RESUMO
Patients with an imperforate anus frequently present with congenital abnormalities, most commonly as a component of VACTERL (Vertebral anomalies, Anorectal malformations, Cardiac defect, Tracheo-Oesophageal fistula and Oesophageal atresia, Renal anomalies, and Limb defects) anomalies. It is, however, unusual for infants to present with a concurrent anorectal malformation (ARM) and a Bochdalek type diaphragmatic hernia. We describe an infant with an ARM and a delayed presentation of a right-sided Bochdalek type diaphragmatic hernia. In this case, the Bochdalek type diaphragmatic hernia presented 10 months after a laparoscopic-assisted anorectal plasty was performed. Despite both ARM and congenital diaphragmatic hernia known to be associated with other congenital malformations, the association of these particular congenital abnormalities in an individual patient is uncommon.
Assuntos
Malformações Anorretais , Cardiopatias Congênitas , Hérnias Diafragmáticas Congênitas , Malformações Anorretais/complicações , Malformações Anorretais/cirurgia , Esôfago/anormalidades , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/complicações , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/cirurgia , Humanos , Lactente , Coluna Vertebral/anormalidades , Traqueia/anormalidadesRESUMO
Delayed presentation of oesophageal atresia (OA) with a tracheo-oesophageal fistula (TOF) is rare. Only a few case reports and two larger case series have been published. We present a neonate who was referred to our unit on day 14 of life with a missed OA and a TOF, having survived without any feeds or total parenteral nutrition up until referral.We concluded that although such a delayed presentation is rare and avoidable, it does occur. This case highlights the necessity of good feedback to the referral hospitals with education on how to prevent this from recurring again. It also emphasises the necessity of a comprehensive clinical examination of all newborn babies. A high index of suspicion for OA with or without a TOF is essential in all babies with clinical drooling, feeding problems (from the first feed) and/or respiratory symptoms especially if combined with antenatal polyhydramnios.