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: Robert A Saul, Virginia Proud, Harold A Taylor, Jules G Leroy, Jurgen Spranger
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 135 Issue 3 Pg. 328-32 (Jun 15 2005) ISSN: 1552-4825 [Print] United States
• PMID: 15887289 (Publication Type: Case Reports, Journal Article)

Chemical References

• Cerebroside-Sulfatase
• beta-Galactosidase
• alpha-Mannosidase
• beta-Mannosidase
• Glucuronidase

Topics

• Cerebroside-Sulfatase (metabolism)
• Diagnosis, Differential
• Female
• Glucuronidase (metabolism)
• Humans
• Infant
• Lysosomes (enzymology)
• Metacarpus (abnormalities, diagnostic imaging)
• Mucolipidoses (diagnosis)
• Osteochondrodysplasias (diagnosis)
• Pregnancy
• Prenatal Diagnosis
• Radiography
• Spine (abnormalities, diagnostic imaging)
• alpha-Mannosidase (metabolism)
• beta-Galactosidase (metabolism)
• beta-Mannosidase (metabolism)