Oral Findings in a Patient with Pompe Disease: A Case Report Case of oral findings in Pompe disease

Abstract

Background: : Pompe disease, also called glycogen storage disease type II, is a rare metabolic disease due to deficiency of acid alpha-glucosidase enzyme leading to accumulation of lysosomal glycogen within the tissues. Pompe disease can be classified into infantile and late-onset according to the age of onset. Clinical features include cardiomegaly, muscle weakness, hepatomegaly, recurrent pneumonia and dysphagia. Orofacial features include facial hypotonia, midface hypoplasia and mandibular prognathism, macroglossia, gingival hyperplasia, taurodontism, fusion of primary incisors and delayed eruption.

Case Presentation: A 7-year-old boy presented with complaints of several missing teeth. On general physical examination, the patient was hyperactive with an ataxic gait. Intraorally, oligodontia of the primary dentition, macroglossia and mild ankyloglossia were found. An orthopantomogram, however, revealed the presence of permanent tooth buds. The patient was counselled and extraction of a mobile, necrosed and retained primary tooth (71) was done.

Conclusion: Effective diagnosis and treatment of patients with Pompe disease requires a multidisciplinary team approach.