A preterm newborn presents with hypotonia, congenital heart disease, hypoglycemia, and enlarged corneas (Fig 1).
After initial stabilization, the infant remained intubated, with gradual reduction in ventilator settings. The initial blood gas analysis revealed a metabolic acidosis with elevated lactate level prompting correction with fluids. In addition, the infant was found to be hypoglycemic, requiring several glucose boluses followed by continual infusion.
In a preterm neonate with bilateral enlarged corneas along with multiorgan system abnormalities, the enlarged corneas have 2 possible causes:
A pediatric ophthalmologist was consulted, who diagnosed bilateral megalocornea because the intraocular pressures were normal. No intervention was required other than outpatient follow-up exams (as seen in Figure 2) to monitor for lens dislocation and glaucoma. Given his myriad additional complexities, he was followed up by multiple subspecialists. His chromosomal microarray demonstrated an Xq22.3 deletion, which includes a partial deletion of CHRDL1. This gene...