Glycogen Storage Disease type Ib: a paediatric case report.

This paper addresses the need of the dental literature to document cases of Glycogen Storage Disease (GSD) type Ib with focus on the paediatric management of oral and dental problems and the potential complications arising from the increased susceptibility to bacterial infections, cariogenicity, and blood diathesis. Previous medical and dental papers on GSD type Ib published from 1980 to 2006 have been searched in the electronic databases PubMed and EMBASE using keywords of the NLM's Thesaurus, with the aim to retrieve important implications of treatment and preventive measures for an evidence-based multidisciplinary medical and dental management of the oral health problems of a 9-year old boy affected by GSD type Ib. Oral and dental manifestations observed during a period of two years and relative treatments are reported from our case. Data on pharmacologic, oral hygienic, dietary, and surgical preventive measures for the control of recurrent oral infections, dental caries, gingival inflammation and risk of surgical bleeding are described. In addition, an electronic microscope structural analysis at SEM of the enamel tooth surface was conducted to identify any characteristic difference in the enamel architecture of this GSD type Ib affected patient compared with the normal enamel structure. The oral manifestations of our case included uncommon findings such as multiple deep oral ulcers of the tongue, labial and vestibular mucosa, which could be related with a severe impairment of the neutrophil-related immune system of the patient. At SEM, the enamel of the deciduous teeth showed dark spots of hypomineralisation which are the first published data of an enamel-related susceptibility to dental caries. The quality of life of our patient increased thanks to the oral and dental treatments and preventive oral health measures given at clinical appointments. The dentist should be prepared to face the possible complications of surgery in these patients and the hospital setting seems to allow for this clinical safety.