that early application of interferon alpha was a treatment of choice for acute HCV infection. The addition of ribavirinin in the treatment of acute HCV infection, and HCV genotype, did not improve the end-of-treatment responses. It is important to consider the treatment of acute HCV infection before it progresses to chronic state. CASE REPORT: Beneficial effect of interferon therapy in a patient with acute hepatitis C is presented. Early treatment with 3 MIU interferon alpha, three times a week, within six-months, resulted in the normal serum aminotransferases, and good virological response in our patient. CONCLUSION: Interferon therapy significantly increased the probability of obtaining normal serum aminotransferases and undetectable HCV RNA, following acute HCV infection.

[Kikuchi-Fujimoto disease]. / Kikuchi-Fujimotova bolest.

Kikuchi-Fujimoto disease (KFD), also know as histiocytic necrotizing lymphadenitis, is a benign disorder characterized histologically by necrotic foci surrounded by histiocytic aggregates, and with the absence of neutrophils. KFD was recognized in Japan, where it was first described in 1972. The disease is most commonly affecting young women. The cause of the disease is unknown, and its exact pathogenesis has not yet been clarified. Many investigators have postulated viral etiology of KFD, connecting it with Epstein Barr virus, human herpes simplex virus 6 parvo B 19, but also with toxoplasmic infection. Kikuchi-Fujimoto disease is usually manifested with lymphadenopathy and high fever, and is associated with lymphopenia, splenomegaly, and hepatomegaly with abnormal liver function tests, arthralgia, and weight loss. The disease has the tendency of spontaneous remission, with mean duration of three months. Single recurrent episodes of KFD have been reported with many years' pauses between the episodes. Kikuchi-Fujimoto disease may reflect systemic lupus erythematosus (SLE), and self-limited SLE-like conditions. Final diagnosis could only be established on the basis of typical morphological changes in the lymph node, and lymph node biopsy is needed for establishing the diagnosis. Lymphadenopathy in a patient with fever of the unknown origin could provide a clue to the diagnosis of lymphoma, tuberculosis, metastatic carcinoma, toxoplasmosis and infectious mononucleosis. As KFD does not have any classical clinical features and laboratory characteristics, it may lead to diagnostic confusion and erroneous treatment. We described a case of KFD, and suggested that this disease should be considered as a possible cause of fever of the unknown origin with lymphadenopathy.

[Actinomycosis--a multidisciplinary approach to a clinical problem]. / Aktinomikoza--multidisciplinarni pristup klinickom problemu.

Actinomycosis is caused by microorganisms of the Actinomyces species, found in the oral cavity, gastrointestinal and genital tract. Infection by Actimomyces species mainly causes chronic supurative disease of the oral, cervico-facial, thoracic, and abdominal regions. Clinical manifestations have been described at every level, but the disease is relatively rarely diagnosed. The causative agent is considered to be an opportunistic pathogen associated with infection, trauma, surgical procedures, or associated with a neoplasm or foreign body. Symptoms include intermittent fever, weight loss, abdominal or thoracic pain, pseudotumor and tumor masses, and local symptoms from the infected area. Pseudotumor and tumor masses are diagnosed by ultrasonography and computerized tomography. The diagnosis is confirmed by the presence of a causative agent in biopsy or surgically acquired samples. The treatment includes the administration of high doses of antibiotics (penicillin, amoxicillin, ceftriaxone) for at least 6-12 months, as well as surgical treatment. Penicillin is a drug of choice. This infection is often polymicrobial, so that antibiotic therapy should include agents that act against the associated pathogens. Treatment outcome and prognosis in these three cases were excellent, despite the prolonged course of the extensive disease.

[Infective endocarditis of a rare etiology (Serratia marcescens)]. / Infektivni endokarditis retke etiologije (Serratia marcescens).

Infective endocarditis (IE) is a unique diagnostic and therapeutic challenge. It is a severe disease, fatal before penicillin discovery. Atypical presentations frequently led to delayed diagnosis and poor outcome. There was little information about the natural history of the vegetations during medical treatment or the relation of morphologic changes in vegetation to late complications. Application of a new diagnostic criteria and echocardiography, increased the number of definite diagnosis. Trans-thoracic and trans-esophageal echocardiography had an established role in the management of patients with IE. The evolution of vegetation size, its mobility, and consistency, the extent of the disease, and the severity of valvular regurgutation were related to late complications. With therapeutic options including modern antibiotic treatment and early surgical intervention IE turned out to be a curable disease. Reduction in mortality also depended on prevention. Antibiotic prophylaxis of IE was important, but low mortality was also the result of early treatment, especially in the event of early recognition of symptoms and signs of the disease.

[Fulminant hepatitis B]. / Fulminantni hepatitis B.

Fulminant hepatitis, or fulminant hepatic failure, is defined as a clinical syndrome of severe liver function impairment, which causes hepatic coma and the decrease in synthesizing capacity of liver, and develops within eight weeks of the onset of hepatitis. Several independent factors influence the survival of patients: age, the cause of liver disease, the degree and the duration of encephalopathy in relation to the onset of the disease, and the prevention of complications. Over the years many intensive treatments have been practiced. Liver transplantation is expensive, and patients who survive transplantation require life-long immunosuppression, clinical care and complications management. Without transplantation fulminant hepatitis and hepatic failure might be completely recovered spontaneously, and the patient could expect a normal life. Two cases of fulminant B hepatitis with intensive care treatment, and their survival despite unfavorable prognosis are presented in this paper. The management of patients with fulminant hepatitis required intensive monitoring and therapeutic measures, including corticosteroids. The prognosis for survival without transplantation in fulminant hepatitis is limited by the measures of medical treatment and new specific therapeutic modalities which must be developed through basic research.

[Multiorgan tuberculosis]. / Multiorganska tuberkuloza.

Tuberculosis is an unusual infectious disease because of the latent period between the infection and the appearance of the disease may be prolonged for many weeks, months, or years as it is in case of the secondary tuberculosis. Tuberculosis in organs other than the lung has been observed for many years but has not always been recognized as tuberculosis, and it has been given many names. Extrapulmonary tuberculosis gained new importance, because it represented a progressively greater proportion of new cases. Multiple extrapulmonary sites were reported rarely except for one anatomical site, which was reported frequently. Extrapulmonary rates increase with age, so there are marked differences in age in specific rate patterns among the sites. Extrapulmonary tuberculosis occurred in respiratory organs other than lung, such as lymphatic, urogenital, and central nervous system, abdominal, osteoarticular, as well as tuberculosis of other organs such as skin, pericardium and endocrine glands. This case was reported to analyse clinical, morphologic and laboratory characteristics, method of diagnosis and the outcome in patients with multiorgan tuberculosis in order to explore the factors which might contribute to the decision making, concerning these forms of tuberculosis. Recent knowledge of pathogenesis was summarized as well as clinical presentation and the effects of cytokines produced by T lymphocytes and cellular population on antimycobacterial immune defences, and also susceptibility to tuberculosis. Mortality remains high and the treatment should start as soon as tuberculosis is suspected.