Abstract
BackgroundGlycogen storage disease type II (GSDII) or Pompe disease is a rare autosomal recessive metabolic disorder that leads to intracellular glycogen storage in many tissues, mainly in skeletal muscle, heart and liver. Facial muscle weakness and altered craniofacial growth are very common in Pompe disease children. In this paper we describe the orofacial features in two children affected by GSDII and illustrate a multidisciplinary approach that involved enzyme replace therapy, non-invasive ventilation (NIV) and pediatric dentistry with 5-year follow-up.ResultsTwo Infantile Pompe Disease children were examined by a pediatric dentist at the age of 4 and 5 years old respectively. The orofacial examination showed typical facies with similar features: hypotonia of facial and tongue muscles, lip incompetence, narrow palate with reduction in transversal dimension of the upper dental arch, macroglossia, low position of the tip of the tongue, concave profile, Class III malocclusion with hypoplasia of maxillary-malar area and mandibular prognathism. Myofunctional therapy and orthodontic treatment consisted in oral muscle exercises associated to intraoral and extraoral orthodontic devices. NIV facial mask was substituted with a nasal pillow mask in order to avoid external pressure on the mid-face which negatively influences craniofacial growth.ConclusionsThis paper evidences that the pediatric dentist plays an important role in craniofacial growth control, oral function rehabilitation and, therefore, in the improvement of the quality of life of Pompe children and their families. Therefore an early pediatric dental evalutation should be included in the multidisciplinary management of children suffering from Infantile Pompe Disease.
Highlights
Glycogen storage disease type II (GSDII) or Pompe disease is a rare autosomal recessive metabolic dis‐ order that leads to intracellular glycogen storage in many tissues, mainly in skeletal muscle, heart and liver
Glycogen storage disease type II (GSDII) or Pompe Disease (PD) is a rare autosomal recessive metabolic disorder caused by a deficiency of lysosomal enzyme, acid α-glucosidase (GAA), leading to intracellular glycogen storage in many tissues, mainly in skeletal muscle, heart
Case 1 A 3-month-old boy was initially admitted at the Bambino Gesù Children’s Research Hospital (Rome, Italy) for severe hypotonia, splenomegaly, growth arrest and cardiomegaly. He was the second-born of non-consanguineous healthy parents at 37 weeks from an uneventful pregnancy, his birth weight was 3200 g, head circumference was 41 cm and length was 50 cm, APGAR index was 6/8. He was diagnosed with classic Infantile-Onset Pompe Disease (IOPD) based on the measurement of Acid α-glucosidase (GAA) enzyme activity in leukocytes (0.26 nmol/mg prot/h n.v. 10–40) and further confirmation of gene mutations by molecular analysis of GAAgene
Summary
Glycogen storage disease type II (GSDII) or Pompe disease is a rare autosomal recessive metabolic dis‐ order that leads to intracellular glycogen storage in many tissues, mainly in skeletal muscle, heart and liver. Glycogen storage disease type II (GSDII) or Pompe Disease (PD) is a rare autosomal recessive metabolic disorder caused by a deficiency of lysosomal enzyme, acid α-glucosidase (GAA), leading to intracellular glycogen storage in many tissues, mainly in skeletal muscle, heart. The non-classic IOPD usually appears within the first year of life with motor delays and/or slowly progressive muscle weakness, the cardiomyopathy can be present, but less severe than classic IOPD [2]. Hepatomegaly, macroglossia, failure to thrive are often developed This typical clinical presentation leads immediately to diagnosis. Untreated patients with IOPD follow a rapidly progressive and fatal course within first years of life [3]
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