Rett syndrome: clinical and epidemiological aspects in a Brazilian institution.

Rett syndrome (RS) is a neurodevelopmental disorder, preferentially found in females and specifically involving the functions on which intelligence and its expression depend--learning, hand use and speech--leaving many others intact. Mutations have been identified at Xq28 on the MECP2 gene (methyl-CpG 2), which selectively silences the expression of other genes whose location is still unknown. This is a study on clinical, diagnostic and epidemiological aspects of RS in a Brazilian sample. It included 33 female patients with chronic encephalopathy without known etiology. RS was diagnosed in 24 patients (72.7%): 17 (70.8%) had classical RS; 5 (20.8%), atypical RS and 2 (8.4%), potential RS. In 9 girls clinical data and/or laboratory studies excluded diagnosis of RS. Among the atypical RS patients, 4 were form fruste and one, congenital form. Among the girls with other encephalopathies, cerebral malformation was the most frequent finding.

[Central nervous system involvement by histoplasmosis as the unique manifestation of this disease in immunocompetent patients: presentation of two cases]. / Histoplasmose do sistema nervoso central como única manifestação da doença em pacientes imunocompetentes: apresentação de dois casos.

We present two patients with central nervous system involvement as the unique clinical manifestation of histoplasmosis. A clinical review confirmed the infrequency of this form of the disease, overall in childhood, being one of these cases the youngest in Brazilian reports. Comments about the diversity of clinical presentation and main differential diagnosis are presented. We analyze the serologic and cerebrospinal fluid results and, finally, discuss the drugs and duration of treatment.

Rett syndrome: clinical and epidemiological aspects in a Brazilian institution

Rett syndrome (RS) is a neurodevelopmental disorder, preferentially found in females and specifically involving the functions on which intelligence and its expression depend - learning, hand use and speech - leaving many others intact. Mutations have been identified at Xq28 on the MECP2 gene (methyl-CpG 2), which selectively silences the expression of other genes whose location is still unknown. This is a study on clinical, diagnostic and epidemiological aspects of RS in a Brazilian sample. It included 33 female patients with chronic encephalopathy without known etiology. RS was diagnosed in 24 patients (72.7 percent): 17 (70.8 percent) had classical RS; 5 (20.8 percent), atypical RS and 2 (8.4 percent), potential RS. In 9 girls clinical data and/or laboratory studies excluded diagnosis of RS. Among the atypical RS patients, 4 were form fruste and one, congenital form. Among the girls with other encephalopathies, cerebral malformation was the most frequent finding

Histoplasmose do sistema nervoso central como única manifestaçäo da doença em pacientes imunocompetentes: apresentaçäo de dois casos / Central nervous system involvement by histoplasmosis as the unique manifestation of this disease in immunocompetent patients: presentation of two cases

Apresentamos dois casos de histoplasmose em que o acometimento do sistema nervoso central foi a única manifestaçäo clínica da doença. Revisäo da literatura permitiu confirmar a raridade dessa forma de patologia, em particular em crianças, sendo o segundo caso aqui apresentado o de mais baixa idade na literatura nacional. Säo feitos comentários sobre a variedade das apresentaçöes clínicas e os principais diagnósticos diferenciais da doença. Säo discutidos os resultados laboratoriais, tanto em relaçäo às alteraçöes liquóricas quanto aos resultados sorológicos. Finalmente, é analisada a terapêutica dessa forma de infecçäo fúngica tanto em relaçäo aos medicamentos utilizáveis quanto à duraçäo prolongada aconselhável para o tratamento específico