Case Reports
doi: 10.1002/ajmg.a.30716.
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia
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- PMID: 15887289
- DOI: 10.1002/ajmg.a.30716
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Case Reports
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia
Am J Med Genet A.
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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.
Comment in
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Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005].Am J Med Genet A. 2005 Jun 15;135(3):333. doi: 10.1002/ajmg.a.30717. Am J Med Genet A. 2005. PMID: 15887286 No abstract available.
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