RESUMEN
Eventration of the diaphragm, most often an isolated entity and detected incidentally, has been known to be associated with several genetic syndromes. Authors report their experience of seeing diaphragmatic eventration in association with Poland syndrome and wandering spleen syndrome and briefly discuss the literature.
Asunto(s)
Anomalías Múltiples/diagnóstico , Niño , Eventración Diafragmática/diagnóstico , Femenino , Estudios de Seguimiento , Humanos , Masculino , Síndrome de Poland/diagnóstico , Radiografía Torácica , Factores de Riesgo , Tomografía Computarizada por Rayos XRESUMEN
Hyperekplexia is a rare, hereditary, non-epileptic disorder characterized by an exaggerated startle reaction to unexpected auditory, somatosensory and visual stimuli. The authors describe a one-day-old term neonate, who presented with jitteriness and episodic tonic spasms, and his elder sister with hyperekplexia. Hyperekplexia though is a rare disorder is one of the differential diagnoses for refractory tonic spasms in infancy. The prognosis is generally good in hereditary hyperekplexia. Recent molecular studies have revealed many associated mutations in the glycine receptor alpha and beta subunit genes.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Preescolar , Clonazepam/uso terapéutico , Femenino , Humanos , Recién Nacido , Masculino , Reflejo de Sobresalto/genética , Síndrome de la Persona Rígida/tratamiento farmacológicoRESUMEN
Residual ventricular septal defect after surgical repair for tetralogy of Fallot can occasionally be hemodynamically important requiring re-intervention. Transcatheter closure using ventricular septal defect devices is an attractive option for such defects. We describe two such cases where the Amplatzer duct occluder was used as an innovative, less costly alternative for closure of residual membranous ventricular septal defects. Complete occlusion of the residual ventricular septal defect with significant symptomatic improvement could be accomplished in both patients.
Asunto(s)
Adolescente , Oclusión con Balón/efectos adversos , Procedimientos Quirúrgicos Cardiovasculares , Niño , Angiografía Coronaria , Diagnóstico Diferencial , Ecocardiografía Transesofágica , Femenino , Defectos del Tabique Interventricular/diagnóstico , Humanos , Implantación de Prótesis/métodos , Tetralogía de Fallot/cirugíaRESUMEN
Jeune thoracic dystrophy is a rare autosomal recessive chondrodysplasia, first described by Jeune et al in 1955. Early death is usually the consequence of asphyxia with or without pneumonia. Here is reported a newborn with Jeune thoracic dystrophy and a right-sided diaphragmatic hernia.