title: Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia.
abstract: Pacman dysplasia has been previously reported to be a lethal skeletal dysplasia with epiphyseal stippling and osteoclastic overactivity. We report on a sibling of a fetus previously reported as Pacman dysplasia. This infant has a clinical course consistent with mucolipidosis type II (I-cell disease) along with confirmatory biochemical, cytologic, and radiographic evidence. This case expands the phenotypic spectrum of mucolipidosis type II. Having redefined the diagnosis in one of the original cases of Pacman dysplasia, we suggest that what is called Pacman dysplasia could very well be Mucolipidosis type II (ML-II) in other published reports.
authors.affiliation: Greenwood Genetic Center, Greenwood, South Carolina 29646, USA. rsaul@ggc.org
authors.forename: Robert A
authors.initials: RA
authors.lastname: Saul
authors.forename: Virginia
authors.initials: V
authors.lastname: Proud
authors.forename: Harold A
authors.initials: HA
authors.lastname: Taylor
authors.forename: Jules G
authors.initials: JG
authors.lastname: Leroy
authors.forename: Jurgen
authors.initials: J
authors.lastname: Spranger
mesh_terms: D002553:Cerebroside-Sulfatase / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D005966:Glucuronidase / Q000378:metabolism; D006801:Humans; D007223:Infant; D008247:Lysosomes / Q000201:enzymology; D008663:Metacarpus / Q000002:abnormalities / Q000000981:diagnostic imaging; D009081:Mucolipidoses / Q000175:diagnosis*; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D043323:alpha-Mannosidase / Q000378:metabolism; D001616:beta-Galactosidase / Q000378:metabolism; D044902:beta-Mannosidase / Q000378:metabolism
chemical_list: D002553:Cerebroside-Sulfatase; D001616:beta-Galactosidase; D043323:alpha-Mannosidase; D044902:beta-Mannosidase; D005966:Glucuronidase