Musculoskeletal manifestations of sanfilippo syndrome (mucopolysaccharidosis type III)

Klane K. White, Lori A. Karol, Dustin R. White, Susan Hale

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

BACKGROUND: The most pronounced symptom in mucopolysaccharidosis type III (MPS III, Sanfilippo Syndrome) is the severe neurocognitive deterioration of the central nervous system. The effects of MPS III on the musculoskeletal system are less severe than those caused by other forms of MPS, however, it is our experience that many families seek orthopaedic attention for perceived musculoskeletal discomfort, particularly about the hip and spine. The purpose of this study is to report musculoskeletal findings in a case series of patients with MPS III. METHODS: This study represents a retrospective case series of all records available from 2 institutions on patients with MPS III. Chart and radiographic review was performed and outcomes tabulated. Our hypotheses are: (1) Musculoskeletal abnormalities are prevalent in children with MPS III and (2) Musculoskeletal deformities in children with MPS III may require surgical intervention. RESULTS: Eighteen patients were identified (10 female and 8 male) with an average age of 10.3 years. Three had significant scoliosis (21 to 99 degrees) and 2 others had L1 hypoplasia. Four patients had osteonecrosis of the femoral heads. One patient required a carpal tunnel release, and another a trigger thumb release. There were no cases of cervical instability. CONCLUSIONS: In our study with these patients, we have observed several unreported musculoskeletal manifestations of MPS III. Osteonecrosis of the hips can be a source of severe discomfort for these children. Although uncommon, operative intervention for orthopaedic conditions is sometimes warranted. Operative indications in this cohort include progressive scoliosis of large magnitude, carpal tunnel syndrome, and trigger digits. LEVEL OF EVIDENCE: Level IV; case series.

Original languageEnglish (US)
Pages (from-to)594-598
Number of pages5
JournalJournal of Pediatric Orthopaedics
Volume31
Issue number5
DOIs
StatePublished - Jul 2011

Fingerprint

Mucopolysaccharidosis III
Trigger Finger Disorder
Osteonecrosis
Scoliosis
Orthopedics
Hip
Musculoskeletal Abnormalities
Musculoskeletal System
Carpal Tunnel Syndrome
Thigh
Wrist
Spine
Central Nervous System

Keywords

  • foot deformities
  • mucopolysaccharidosis
  • osteonecrosis
  • sanfilippo syndrome
  • scoliosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Orthopedics and Sports Medicine

Cite this

Musculoskeletal manifestations of sanfilippo syndrome (mucopolysaccharidosis type III). / White, Klane K.; Karol, Lori A.; White, Dustin R.; Hale, Susan.

In: Journal of Pediatric Orthopaedics, Vol. 31, No. 5, 07.2011, p. 594-598.

Research output: Contribution to journalArticle

White, Klane K. ; Karol, Lori A. ; White, Dustin R. ; Hale, Susan. / Musculoskeletal manifestations of sanfilippo syndrome (mucopolysaccharidosis type III). In: Journal of Pediatric Orthopaedics. 2011 ; Vol. 31, No. 5. pp. 594-598.
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