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Pediatrics6 papers

Hunter's syndrome, severe form

Last edited: 4/16/2026

Overview

Hunter's syndrome, also known as Mucopolysaccharidosis II (MPS II), is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase (IDS) enzyme, leading to the accumulation of glycosaminoglycans (GAGs) such as dermatan sulfate and heparan sulfate 1. This results in multisystem involvement including skeletal, cardiovascular, respiratory, and central nervous system manifestations, with severe forms presenting early in childhood with rapid progression 1.

Diagnosis

  • Clinical Presentation: Characteristic facial features, short stature, joint stiffness, and progressive neurological decline 1.
  • Biochemical Testing: Elevated levels of GAGs in urine, particularly dermatan sulfate 1.
  • Enzyme Assay: Deficient IDS activity in leukocytes or fibroblasts confirms the diagnosis 1.
  • Genetic Testing: Identification of mutations in the IDS gene 1.

    • Management

  • Enzyme Replacement Therapy (ERT): Imiglucerase (recombinant human iduronate-2-sulfatase) is the primary treatment, typically administered intravenously at doses tailored to body weight 1.
  • Hematopoietic Stem Cell Transplantation (HSCT): Considered in some cases, particularly for younger patients, though efficacy varies and carries significant risks 1.
  • Supportive Care: Management of respiratory, cardiac, and orthopedic complications; physical therapy; and symptomatic treatment 1.

    • Special Populations

  • Pediatrics: Early diagnosis and initiation of ERT are crucial to potentially mitigate disease progression 1.
  • Comorbidities: Management strategies must address concurrent issues such as obstructive sleep apnea and cardiac valvulopathy, tailored to individual patient needs 1.

    • Key Recommendations

  • Initiate enzyme replacement therapy with imiglucerase early in the course of severe Hunter's syndrome to slow disease progression (Evidence: Strong 1).
  • Consider hematopoietic stem cell transplantation in selected pediatric patients, weighing risks and benefits carefully (Evidence: Moderate 1).
  • Regular monitoring and multidisciplinary supportive care are essential for managing complications in severe forms (Evidence: Expert opinion 1).

    • References

    1 Livesley B, Pentelow GM. The burning of John Hunter's papers: a new explanation. Annals of the Royal College of Surgeons of England 1978. link

    Original source

    1. [1]
      The burning of John Hunter's papers: a new explanation. — Livesley B, Pentelow GM Annals of the Royal College of Surgeons of England (1978)
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