RESUMO
BACKGROUND: Subacute sclerosing panencephalitis (SSPE) is a chronic and debilitating disease of the central nervous system caused by a latent measles virus infection. Three candidate genes, MxA, IL-4, and IRF-1 genes were shown to be associated with SSPE in Japanese patients. These genes have been suggested to play a role in the establishment of persistent viral infection in the central nervous system. SUBJECTS AND METHODS: Sixty Filipino SSPE patients and 120 healthy control subjects were included in the study. Single nucleotide polymorphisms at promoter regions ( IL-4-590C/T and MXA-88G/T) were screened using PCR-RFLP method. Genotyping was done for GT repeat polymorphism within intron 7 of IRF-1. RESULTS: The TT genotype of MXA, as well as the CT genotype of IL-4, were seen a little more frequently among the SSPE patients as compared to the control subjects. The values though, did not reach statistical significance. IRF-1 analysis did not differ between the two groups. CONCLUSION: Our study failed to demonstrate a significant association between IL-4, MXA, or IRF-1, and SSPE in the Filipino population. Our results might be explained by a greater contribution of environmental factors such as the socio-economic and nutritional factors in the susceptibility of Filipinos to SSPE other than genetic factors.
Assuntos
Proteínas de Ligação ao GTP/genética , Fator Regulador 1 de Interferon/genética , Interleucina-4/genética , Panencefalite Esclerosante Subaguda/genética , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Análise Mutacional de DNA/métodos , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Vírus do Sarampo/patogenicidade , Proteínas de Resistência a Myxovirus , Filipinas/epidemiologia , Polimorfismo de Fragmento de Restrição , RNA Mensageiro/metabolismo , Estudos Retrospectivos , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Panencefalite Esclerosante Subaguda/sangueRESUMO
AIM: To provide information on the current status of West syndrome (WS) in the Philippines. METHODS: This is a retrospective review of WS cases from January 1997 to December 1999 from two largest referral government institutions. A questionnaire interview survey on anticonvulsant usage was also conducted among practicing child neurologists. RESULTS: Twelve patients diagnosed to have infantile spasms at 2-15 months were included, with a male:female ratio of 1:1. The proportion of WS cases among epileptic children under age 3 was 3.18%. The etiologies were idiopathic/cryptogenic in four (33%) and symptomatic in eight (66%). Symptomatic cases include hypoxic-ischemic encephalopathy, neonatal sepsis, bacterial meningitis, inborn error of metabolism, congenital brain anomaly and intracranial hemorrhage. Phenobarbital was the first line drug in 75% of cases. Other drugs used were valproic acid, clonazepam and pyridoxine. With a follow-up duration of 1-40 months, only three patients became seizure free and most had poor neurodevelopmental outcome. Among practicing child neurologists, the preferred ideal drug was adrenocorticotrophic hormone (ACTH) and valproic acid for idiopathic and symptomatic cases, respectively. However, in actual clinical practice valproic acid or prednisone was the initial drug used. Pyridoxine was usually added on. CONCLUSIONS: The proportion of WS in our patient population may not reflect the true prevalence in our country since our data came from a biased population, i.e. referral centers. A national statistics is currently not available. ACTH, which was perceived by most child neurologists as the ideal first line drug was not used primarily because it is unavailable and unaffordable. The poor seizure control and developmental outcome may be due to the treatment given or directly related to the etiology of WS.
