RESUMO
No disponible
Assuntos
Humanos , Masculino , Recém-Nascido , Reações Falso-Negativas , Triagem Neonatal/instrumentação , Triagem Neonatal/métodos , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/epidemiologia , Doenças em Gêmeos/diagnóstico , Diagnóstico Precoce , Cintilografia/métodos , Doenças da Glândula Tireoide/diagnóstico , Doenças da Glândula Tireoide/tratamento farmacológico , Glândula Tireoide/anormalidades , Glândula Tireoide , Glândula Tireoide/patologiaRESUMO
No disponible
Assuntos
Humanos , Feminino , Recém-Nascido , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , 3-Hidroxiesteroide Desidrogenases/análise , 3-Hidroxiesteroide Desidrogenases/deficiência , Triagem Neonatal/instrumentação , Triagem Neonatal/tendências , Triagem Neonatal/métodos , Triagem Neonatal , Hipertrofia/complicações , Hipertrofia/diagnóstico , Diferenciação Sexual/fisiologia , Gonadotropina Coriônica , Mutagênese/fisiologiaAssuntos
17-alfa-Hidroxiprogesterona/sangue , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Erros de Diagnóstico , Transtorno 46,XY do Desenvolvimento Sexual/genética , Mutação de Sentido Incorreto , Triagem Neonatal , Mutação Puntual , Progesterona Redutase/genética , Anormalidades Múltiplas/genética , Hiperplasia Suprarrenal Congênita/sangue , Hormônio Adrenocorticotrópico/farmacologia , Gonadotropina Coriônica/farmacologia , Transtorno 46,XY do Desenvolvimento Sexual/sangue , Transtorno 46,XY do Desenvolvimento Sexual/diagnóstico , Heterozigoto , Hormônios/sangue , Humanos , Recém-Nascido , Masculino , Testículo/efeitos dos fármacos , Testículo/metabolismo , Testosterona/deficiência , Testosterona/metabolismoAssuntos
Hipotireoidismo Congênito/diagnóstico , Doenças em Gêmeos/diagnóstico , Transfusão Feto-Fetal , Doenças do Prematuro/diagnóstico , Triagem Neonatal , Testes de Função Tireóidea , Hormônios Tireóideos/sangue , Tireotropina/sangue , Hipotireoidismo Congênito/sangue , Hipotireoidismo Congênito/tratamento farmacológico , Diagnóstico Tardio , Reações Falso-Negativas , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/sangue , Doenças do Prematuro/tratamento farmacológico , Masculino , Gravidez , Tiroxina/uso terapêutico , Gêmeos DizigóticosRESUMO
OBJECTIVE: To report our findings from a sample of narcoleptic children and adolescents evaluated in our unit from 1988 to 2005. PATIENTS AND METHODS: The sample was composed of nine children (5 boys) with a mean age of 14.5 years at diagnosis. The protocol included the following: Epworth, Ullanlinna narcolepsy scale, and Stanford cataplexy questionnaires; physical, psychological and neurological examinations; neuroimaging; PSG+MSLT recordings; HLA and in two cases Hcrt-1 level in CSF. RESULTS: Narcolepsy was sporadic in all cases. The first symptom was EDS with a mean age at onset of 9.4±2.5 years (range 6-13 years). All patients complained of cataplexy. Other symptoms were hypnagogic hallucinations (4 children) and sleep paralysis (3 children). All the children performed poorly at school, 4 had emotional disorders with depression, 4 displayed nocturnal eating and weight gain. Mean BMI was 25.0 kg/m(2). One girl was diagnosed as having precocious puberty, polycystic ovary syndrome (PCOS), hyperandrogenism and insulin resistance. The MRI showed a partial empty sella. Hcrt-1 was undetectable in her CSF. The mean Ullanlinna score was 24.6; PSG showed disturbed nocturnal sleep and the MSLT showed a mean sleep latency of 2.1 min and 3 SOREMPs. Eight children were DR2-DQ1-positive, whereas one boy was DR2-negative but DQ1-positive. In two patients, Hcrt-1 was undetectable. All children, in addition to scheduled naps during the day, were treated with modafinil or methylphenidate combined with an antidepressant and in two cases with sodium oxybate. CONCLUSION: NC was sporadic in all children and associated with precocious puberty and PCOS, hyperandrogenism and insulin resistance in one case. EDS, cataplexy, disturbed nocturnal sleep, nocturnal eating, poor school performance, and emotional disorders were the principal complaints. All patients had DQB1∗0602 and Hcrt-1 was evaluated in two cases (undetectable in both).
