RESUMEN
We discuss two cases of Hanhart syndrome, diagnosed at 3 days and 4 months respectively. Minimal diagnostic criteria (micrognathia and peromelia) are reported, and various etiologic hypothesis are discussed. This syndrome includes others as: aglossia-adactylia, hypoglossia-hypodactylia, oro-acral, oro-mandibular-limb-hipogenesis, ankyloglosia superior, glossopalatine ankylosis, peromelia and micrognathia. Emphasize the impossibility of prevention; the patients may die because of food aspiration, both parents an children being subsidiary of psychological support. The possibilities of logopedical treatment and prothesis of peromelic limb must be evaluated.
Asunto(s)
Anomalías Múltiples/genética , Ectromelia/complicaciones , Disostosis Mandibulofacial/complicaciones , Ectromelia/genética , Dedos/anomalías , Humanos , Recién Nacido , Masculino , Disostosis Mandibulofacial/genética , Micrognatismo/complicaciones , Micrognatismo/genética , Síndrome , Lengua/anomalíasRESUMEN
Twelve brain death diagnosed children have been retrospectively surveyed. Their age ranged between seven months and thirteen years (mean = 5.7 years old). Etiology was as follows: eight of cranial trauma, two of ground-trapped asphyxia, one of hypernatremic dehydration ans one of subglottic laryngitis. When a brain death diagnosis was suggested, neurodiagnosis complementary tests were carried out eight cases presented an isoelectric EEG since the first recording and their evoked potentials did no reflect any response. Among the eight children to whom brain angiogammography was made, five presented no flow in the first study. Brain circulation signs were detected in two other children, disappearing subsequently. When the EEG was isoelectric, positive responses were never obtained from the brainstem. However, flow was detected in two cases. We suggest that, in doubtful cases, absence of brain radioisotopic activity is the most specific way to assess brain death in children.