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Abstract：
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.
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.
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.
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.
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.
摘要：
糖原贮积病II型(GSDII)或Pompe病是一种罕见的常染色体隐性遗传代谢紊乱，导致细胞内糖原贮积在许多组织中，主要是骨骼肌，心脏和肝脏。面部肌肉无力和颅面生长改变在庞贝氏病儿童中非常常见。在本文中，我们描述了两个受GSDII影响的儿童的口面特征，并说明了一种涉及酶替代治疗的多学科方法，无创通气（NIV）和儿科牙科5年随访。
两名婴儿庞贝氏病儿童分别在4岁和5岁时由儿科牙医检查。口面部检查显示具有相似特征的典型相：面部和舌头肌肉的张力减退，嘴唇无能,上牙弓横向尺寸减小的窄腭，巨舌,舌尖的低位置，凹面轮廓,III类错牙合畸形伴上颌-颌骨区发育不全和下颌前突。肌功能疗法和正畸治疗包括与口腔内和口腔外正畸装置相关的口腔肌肉锻炼。用鼻枕面罩代替NIV面罩，以避免对中面部产生外部压力，这会对颅面生长产生负面影响。
本文证明，儿科牙医在颅面生长控制中起着重要作用，口腔功能康复和，因此,改善庞贝儿童及其家庭的生活质量。因此，早期的儿科牙科评估应包括在患有婴儿庞贝氏病的儿童的多学科管理中。
两名婴儿庞贝氏病儿童分别在4岁和5岁时由儿科牙医检查。口面部检查显示具有相似特征的典型相：面部和舌头肌肉的张力减退，嘴唇无能,上牙弓横向尺寸减小的窄腭，巨舌,舌尖的低位置，凹面轮廓,III类错牙合畸形伴上颌-颌骨区发育不全和下颌前突。肌功能疗法和正畸治疗包括与口腔内和口腔外正畸装置相关的口腔肌肉锻炼。用鼻枕面罩代替NIV面罩，以避免对中面部产生外部压力，这会对颅面生长产生负面影响。
本文证明，儿科牙医在颅面生长控制中起着重要作用，口腔功能康复和，因此,改善庞贝儿童及其家庭的生活质量。因此，早期的儿科牙科评估应包括在患有婴儿庞贝氏病的儿童的多学科管理中。
