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Torticollis in an infant caused by hereditary muscle aplasia

Samuel B Adams1, John M Flynn, Harish S Hosalkar

  • 1Division of Orthopaedics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-4399, USA.

American Journal of Orthopedics (Belle Mead, N.J.)
|December 5, 2003
PubMed

Insights

This study reports a rare case of infant torticollis caused by hereditary unilateral absence of neck muscles. This genetic condition, affecting sternocleidomastoid and trapezius muscles, was diagnosed using imaging and electromyography.

Area of Science:

  • Pediatric Orthopedics
  • Clinical Genetics
  • Neuromuscular Disorders

Background:

  • Torticollis is a frequent orthopedic presentation in children.
  • Hereditary muscle conditions can manifest in various forms.
  • Accurate diagnosis is crucial for effective management.

Observation:

  • A severe case of infant torticollis was observed.
  • The condition was linked to unilateral absence of sternocleidomastoid and trapezius muscles.
  • Family history revealed milder, similar findings in the father and grandfather.

Findings:

  • Electromyography and cross-sectional imaging confirmed unilateral muscle aplasia.
  • This represents the first reported instance of hereditary unilateral muscle aplasia presenting as infant torticollis.
  • The genetic basis of the condition was evident through familial presentation.

Implications:

  • Highlights the importance of considering genetic etiologies in congenital muscular torticollis.
  • Suggests potential for early diagnosis and intervention in affected families.
  • Contributes to understanding the spectrum of hereditary muscle aplasia disorders.

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