P400: Rare case of spondylo-ocular syndrome diagnosed in siblings from North India

Treatment and Management: Initial postnatal echocardiogram, abdominal ultrasound, and brain ultrasound were normal.Antiviral therapy for congenital CMV was initiated on DOL 3 and discontinued after 6 weeks per parental preference given the risk for complications already associated with YARSopathy.Screening fecal elastase recommended due to risk for pancreatic insufficiency was normal.She was diagnosed with hypertension.Bilateral, profound SNHL was diagnosed at 3 months and cochlear implantation is being explored.Ophthalmology evaluation on DOL 3 was normal.MRI of the brain/orbits at 8 months was suggestive of dysmyelination with normal orbits/optic nerves.At 7 months she was found to have persistently elevated aminotransferases, GGT, and hyperbilirubinemia suggestive of acute bacterial cholangitis.Abdominal ultrasound and MRI at 7 months identified hepatic lesions, most characteristic of dysplastic nodules.Outcome and Follow-Up: The infant is currently 9 months old and is followed for feeding difficulties/slow growth with oropharyngeal dysphagia and G-tube dependence, hypoglycemia, cholestatic liver disease, SNHL, and transfusion-dependent anemia.Discussion: The infant received dual diagnoses of YARSopathy and congenital CMV, which share a considerable degree of overlap in their manifestations.As several of this neonate's features could have been attributed solely to congenital CMV, such as FGR, placental abnormalities, developmental delays, and SNHL, the detailed family history was pertinent to making the genetic diagnosis.We suspect that their prior fetal demise was similarly affected with YARSopathy.Knowledge of the YARSopathy diagnosis has altered this infant's care, including supportive therapies and anticipatory screening, with the goal of improving prognosis compared to previous reports.Conclusion: This case therefore emphasizes the value of a thorough family history evaluation in guiding a genomics-based approach to congenital anomalies.It also adds to the literature regarding the clinical spectrum of this rarely reported condition, thus aiding in future research to elucidate the complete YARSopathy phenotype and potential therapeutics.