RESUMEN
A new case of Hermansky-Pudlak syndrome is reported. Clinical, ophthalmological, hematological and dermatological explorations are all described in detail, with emphasis placed on the risks of non-recognition of the syndrome. The ocular albinism is associated with a cutaneous syndrome of highly variable expression and a thrombopathy generally without frank clinical consequence. The quasi spontaneous meningeal hemorrhage noted in this case is unusual. Literature data on this syndrome is reviewed and its main features are described.
Asunto(s)
Albinismo/complicaciones , Trastornos Hemorrágicos/complicaciones , Albinismo/diagnóstico , Pruebas de Coagulación Sanguínea , Médula Ósea/ultraestructura , Células de la Médula Ósea , Trastornos Hemorrágicos/diagnóstico , Trastornos Hemorrágicos/patología , Humanos , Lactante , Masculino , SíndromeRESUMEN
We studied the case of a young patient affected by a Hermansky-Pudlak syndrome: oculocutaneous albinism of variable intensity with essentially an haemorrhagic diathesis due to a "pool vide" thrombopathy. In beginning the only obvious symptom was a nystagmus and an ocular albinism. Cerebrospinal hemorrhage has up to now never been reported to our knowledge. Healthy carriers can be detected by ophthalmological examination and hematological coagulation tests. Albinos must benefit of systematical coagulation tests in order to prevent drug induced haemorrhagic accident.
Asunto(s)
Albinismo/complicaciones , Trastornos de la Coagulación Sanguínea/complicaciones , Oftalmopatías/etiología , Albinismo/patología , Biopsia , Trastornos de la Coagulación Sanguínea/diagnóstico , Oftalmopatías/diagnóstico , Humanos , Lactante , Masculino , Piel/patología , SíndromeRESUMEN
The Coulter Counter S Plus is a reliable instrument for performing platelet counts, platelet sizing and different platelet indices. A critical analysis of platelet indices, mean red cell volume and platelet histograms indicates the presence of small erythrocytes thus avoiding any errors.
Asunto(s)
Pruebas Hematológicas/instrumentación , Recuento de Plaquetas/instrumentación , Índices de Eritrocitos , Volumen de Eritrocitos , Pruebas Hematológicas/métodos , Humanos , Recuento de Plaquetas/métodosRESUMEN
Platelet volume distribution was examined in 47 thrombocytopenic subjects with a platelet count between 20 X 10(9) and 150 X 10(9)/1. Thrombocytopenia was attributed to defective production in 19 cases (12 acute leukemia) and to accelerated destruction in 28 cases (27 idiopathic thrombocytopenic purpura). Six volume variables were retained from the platelet volume distribution curves. A multivariate discriminant analysis has shown that the median of the curves was the most discriminant parameter between the two types of thrombocytopenia: the value of the median was less than 7 micron 3 in 89.5% of patients with defective platelet production and greater than 7 micron 3 in 85.7% of those with excessive platelet destruction. Thus, platelet volume measurement and the median value in particular allows a rapid orientation of the etiological diagnosis of thrombocytopenia.
Asunto(s)
Plaquetas/citología , Trombocitopenia/sangre , Enfermedad Aguda , Adolescente , Adulto , Anciano , Niño , Femenino , Humanos , Leucemia/sangre , Leucemia/complicaciones , Masculino , Persona de Mediana Edad , Recuento de Plaquetas , Púrpura Trombocitopénica/sangre , Púrpura Trombocitopénica/complicaciones , Trombocitopenia/diagnóstico , Trombocitopenia/etiologíaRESUMEN
We report the second case of Hodgkin's disease associated with thrombotic thrombocytopenic purpura (TTP). Although the two diseases coexisted originally, TTP was diagnosed alone at first. Because of the very rare occurrence of this association the diagnosis of TTP is discussed according to the accepted criteria and taking into account the haematological complications which can reveal or be observed in Hodgkin's disease. No evident relationship between the two diseases can be suggested. But immunologic disorders observed in the two cases suggests that their coexistence is not necessarily accidental. The evolution of these two diseases is particularly good.
Asunto(s)
Enfermedad de Hodgkin/complicaciones , Púrpura Trombocitopénica Trombótica/complicaciones , Adulto , Antineoplásicos/administración & dosificación , Quimioterapia Combinada , Femenino , Enfermedad de Hodgkin/diagnóstico , Enfermedad de Hodgkin/tratamiento farmacológico , Humanos , Prednisona/uso terapéutico , Púrpura Trombocitopénica Trombótica/diagnóstico , Púrpura Trombocitopénica Trombótica/tratamiento farmacológicoRESUMEN
A comparative study of platelet count and platelet volume distribution was performed on whole blood (Coulter counter S+) or platelet rich plasma (Thrombo Coulter and Coulter ZBI + Channelyser C 1 000). With the exception of severe thrombocytopenia the results of platelet counts obtained with the coulter S + were very reproducible (CV less than 4%) and a good correlation was observed between results obtained on whole blood and on platelet rich plasma (PRP). The mean platelet volume (MPV) was significantly higher in whole blood than in PRP, but the difference was very slight, suggesting that platelet volume distribution in PRP and in whole blood are similar. In whole blood collected in EDTA MPV increased significantly during the 2 hours after blood collection and then reached a plateau. This finding underlines the need for a standard technique. Preliminary results obtained with the Coulter S + in 86 diabetic patients and in 73 unselected control subjects demonstrated a significant increase of MPV and of the index of platelet distribution (IDP) given by the apparatus, without modification of platelet count in diabetics. These results could suggest a compensated increased platelet consumption in the circulating blood.