An unusual ophthalmologic finding in a patient with congenital central hypoventilation syndrome

Eur J Ophthalmol. 2024 May;34(3):NP1-NP4. doi: 10.1177/11206721241235241. Epub 2024 Feb 25.

Abstract

Introduction: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disease due to a severely impaired central control of breathing and dysfunction of the autonomic nervous system. Ophthalmologic abnormalities are common in patients with CCHS and include horizontal strabismus, pupil and iris abnormalities and ptosis. We report a unique case of CCHS in association with monocular elevation deficit (MED) in a boy diagnosed with CCHS at birth.

Case description: We report a case of a boy with a confirmed diagnosis of CCHS (complete sequencing of the paired-like homeobox 2b (PHOX2B) gene) after presenting little respiratory effort and cyanosis at birth. The ophthalmological examination shows an impaired elevation of the left eye, both in adduction and abduction, associated with mild and variable left ptosis. His mother has observed that the left eyelid elevates when the child feeds. A deviation in the primary gaze position or a chin-up position are not present. The funduscopic examination is normal. Given that deviation is limited to upgaze, the ptosis is mild and the patient's age, observation is decided.

Conclusions: Ophthalmologic abnormalities are common in patients with CCHS and include horizontal strabismus, pupil and iris abnormalities and ptosis. To the best of our knowledge, this is the first report of MED in association with CCHS. Further studies are needed to determine if an association between MED and CCHS exists or is just a casual finding in this case.

Keywords: CPEO; MG; Ocular motility disorders < PEDIATRIC OPHTHALMOLOGY; diagnostic techniques < STRABISMUS; eye movement disorders < STRABISMUS; others) < STRABISMUS; special forms (Duane; vertical and A/V patterns < STRABISMUS.

Publication types

  • Case Reports

MeSH terms

  • Blepharoptosis* / congenital
  • Blepharoptosis* / diagnosis
  • Blepharoptosis* / physiopathology
  • Homeodomain Proteins / genetics
  • Humans
  • Hypoventilation* / congenital*
  • Hypoventilation* / diagnosis
  • Hypoventilation* / genetics
  • Hypoventilation* / physiopathology
  • Infant, Newborn
  • Male
  • Sleep Apnea, Central* / diagnosis
  • Sleep Apnea, Central* / genetics
  • Sleep Apnea, Central* / physiopathology
  • Strabismus / diagnosis
  • Strabismus / physiopathology
  • Transcription Factors / genetics

Substances

  • Homeodomain Proteins
  • NBPhox protein
  • Transcription Factors

Supplementary concepts

  • Congenital central hypoventilation syndrome