Encephalocele, Polycystic Kidneys, and Polydactyly With Other Defects

Abstract

Meckel syndrome, which is diagnosed by 2 of 3 main congenital malformations such as an occipital encephalocele, polycystic kidneys, and polydactyly, is an autosomally inherited recessive disease. We have experienced a case of Meckel syndrome and performed necropsy. Necropsy findings revealed multiple congenital malformations with occipital meningo‐encephalocele and agenesis of the cerebellum, 6 digits on the hands and feet, polycystic kidneys. The criteria of Meckel syndrome is still unclear. We propose that the diagnosis of this syndrome may be accompanied by the presence of all triad of main malformations. Ninety four cases satisfying this criteria have been reported in the world literature. Several discussion were made from a review of the literature.