A case of mucolipidosis II / manifested as chondrodysplasia punctata in a second trimester fetus

Abstract

The case of mucolipidosis II / in a second trimester fetus is presented. At the ultrasound examination at 20 weeks of gestation intrauterine growth restriction, abnormal profile with flattened nose, polyhydramnios and premature maturation of the placenta were detected. Autopsy subsequent to the termination of pregnancy revealed intrauterine growth restriction, shortening of the lower limbs, pronounced facial dysmorphism. The radiograph showed a significant shortening of the long tubular bones, sclerosis of the skull base, reduced mineralization of the bones of the facial skull, calcifications in the vertebral bodies of the cervical and sacral spine, proximal epiphysis of the left humerus and femurs, heel and talus. Microscopic examination of the placenta revealed pale-colored villi with diffuse pronounced vacuolization of syncytiotrophoblast cells, Hofbauer — Kashchenko cells, and unvillous trophoblast, focal calcification of the basement membranes of the villi in the form of linear deposits. A molecular genetic study revealed a compound heterozygous carriage of the mutations p.Asp919GlufsTer21 and p.Arg1189Ter in 14 and 19 exons of the GNPTAB gene and the diagnosis mucolipidosis II alpha/beta was established.