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[Paroxysmal upgaze deviation syndrome].

Leandro Sousa1, Sergio Gonorazky

  • 1Hospital Privado de Comunidad de Mar del Plata, Argentina. leandro-d-sousa@hotmail.com

Archivos Argentinos De Pediatria
|December 7, 2010
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Summary
This summary is machine-generated.

Benign paroxysmal tonic upgaze syndrome involves episodes of upward eye deviation in infants. This condition typically resolves spontaneously but requires ruling out secondary causes, especially in cases like Down Syndrome.

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Area of Science:

  • Pediatric Neurology
  • Ophthalmology

Background:

  • Benign paroxysmal tonic upgaze syndrome (BPTUS) was first described in 1988.
  • Characterized by paroxysmal upgaze deviation episodes in early infancy.

Observation:

  • Episodes occur without altered consciousness and resolve during sleep.
  • Fixation nystagmus is noted on downward gaze.
  • Neurological examination is typically normal, barring mild ataxia.

Findings:

  • The idiopathic form of BPTUS tends toward spontaneous recovery.
  • Secondary forms of BPTUS necessitate careful evaluation due to varied prognoses.
  • Two cases are presented, including one patient with Down Syndrome, to analyze clinical features and differential diagnoses.

Implications:

  • Highlights the importance of differentiating idiopathic BPTUS from secondary causes.
  • Emphasizes the need for thorough clinical assessment in infants presenting with upgaze abnormalities.
  • Contributes to understanding the clinical spectrum and management of BPTUS, particularly in syndromic cases.