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Prenatal mucolipidosis type II (I‐cell disease) can present as Pacman dysplasia
Author(s) -
Saul Robert A.,
Proud Virginia,
Taylor Harold A.,
Leroy Jules G.,
Spranger Jurgen
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30716
Subject(s) - mucolipidosis , dysplasia , medicine , fetus , pathology , biology , genetics , pregnancy , biochemistry , enzyme
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. © 2005 Wiley‐Liss, Inc.