RESUMO
A case of a 3-year-old boy with severe haemophilia A who had a successful neurosurgical drainage of a combined spontaneous left temporal subdural and intra-parenchimal haematoma is reported. Surgical intervention was required because of clinical worsening during conservative treatment with dexamethasone and factor VIII (FVIII) replacement therapy. Continuous FVIII infusion was given before, during and after the procedure. There were no surgical complications and neurological examination remains intact. Neurosurgical interventions may be reserved for special, high-risk cases, as the one presented.
Assuntos
Hematoma Subdural/cirurgia , Hemofilia A/complicações , Hemorragias Intracranianas/cirurgia , Procedimentos Neurocirúrgicos/métodos , Pré-Escolar , Fator VIII/administração & dosagem , Humanos , Infusões Intravenosas , Masculino , Fatores de Risco , Tomografia Computadorizada por Raios XRESUMO
As HIV seropositive patients with undetectable CSF viral load have a lower likelihood of developing neurologic disease, the determination of CSF viral load levels may be useful to evaluate the efficacy of HAART. We compared plasma viral load levels with HIV-1 RNA CSF levels in 18 hemophilic patients without neurocognitive involvement under HAART. We detected a significant correlation between plasma viral load levels and CSF viral load levels. Fourteen patients with undetectable plasma viral load had undetectable RNA HIV-1 CSF levels as well. Four patients with detectable plasma viral load had detectable HIV-RNA in CSF, but the latter were significantly lower. Viral load is usually lower in non-blood fluids and HAART decreases the viral load in CSF as well as in blood.
Assuntos
Terapia Antirretroviral de Alta Atividade , Infecções por HIV/líquido cefalorraquidiano , HIV-1 , Hemofilia A/virologia , RNA Viral/líquido cefalorraquidiano , Carga Viral , Infecções por HIV/complicações , Infecções por HIV/tratamento farmacológico , Hemofilia A/sangue , Hemofilia A/líquido cefalorraquidiano , Humanos , RNA Viral/sangueRESUMO
As HIV seropositive patients with undetectable CSF viral load have a lower likelihood of developing neurologic disease, the determination of CSF viral load levels may be useful to evaluate the efficacy of HAART. We compared plasma viral load levels with HIV-1 RNA CSF levels in 18 hemophilic patients without neurocognitive involvement under HAART. We detected a significant correlation between plasma viral load levels and CSF viral load levels. Fourteen patients with undetectable plasma viral load had undetectable RNA HIV-1 CSF levels as well. Four patients with detectable plasma viral load had detectable HIV-RNA in CSF, but the latter were significantly lower. Viral load is usually lower in non-blood fluids and HAART decreases the viral load in CSF as well as in blood.
RESUMO
Intermediate and highly malignant non-Hodgkin and primary central nervous system lymphomas are marker diseases for AIDS. Cavum and oropharynx involvement by these tumors is uncommon. Although there are few cases reported in the literature, these may be primary localizations of the tumor. We present a hemophilic HIV+ patient with non-Hodgkin lymphoma of the cavum. The histologic diagnosis was high-grade, pleomorphic, centroblastic lymphoma. The patient was treated with chemotherapy plus intrathecal chemotherapy and highly active antiretroviral therapy (HAART). His evolution has been excellent. One year after diagnosis, the patient is asymptomatic with no evidence of residual tumor, and responding well to HAART.
Assuntos
Síndrome da Imunodeficiência Adquirida/complicações , Hemofilia A/complicações , Linfoma Relacionado a AIDS/diagnóstico , Linfoma não Hodgkin/diagnóstico , Neoplasias Nasofaríngeas/diagnóstico , Adulto , Humanos , Linfoma Relacionado a AIDS/complicações , Linfoma Relacionado a AIDS/tratamento farmacológico , Linfoma não Hodgkin/complicações , Linfoma não Hodgkin/tratamento farmacológico , Masculino , Neoplasias Nasofaríngeas/complicações , Neoplasias Nasofaríngeas/tratamento farmacológico , Tomografia Computadorizada por Raios XRESUMO
Intron 22 factor VIII gene inversion (Inv22) is the most common mutation causing severe haemophilia A (SHA). We studied Inv22 in 34 SHA affected families by Southern blotting. Data from the familial history of the disease and the inhibitor status were also included. We found Inv22 in 41 % of SHA Argentine families (35 % with type 1 and 6 % with type 2), in close agreement with previously reported series. No significant correlation between the inheritance (familiar or sporadic disease) and the presence of inversions was found. Our population showed 24 % of families included at least one hemophiliac with inhibitor. In families positive for Inv22, 29 % of patients developed inhibitor but this increased frequency was not statistically significant. In conclusion, analysis of Inv22 in SHA patients should be used as a first line method because it provides useful and secure information for carrier detection and prenatal diagnosis in a high percentage of cases.
Assuntos
Inversão Cromossômica , Fator VIII/genética , Hemofilia A/genética , Íntrons/genética , Argentina/epidemiologia , Southern Blotting , Sondas de DNA , Fator VIII/imunologia , Saúde da Família , Feminino , Frequência do Gene , Hemofilia A/epidemiologia , Hemofilia A/imunologia , Humanos , Isoanticorpos/sangue , Masculino , Polimorfismo de Fragmento de RestriçãoRESUMO
Intermediate and highly malignant non-Hodgkin and primary central nervous system lymphomas are marker diseases for AIDS. Cavum and oropharynx involvement by these tumors is uncommon. Although there are few cases reported in the literature, these may be primary localizations of the tumor. We present a hemophilic HIV+ patient with non-Hodgkin lymphoma of the cavum. The histologic diagnosis was high-grade, pleomorphic, centroblastic lymphoma. The patient was treated with chemotherapy plus intrathecal chemotherapy and highly active antiretroviral therapy (HAART). His evolution has been excellent. One year after diagnosis, the patient is asymptomatic with no evidence of residual tumor, and responding well to HAART.