Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 135A, Issue 3, Pages 328-332Publisher
WILEY
DOI: 10.1002/ajmg.a.30716
Keywords
mucolipidosis type II; I-cell disease; Pacman dysplasia; epiphyseal stippling; lethal short-limbed dwarfism; lysosomal storage disease
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Pacman dysplasia has been previously reported to be a lethal skeletal dysplasia with epiphyscal 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. (c) 2005 Wiley-Liss, Inc.
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