摘要：Mucolipidosis type II (MLII, MIM 252500 ) is a lysosomal storage disorders caused by defects in GNPTAB gene which encodes alpha and beta subunits of N -acetylglucosamine (GlcNAc)-1-phosphotransferase. Neonatal presentation includes coarse facial features, restricted postnatal growth, generalized hypotonia, gingival hypertrophy and multiple skeletal anomalies. Here we present a case of a 26-week gestational age preterm infant with MLII who did not exhibit the typical facial features at birth; however, the diagnosis was suggested from abnormal placental pathology showing trophoblastic lipidosis and initial skeletal abnormalities from chest radiograph revealing generalized diffuse severe bone demineralizing disease and multiple fractures. Biochemical testing revealed elevation of plasma lysosomal enzymes. Homozygous pathogenic variant, designated c.3505_3504del, was discovered from GNPTAB sequencing. Her course was complicated by respiratory distress, secondary hyperparathyroidism, abdominal distention and feeding difficulties. Urine mucopolysaccharides analysis revealed mild elevation of total and individual glycosaminoglycan species in a non-specific pattern. To our knowledge, our case is the most premature example of mucolipidosis type II that has ever been reported to date. This report highlights the importance of placental pathological studies in the diagnosis of lysosomal storage disorders.
关键词：Mucolipidosis type II ; GNPTAB -related disorders ; Trophoblastic lipidosis
