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PURPOSES: To inform about a case of Revesz syndrome (RS) with initial ophthalmological symptomatology of severe proliferative vitreoretinopathy of the left eye (LE). After the aplastic anemia had developed, RS was established. The exudative retinopathy was successfully treated with photocoagulation on the right eye (RE). BACKGROUND: RS is characterized by fatal bone marrow failure, exudative retinopathy, neuroradiographic abnormalities, neurodevelopmental delay and skin abnormalities. Non-treated exudative retinopathy leads to blindness. METHODS: We report ophthalmological findings as follows: fundus photography and fluorescein angiography (FA) acquired by examinations under general anesthesia in patient with RS. Results of genetic tests helped to establish the diagnosis. RESULTS: Two­year old Caucasian male was examined due to total retinal detachment on LE and signs of chorioretinal scarring on RE. In preoperative screening, thrombocytopenia was detected; later, severe pancytopenia developed. Considering the hematological findings and clinical appearance, we suspected RS, which was confirmed by genetic tests. We found a pathogenic mutation in gene TINF2 (variant c.865C>T;p.Pro289Ser) in a mosaic state with autosomal dominant mode of inheritance. This mutation has not been described in RS yet. Blind LE was enucleated because of dolorous neovascular glaucoma. FA of RE shows excessive areas of capillary nonperfusion with vascular abnormalities and exudation. After the photocoagulation, the visual acuity (VA) on RE remains 0.9 at the age of 7 years. CONCLUSIONS: RS is an extremely rare condition.  The initial symptomatology could be ophthalmological or hematological. The positive finding of TINF2 gene mutation helped in establishing the correct diagnosis. The ischemic retinopathy was successfully treated by photocoagulation (Fig. 6, Ref. 6). Text in PDF www.elis.sk.

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This paper reviews the most common causes of thrombocytopenia in the newborn. It mentions few classification schemes that clearly characterize the most common causes, diagnosis and treatment approaches for neonatal thrombocytopenia. Particular attention is paid to inborn macrothrombocytopenia without congenital anomalies. They represent a rare group of diseases, often captured randomly or during routine examinations. An attention is paid on congenital macrothrombocytopenia variants with mutations in the MYH9 gene. If they are not associated with other disorders (deafness, presenile cataracts, nephritis or renal failure), they may be mistakenly diagnosed as the acquired immune thrombocytopenic purpura (ITP). This distinguishing is essential to avoid potentially harmful and unnecessary treatment. The listed case report points to a situation where a detection of the root causes of neonatal thrombocytopenia led to a review of misdiagnosed ITP in the mother. A platelet size evaluation by both an appropriate cell counter and blood film examination is useful for differentiating a heterogeneous group of rare inherited macrothrombocytopenias. A healthy twin supported autosomal dominant inheritance. The results of investigations of twins and mother confirmed the congenital/inherited macrothrombocytopenia from the group of MYH9-related diseases (Tab. 5, Fig. 2, Ref. 21).

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Tick-borne encephalitis (TBE) virus is an important human pathogen belonging to the genus Flavivirus within the family Flaviviridae. The genome of the TBE virus is a single-stranded RNA (ssRNA) molecule of positive polarity encoding all the viral proteins within a single open reading frame (ORF). TBE virus shares common physical and genetic characteristic of the flavivirus genus. Two subtypes of the TBE virus have been described: (1) European, endemic in many parts of Europe and transmitted by Ixodes ricinus ticks, and (2) Far Eastern (Russian spring summer encephalitis (RSSE) virus), endemic in Far East and transmitted by Ixodes persulcatus ticks.

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Nephropathia epidemica was supposed to be an European form of haemorrhagic fever with renal syndrome (HFRS). However, in 1989-1991 we found serological evidence of infection with Hantaan virus in patients' sera from Slovakia. Higher titers of antibodies against Hantaan virus were detected in sera of 6 out of 75 patients with febrile disease, renal failure and clinical diagnosis of HFRS. The higher titers of antibodies against Puumala virus were detected in sera of 6 out of 75 patients. Serologic differentiation between Hantaan and Puumala infection in patients was based on the detection of higher antibody titers (4-fold or greater differences).

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Adult white mice immunized perorally with the infectious Skalica strain from the tick-borne encephalitis (TBE) virus complex did not show any clinical symptoms of illness. 56% of experimental animals immunized with two doses of the Skalica virus (the titer of virus was 6 x 10(10) LD50) were protected against the challenge with the Hypr strain of TBE virus. All mice immunized with the Skalica virus and having haemagglutination-inhibiting antibodies higher than 1:80 survived the challenge with the given dose of virulent TBE virus. No differences in the immunogenicity and protectivity were observed in experimental animals infected with infectious Skalica virus by oesophageal probe, or by drinking virus-containing medium. A higher protective activity against the virulent Hypr virus was observed in adult white mice immunized subcutaneously with the Skalica virus.

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During the period between 1986 and 1989 in the region 1311 people working in forestry were vaccinated against tick-borne encephalitis by the inactivated Soviet vaccine. Only some of the people had prevaccination examinations only in some reactogenity of the vaccine was investigated as well as the persistence of humoral antibodies one and two years after the basic vaccination. These examinations in some of the vaccinated subjects were made in autumn 1986 and spring 1987. After two doses of vaccine in the haemagglutination-inhibition test (HIT) the seroconversion was 77% (of 182 evaluated) with a geometric mean of 37.9. One year after the primary vaccination in 53% of the examined subjects the titre of humoral antibodies dropped to negative values. Two years after the primary vaccination in the HIT antibodies were detected in 44% of 57 examined subjects. None of the immunized subjects contracted tick-borne encephalitis.

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The flavivirus Skalica was isolated from a bank vole in Czechoslovakia in 1976. It can be serologically distinguished from prototype strains of tick-borne encephalitis (TBE) virus and has a decreased virulence for adult mice. We have further defined the relationship of Skalica virus to other members of the TBE serocomplex (TBE European and Far Eastern subtypes, Langat and louping ill virus) by using a panel of 22 monoclonal antibodies, peptide mapping and RNA sequence analyses. By these criteria Skalica virus proved to be distinct from TBE virus and to be very closely related to Langat virus, differing by only two bases among a total of 416 nucleotides compared. The sequence of 22% of the Langat genome was determined and the encoded amino acid sequences were derived. Comparison of these with the corresponding amino acid sequences of TBE virus revealed a similarity of 85%, as opposed to 93% similarity between the European and Far Eastern subtypes of TBE virus.

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We present serological evidence of infection with western and eastern type of haemorrhagic fever with renal syndrome (HFRS) virus in patient's sera from Slovakia by indirect immunofluorescence. Treatment of sera with 2-mercaptoethanol decreased levels of haemagglutination-inhibition (HI) antibodies to the eastern type of HFRS suggesting primary infection of the patients by this virus.

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The Skalica virus has been compared with Hypr and Langat viruses by kinetic haemagglutination-inhibition (HI) test. Using Hypr antigen, differences were observed between Skalica, Hypr, and Langat viruses. By the use of Skalica antigen, a close relationship between Hypr and Skalica viruses was detected, however, it was possible to differentiate the Langat virus. When Langat antigen was tested, a close relationship among all the three viruses was found.

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Two monoclonal antibodies (MoAb) to the Skalica virus from the tick-borne encephalitis (TBE) complex were used to compare Karshi and Royal Farm viruses with the Russian spring-summer encephalitis, Central European encephalitis (Hypr and Kumlinge strains) Skalica, Langat and Powassan viruses. The first MoAb was prepared by fusion of P3NS1 cells with BALB/c mouse spleen cells, immunized with the Skalica virus; it was of IgM class and reacted in haemagglutination-inhibition (HI) test (MoAb type 1). The second MoAb was of IgG class and reacted in complement-fixation (CF) test (MoAb type 2). MoAb type 1 reacted in the HI test with Russian spring-summer encephalitis (RSSE), Central European encephalitis (CEE) virus strains, Skalica and Langat viruses. No reaction was observed with Powassan, Karshi, and Royal Farm viruses. MoAb type 2 reacted in the CF test with all members of tick-borne encephalitis complex except the Powassan, Karshi, and Royal Farm viruses.

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Hemorrhagic Fever with renal syndrome (HFRS) is endemic in East Slovakia. The paper presents the clinical picture of 4 serologically confirmed cases. Two of the 4 patients had serological evidence of recent Hantaan virus infection. Positive immunofluorescent reactions with Puumala virus (CG 18-20) were detected in the sera of the other two patients. The obtained results suggest the circulation of two serotypes of HFRS in Slovakia.

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In 1988 the organs of a male were examined post mortem for the presence of viruses in isolation experiments on white suckling mice. The virus isolated from the cervical spinal cord was identified as the virus of tick-borne encephalitis. Although death from tick-borne encephalitis is rather rare in Slovakia, the disease requires great attention with special focus on preventive measures.

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Different methods of the preparation of haemorrhagic fever with renal syndrome (HFRS) antigen for complement-fixation (CF) test are described. The antigens were prepared from the organs of suckling white rats inoculated with the Western type of HRFS by precipitation with polyethylene glycol, by fluorocarbon treatment and or by sucrose-acetone extraction. The highest CF titre was obtained by acetone precipitation of 20% brain suspension in isotonic sucrose.

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Direct enzyme-linked immunosorbent assay (ELISA) was used for the demonstration of haemorrhagic fever with renal syndrome (HFRS) virus antigen in lung tissue of small rodents trapped in Eastern and Western Slovakia. The eastern subtype of HFRS virus antigen was demonstrated in the lungs of Apodemus agrarius and of the western subtype in the lungs of Microtus arvalis. Antibodies to HFRS virus antigen have been detected in Apodemus species (A. agrarius and A. flavicollis) in higher titres to the Eastern subtype.

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Solid-phase enzyme-linked immunoassay (ELISA) was used for the detection of antigenic relationships and/or differences among the viruses belonging to the tick-borne encephalitis (TBE) complex. Monoclonal antibodies of IgM class with haemagglutination-inhibiting activity to the Skalica strain of TBE virus were used to compare the TBE complex viruses. Antigenic analysis of 9 viruses of the TBE complex, isolated from Eurasia and America showed close relationships among them. Nevertheless, it was possible to differentiate the Skalica strain from Langat, louping-ill and Omsk haemorrhagic fever (OHF) viruses by ELISA when monoclonal antibodies and antigens were diluted 1:10,000. Monoclonal antibodies to the Russian spring-summer encephalitis virus did not react with the Skalica strain in immunofluorescence test. By the use of convalescent serum no reaction was found with louping-ill, Russian spring-summer encephalitis, Powassan and OHF viruses in haemagglutination-inhibition (HI) test.

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Experimental parenteral inoculation of Dermacentor reticulatus ticks with the rickettsia Coxiella burnetii (C.b.) and tick-borne encephalitis (TBE) virus resulted in a generalized rickettsial and viral infection, irrespective of whether the agents were given simultaneously or by a 7 days interval apart. Both agents multiplied intensively in ticks, C.b. being detectable predominantly in cytoplasmic vacuoles and TBE virus mostly in the endoplasmic reticulum.

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