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New onset focal weakness in children with Down syndrome

Gordon Worley1, Rolla Shbarou, Amy N Heffner

  • 1Department of Pediatrics, Program in Neurodevelopmental Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. worle001@mc.duke.edu

American Journal of Medical Genetics. Part A
|June 24, 2004
PubMed

Insights

New focal weakness in Down syndrome (DS) can stem from various neurological issues, including stroke and spinal cord injury. Early diagnosis is crucial as many causes are treatable, improving patient outcomes.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • New onset focal weakness presents a diagnostic challenge in individuals with Down syndrome (DS).
  • Understanding the diverse causes is essential for timely intervention in this population.

Observation:

  • A study observed 10 cases of new onset focal weakness in patients with Down syndrome (DS), representing a 1.2% clinic prevalence.
  • The median age of presentation was 4 years, with causes including stroke (Moyamoya, vaso-occlusive, venous sinus thrombosis), traumatic subdural hematoma, brain abscess, spinal cord injury (cervical stenosis, atlantoaxial instability), and brachial plexus injury.

Findings:

  • Eight of the ten patients had potentially treatable conditions.
  • Five patients underwent surgical intervention for their condition.
  • The differential diagnosis for focal weakness in DS spans the entire nervous system, from the brain to peripheral muscles.

Implications:

  • Prompt diagnosis of new onset focal weakness in Down syndrome patients can significantly improve prognoses.
  • Highlights the need for comprehensive neurological evaluation in DS patients presenting with focal weakness.
  • Emphasizes the broad spectrum of neurological conditions that can manifest as focal weakness in Down syndrome.

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