Assuntos
Canal Anal/anormalidades , Cardiomiopatia Dilatada/patologia , Esôfago/anormalidades , Cardiopatias Congênitas/patologia , Doenças do Recém-Nascido/patologia , Rim/anormalidades , Deformidades Congênitas dos Membros/patologia , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Canal Anal/patologia , Esôfago/patologia , Humanos , Recém-Nascido , Rim/patologia , Coluna Vertebral/patologia , Traqueia/patologiaRESUMO
We report a case of VACTERL complex which had concomitant horseshoe lung, laryngeal cleft, and hypertrophic pyloric stenosis, which has not been previously reported.
Assuntos
Anormalidades Múltiplas/genética , Anormalidades do Sistema Digestório/genética , Cardiopatias Congênitas/genética , Laringe/anormalidades , Pulmão/anormalidades , Estenose Pilórica Hipertrófica/genética , Coluna Vertebral/anormalidades , Anormalidades Urogenitais/genética , Anormalidades Múltiplas/diagnóstico por imagem , Angiografia , Consanguinidade , Anormalidades do Sistema Digestório/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Cariotipagem , Laringe/diagnóstico por imagem , Pulmão/diagnóstico por imagem , Masculino , Fenótipo , Artéria Pulmonar/anormalidades , Artéria Pulmonar/diagnóstico por imagem , Veias Pulmonares/anormalidades , Veias Pulmonares/diagnóstico por imagem , Estenose Pilórica Hipertrófica/diagnóstico por imagem , Coluna Vertebral/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Turquia , Anormalidades Urogenitais/diagnóstico por imagemRESUMO
We report a newborn with hyperekplexia and uncontrolled tonic spasms which did not respond to intravenous phenobarbitone and phenytoin, and midazolam infusion. Serum biochemistry, electrocardiography, electroencephalography, lumbar puncture and neuroimaging were normal. Continuous cardiac monitoring revealed that tonic spasm episodes were accompanied by sinus node paucity and severe bradycardia. Duration and number of tonic spasm episodes decreased with clonazepam therapy, and she was discharged. At 4 months of age sudden infant death occurred. Sudden infant death could be related to the paucity of sinus node. Cardiac pacemaker implantation should be considered even if the medical treatment is successful.
Assuntos
Doenças do Sistema Nervoso/fisiopatologia , Reflexo Anormal , Reflexo de Sobressalto , Nó Sinoatrial/fisiopatologia , Eletrocardiografia , Evolução Fatal , Feminino , Humanos , Lactente , Recém-Nascido , Hipertonia Muscular/fisiopatologia , Doenças do Sistema Nervoso/diagnóstico , Convulsões/fisiopatologia , Morte Súbita do LactenteRESUMO
INTRODUCTION: Monosymptomatic nocturnal enuresis (MNE) is a frequent problem in children older than five years of age. Of the various treatment options, the enuresis alarm has been widely advocated for treating nocturnal enuresis. This study was designed to evaluate the success rates of the enuretic alarm device in patients with MNE. METHODS: 40 patients who had significant MNE (three or more wet nights per week) were included. They used an enuretic alarm for 12 weeks initially. If a relapse was observed, reusage of the device was provided. A success criterion was defined as "14 consecutive dry nights" and a relapse criterion was "more than one wet night a week". RESULTS: The patients' mean age was 8.1 (range 6-16) years and the mean follow-up time was 10.2 (range 6-19) months. 27 patients became dry at night at the end of three months. In the follow-up period, a relapse was observed in 66.7 percent of the initial responders. For recovery, 14 patients started to reuse the device, and seven of them responded positively. At the end of the treatment, a total of 13 of the patients had benefited from the enuretic alarm. CONCLUSION: During the follow-up, the enuretic alarm device provided acceptable initial and long-term complete dryness in patients with primary nocturnal enuresis. Without the need for expensive pharmacological intervention, the alarm treatment is an effective choice for children with nocturnal enuresis.