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Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III.
Dentomaxillofac Radiol 2013; 42(4):22822014DR

Abstract

Mucolipidosis Type III, or pseudo-Hurler polydystrophy, is a rare genetic abnormality, the result of a mutation to one of two genes that encode the hexameric protein N-acetylglucosaminyl-1-phosphotransferase (Glc-NAc-PT). The abnormality results in the accumulation of unprocessed macromolecules in cell and tissue compartments throughout the body. In this case report, we describe the clinical and radiographic findings of a 15-year-old male with this disorder. He presented with bilateral ectopically developing mandibular molar teeth with enlarged follicles and multiple joint involvement, including the temporomandibular joints. The patient underwent surgical removal of the molar teeth and curettage of the associated follicles. The subsequent histopathological examination of the tissues revealed hyperplastic follicles suggestive of dentigerous cysts. This report presents the plain film and cone beam CT examinations of the patient.

Authors+Show Affiliations

Discipline of Oral and Maxillofacial Radiology, University of Toronto, Toronto, Canada.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22241869

Citation

Khalifa, H, et al. "Enlarged Follicles and Temporomandibular Joint Abnormalities in Mucolipidosis Type III." Dento Maxillo Facial Radiology, vol. 42, no. 4, 2013, p. 22822014.
Khalifa H, Grubisa HS, Lee L, et al. Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III. Dentomaxillofac Radiol. 2013;42(4):22822014.
Khalifa, H., Grubisa, H. S., Lee, L., & Lam, E. W. (2013). Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III. Dento Maxillo Facial Radiology, 42(4), p. 22822014. doi:10.1259/dmfr/22822014.
Khalifa H, et al. Enlarged Follicles and Temporomandibular Joint Abnormalities in Mucolipidosis Type III. Dentomaxillofac Radiol. 2013;42(4):22822014. PubMed PMID: 22241869.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III. AU - Khalifa,H, AU - Grubisa,H S, AU - Lee,L, AU - Lam,E W N, Y1 - 2012/01/12/ PY - 2012/1/14/entrez PY - 2012/1/14/pubmed PY - 2013/7/16/medline SP - 22822014 EP - 22822014 JF - Dento maxillo facial radiology JO - Dentomaxillofac Radiol VL - 42 IS - 4 N2 - Mucolipidosis Type III, or pseudo-Hurler polydystrophy, is a rare genetic abnormality, the result of a mutation to one of two genes that encode the hexameric protein N-acetylglucosaminyl-1-phosphotransferase (Glc-NAc-PT). The abnormality results in the accumulation of unprocessed macromolecules in cell and tissue compartments throughout the body. In this case report, we describe the clinical and radiographic findings of a 15-year-old male with this disorder. He presented with bilateral ectopically developing mandibular molar teeth with enlarged follicles and multiple joint involvement, including the temporomandibular joints. The patient underwent surgical removal of the molar teeth and curettage of the associated follicles. The subsequent histopathological examination of the tissues revealed hyperplastic follicles suggestive of dentigerous cysts. This report presents the plain film and cone beam CT examinations of the patient. SN - 0250-832X UR - https://www.unboundmedicine.com/medline/citation/22241869/Enlarged_follicles_and_temporomandibular_joint_abnormalities_in_mucolipidosis_Type_III L2 - http://www.birpublications.org/doi/full/10.1259/dmfr/22822014?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -