Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities

Medicina (Kaunas). 2022 Jan 8;58(1):97. doi: 10.3390/medicina58010097.

PMID: 35056405

Federico Baronio, Stefano Zucchini, Francesco Zulian

Highlights: Following a consensus-based methodology, a multidisciplinary panel shared their experience on a possible clinical approach to the diagnosis of MPS Ia in children with short stature or stunted growth.

Abstract

Background and Objectives: Due to the rarity of the disease and the diversity in clinical presentation, diagnostic delay is prevalent in attenuated Mucopolysaccharidosis Type I (MPS Ia). Short stature and slowed growth are common in MPS Ia, but they rarely raise suspicion since pediatric endocrinologists are rarely trained to recognize the condition's earlier and milder clinical signs.

Materials and Methods: A multidisciplinary panel of pediatric endocrinologists, pediatricians with expertise in metabolic disorders, radiologists, and rheumatologists shared their experience on a possible clinical approach to the diagnosis of MPS Ia in children with short stature or stunted growth using a consensus-based methodology.

Results: As a result, an algorithm was developed to show how to raise the suspicion of MPS Ia in a patient older than 5 years old with short height and suggestive clinical symptoms.

Conclusion: The proposed approach could be a beneficial tool for improving pediatric endocrinologists' awareness and reducing diagnostic delays for MPS Ia patients.

Keywords: diagnostic algorithm, dysostosis multiplex, joint contractures, mucopolysaccharidosis, short stature