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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
PubMed

Insights

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.

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.

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