The Association between Congenital Central Hypoventilation Syndrome (CCHS) and the Marcus Gunn Jaw-winking Syndrome: A Case Study and Literature Review

Background: We present a case of a 4 month-old male infant with CCHS and Marcus Gunn Jaw-winking Syndrome. He had a Neonatal Unit admission at birth for Hirschsprung’s Colitis. Aged two weeks, he was diagnosed with Marcus Gunn Jaw-winking syndrome after it was noted that he had a partial left upper lid ptosis and intermittent lid elevation when he breastfed.

The family consented to participate in whole genome sequencing; results confirmed a PHOX2B heterozygous pathological variant. At four months of age he had central apnoeas on a sleep study, confirming the diagnosis of CCHS.

Objectives: To present a case of the association between CCHS and the Marcus Gunn Jaw-winking Syndrome and to perform a literature review evaluating the evidence for this association.

Methods: A literature search was performed utilising Medline via Ovid and Scopus – see figure one.

Results: Three papers in total were found. One paper was removed as a duplicate and one removed after screening for eligibility. This resulted in one paper: a case study of a 2 month-old presenting with apnoeas and a right sided ptosis. The two references in this paper and seven citations for this paper were reviewed but yielded no further papers of interest.

Conclusion: There is a documented association between CCHS and Marcus Gunn Jaw-winking Syndrome. However, there is limited literature about this association, likely due to the low prevalence of both CCHS and the Marcus Gunn Jaw-winking Syndrome. Our case study reveals the association between CCHS and the Marcus Gunn Jaw-winking Syndrome which is thought to reflect the PHOX2B mutation (which results in CCHS) also causing cranial dysinnervation in the oculomotor nucleus.

We recommend those infants with unilateral partial ptosis and intermittent lid elevation when feeding have targeted genetic screening for PHOX2B mutations.