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Rigid Spine Syndrome among Children in Oman.

Roshan Koul1, Dilip Sankhla2, Suad Al-Jahdhami3

  • 1Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.

Sultan Qaboos University Medical Journal
|September 11, 2015
PubMed
Summary
This summary is machine-generated.

Rigid spine syndrome (RSS) is a rare condition in children. This study identified 12 Omani children with RSS, distinguishing between primary and secondary forms for accurate diagnosis.

Keywords:
ChildrenMagnetic Resonance ImagingOmanRigid Spine Muscular DystrophyRigid Spine SyndromeSelenoprotein

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Area of Science:

  • Pediatric Neurology
  • Rare Diseases
  • Musculoskeletal Disorders

Background:

  • Rigid spine syndrome (RSS) is uncommon in pediatric populations.
  • Understanding its presentation in children is crucial for early diagnosis and management.

Purpose of the Study:

  • To document cases of rigid spine syndrome (RSS) in Omani children.
  • To differentiate between primary and secondary forms of RSS.

Main Methods:

  • A consecutive case series of children diagnosed with RSS between 1996 and 2014 at Sultan Qaboos University Hospital, Oman.
  • Diagnosis confirmed via clinical history, examination, biochemical tests, electrophysiology, neuro-imaging (MRI for paraspinal muscle atrophy), and muscle biopsy.
  • Primary RSS defined by paraspinal muscle onset; secondary RSS by late involvement in other muscle diseases.

Main Results:

  • Twelve children diagnosed with RSS over 18 years (9 males, 3 females).
  • Ten cases of primary RSS (rigid spinal muscular dystrophy) and two of secondary RSS identified.
  • Disease onset between birth and 18 months; five cases involved siblings, indicating potential genetic factors.

Conclusions:

  • Rigid spine syndrome (RSS) is a rare pediatric condition, with only 12 cases identified in this Omani cohort.
  • Distinguishing between primary and secondary RSS is essential for appropriate clinical classification and care.