Fetus with asymmetric parietal encephalocele, and hydrops secondary to laryngeal atresia

Abstract

We describe a fetus with an asymmetric, nonmidline, parietal encephalocele that appeared to result from "expulsion" through the center of the membranous bone; the fetus also had laryngeal atresia, which caused pulmonary overdistension (fetal Valsalva maneuver) with consequent hydrops fetalis. A common cause and clear pathogenetic relationship between these anomalies is not apparent.

Laryngeal atresia, encephalocele, and limb deformities (LEL): a possible new syndrome

“…The features described in this case are very similar to those we describe, although limb abnormalities were less severe and no renal abnormality was found in our case, whereas in the case described by Machin et al 1 there was a horseshoe kidney.…”

“…However, the major differential diagnosis is bilateral congenital cystic adenomatoid malformation type II or III, which was considered as a working diagnosis in several reported cases of laryngeal atresia 67 In this regard, another case with some manifestations in common with the case described here and that of Machin et al 1 was recently reported 8. This case had an anterior encephalocele with type II congenital adenomatoid cystic malformation.…”

“…In 1987, Machin et al 1described a fetus with a similar range of anomalies, including laryngeal atresia, an asymmetrical left midparietal encephalocele, and limb anomalies (see table 1). The features described in this case are very similar to those we describe, although limb abnormalities were less severe and no renal abnormality was found in our case, whereas in the case described by Machin et al 1 there was a horseshoe kidney.…”

“…Machin et al 1 suggested that lung fluid accumulation secondary to laryngeal atresia resulted in raised intrathoracic pressure, which may have been transmitted to the cranium and have led to the “expulsion” of the encephalocele. No explanation was given for the associated limb anomalies, although if the marked abdominal and thoracic distension were to cause disruption of vascular flow to the limbs this could result in the anomalies seen.…”

“…Editor —In 1987, Machin et al 1 reported a case of laryngeal atresia in association with an asymmetrical parietal encephalocele and limbs anomalies. Other anomalies included a horseshoe kidney and immature, low set ears.…”