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J Craniofac Surg. 2005 Jan;16(1):45-52.

Unusual oral manifestations and evolution in glycogen storage disease type Ib.

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  • 1Division of Oral Maxillofacial Pathology, Department of Oral Medicine and Diagnostic Sciences, and Dental and Stomatologic Clinic of Novara, Dental School, University of Eastern Piedmont-Novara, Novara, Italy.


Glycogen storage disease type Ib is a rare inherited metabolic disorder that is caused by a deficiency of glucose-6-phosphate translocase with consequent accumulation of glycogen. The purpose of this study is to report a case affected by glycogen storage disease type Ib in which unusual oral findings were evident and to review the pertinent literature. The disease presents with failure to thrive, hepatomegaly, hypoglycemia, hyperlacticacidemia, neutropenia, and neutrophilic dysfunction causing increased susceptibility to recurrent infections. Common intraoral manifestations are dental caries, gingivitis, periodontal disease, delayed dental maturation and eruption, oral bleeding diathesis, and oral ulcers. Conversely, unusual oral lesions were observed in this case as hyperplastic-hypertrophic gingiva and giant cell granulomatous epulis. The treatment with granulocyte colony-stimulating factor markedly increased the neutrophil counts and reduced the frequency of infections and inflammations. Proper evaluation of the patient's oral condition, a program of preventive measures, and suitable medical consultation are important to minimize and avoid long-term complications.

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