SCHEIE SYNDROME
 
PEDBASE.org - The Pediatric Database - Detailed information of SCHEIE SYNDROME

 

SCHEIE SYNDROME

 

DEFINITION:

A lysosomal storage disorder characterized by the accumulation of acid mucopolysaccharide (dermatan sulfate) in the central nervous system (CNS) and peripheral tissues.

EPIDEMIOLOGY:

  • incidence: ?
  • age of onset:
    • after 5 years of age
  • risk factors:
    • familial - autosomal recessive
      • chrom. #: 4p16.3
      • gene: alpha-L-iduronidase
    • M = F

PATHOGENESIS:

1. Background

  • alpha-L-iduronidase is a lysosomal enzyme which catalyzes the breakdown of dermatan sulfate (DS)
  • disease first described in 1962 by Scheie and is now classified as Mucopolysaccharidosis Type IS (MPS-IS)

2. Genetic Defect

  • genetic defect -> deficiency of alpha-L-iduronidase activity -> incomplete degradation of DS -> accumulation of DS in the CNS and peripheral tissues
  • the enzyme deficiency is the same as for MPS-IH but is specific for DS which accumulates in the tissues
  • Scheie (mild) and Hurler (severe) syndromes represent phenotypes at opposite ends of the clinical spectrum of alpha-L-iduronidase deficiency

CLINICAL FEATURES:

1. CNS Manifestations

1. Progressive Neurologic Disease

  • myelopathy secondary to thickened dura and pachymeningitis cervicalis

2. Intelligence

  • ranges from normal to mental retardation

2. Musculoskeletal Manifestations

1. Facial Features

  • mild facial coarsening
  • striking prognathism

2. Skeletal Features

  • joint stiffness -> clawed hands
  • carpal tunnel syndrome
  • normal height

3. Other Manifestations

1. Cardiovascular

  • 1. Aortic Valve Disease
    • stenosis +/- regurgitation

    • 2. Ophthalmologic

  • 1. Visual Impairment
    • corneal clouding -> loss of visual acuity
    • glaucoma
    • retinal degeneration

    • 3. ENT

    • hearing impairment -> deafness

    INVESTIGATIONS:

    1. Diagnostic

    • deficiency of alpha-L-iduronidase activity in leukocytes and cultured skin fibroblasts
    • prental:
      • deficiency of enzyme activity in cultured chorionic villi or amniocytes

    2. Urine

    • 24 hour urine collection: elevated DS

    3. Imaging Studies

    1. Skeletal X-Rays

    • mild dysostosis multiplex
    • coxa valga
    • slight radial/ulnar obliquity

    MANAGEMENT:

    1. Supportive

    • no treatment for underlying disease
    • multdisciplinary approach
      • Paediatrics, Neurology, Orthopedics, Cardiology, ENT,
      • Ophthalmology
      • genetic counselling

    2. Prognosis

    • MPS-IS is the mildest form of MPS
    • life expectancy: normal

     

     

     

    Pediatric Database - SCHEIE SYNDROME

     

    Pediatric Organization - Pedbase [at] Gmail.com

     
    1994 -2007 Pedbase.org 

    Powered by Database of Pediatrics- SCHEIE SYNDROME