Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children

Abstract

Background Glycogen 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. Results Two 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. Conclusions This 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.

Mask interfaces and devices for home noninvasive ventilation in children

“…It has been described more than 20 years ago, but still represents a major concern which needs to be further addressed. [94][95][96][97][98] Children should undergo regular evaluations of the maxillamandibular growth, with early referral to pediatric orthodontists and maxillo-facial specialists, in those requiring NIV for a long time period and in children at risk of major facial deformities. 98 An early and regular orthodontic surveillance, with cephalometric radiography, may allow to propose the best strategies to avoid or treat the facial deformities.…”

Enfermedad de Pompe

“…Fortunately, we have adequate methods for the diagnosis and follow-up, and enzyme replacement therapy that have significantly modified the clinical course of the disease and its mortality. hipertrofia del ventrículo izquierdo con infrecuente progresión a insuficiencia cardiaca [8][9][10][11] .…”

“…La EP es una enfermedad rara, con una incidencia de menos de 1 por cada 100,000 recién nacidos 1,8 . La incidencia varía según los grupos poblacionales:…”

Inborn errors of metabolism and their impact in paediatric dentistry

“…[30][31][32] This can affect mastication and swallowing capacity as well as predisposing to an increased lower face height, high Frankfort-mandibular plane angle (FMPA) and constricted maxillary arches. 4,33 Comparatively, GSD V, caused by defects in the PYGM gene (glycogen phosphorylase, muscle associated) results in an inability of myophosphorylase to break down glycogen in muscle cells leading to fatigue, myalgia, and cramps during exertion. Masticatory muscle symptoms such as myalgia, myofascial pain and challenges in mastication are therefore commonly reported in GSD V. 4 1.1.6 | Glycogen storage disorder Ib (GSD Ib) Glycogen storage disorder Ib (GSD Ib) is of explicit importance to paediatric dentists and is attributable to mutations in the SLC37A4 gene, encoding glucose-6-phosphate translocase.…”

“…Subsequent tongue weakness is a well‐recognised feature of GSD II, with studies ranging from a prevalence of 45–100% 30–32 . This can affect mastication and swallowing capacity as well as predisposing to an increased lower face height, high Frankfort‐mandibular plane angle (FMPA) and constricted maxillary arches 4,33 . Comparatively, GSD V, caused by defects in the PYGM gene (glycogen phosphorylase, muscle associated) results in an inability of myophosphorylase to break down glycogen in muscle cells leading to fatigue, myalgia, and cramps during exertion.…”