New recommendations for the care of patients with mucopolysaccharidosis type I.

Arch Argent Pediatr

Neurocirugía, Universidad de Buenos Aires (UBA), Servicio de Neurocirugía, Hospital "Prof. Dr. Juan P. Garrahan", ex presidenta de la International Society of Pediatric Neurosurgery (ISPN), medallista de Federación Latinoamericana de Sociedades de Neurocirugía (FLANC), 2018.

Published: April 2021

AI Article Synopsis

  • - Advances in mucopolysaccharidosis type I since a 2008 consensus study by Argentine experts were reviewed, focusing on genetic testing and monitoring various health aspects.
  • - Updated recommendations include cardiological follow-up, airway care, hearing impairment detection, and assessments of spinal and neurological conditions.
  • - The study highlights the importance of early diagnosis, treatment, and interdisciplinary care for better patient outcomes.

Article Abstract

Considering the advances made on mucopolysaccharidosis type I after the consensus study published by a group of experts in Argentina in 2008, recommendations about genetic testing, cardiological follow-up, airway care, hearing impairment detection, spinal and neurological conditions, as well as current treatments, were reviewed. Emphasis was placed on the need for early diagnosis and treatment, as well as an interdisciplinary follow-up.

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Source
http://dx.doi.org/10.5546/aap.2021.eng.e121DOI Listing

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