Pediatric Dental Management of an Uncommon Case of Mucopolysaccharidosis Type IV A (Morquio A Syndrome): A Case Report of a Three-Year Follow-Up

Abstract

Mucopolysaccharidosis type IV A or Morquio syndrome is an uncommon inherited metabolic condition caused by the deficient intralysosomal storage of glycosaminoglycans. Diagnosis is typically based on clinical examination, skeletal radiographs, and histochemical tests in blood cells or fibroblasts. It is characterized by evident skeletal deformities, poor joint mobility, severe growth deficit, occlusal anomalies, and enamel defects. The aim of the present clinical case report is to describe the general oral management provided to a 6-year-old female patient and its corresponding evolution for more than three years.

Mucopolysaccharidosis (MPS): Review of the literature and case series of five pediatric dental patients

“…5 Deficiency of GALNS may result in the pathological accumulation of keratin sulfate and chondroitin 6-sulphate in the lysosomes of ameloblasts during the secretory stage of amelogenesis. 5,6 It is anticipated that glycosaminoglycans, namely keratin sulfate act as a matrix for cohesive attachment between enamel and dentine. 6 Malocclusions can also be a presenting feature in MPS patients.…”

“…5,6 It is anticipated that glycosaminoglycans, namely keratin sulfate act as a matrix for cohesive attachment between enamel and dentine. 6 Malocclusions can also be a presenting feature in MPS patients. Studies present a range of skeletal class I, II, and III malocclusions.…”

“…The direct effects of deficiency of N‐acetyl‐galactosamine‐6‐sulfatase (GALNS) in Morquio A syndrome are expected to be the causative mechanism of enamel defects 5 . Deficiency of GALNS may result in the pathological accumulation of keratin sulfate and chondroitin 6‐sulphate in the lysosomes of ameloblasts during the secretory stage of amelogenesis 5,6 . It is anticipated that glycosaminoglycans, namely keratin sulfate act as a matrix for cohesive attachment between enamel and dentine 6 …”

Candidate genes for obstructive sleep apnea in non-syndromic children with craniofacial dysmorphisms – a narrative review

“…Mucopolysaccharidosis (MPS) is a metabolic disorder characterized by the deficiency or total absence of enzymes responsible for the degradation of glycosaminoglycans. It can be classified into 7 types based on the specific malfunctioning enzyme and clinical manifestations ( 147 ). The Morquio syndrome (MPS IV) can be caused by a mutation either in the N-acetylgalactosamine-6-sulfatase ( GALNS ) gene (MPS type IVA), or in the gene for galactosidase beta 1 ( GLB1 ; MPS type IVB).…”

“…Some polymorphisms in NDN were determined in extremely obese German children and adolescents as well as in neonates examined by polysomnography. However, there was a lack of association with juvenile-onset human obesity or sleep and respiratory parameters (145,146).…”