Identification of a Novel CDH2 Gene Variant in an ACOGS Patient with Concurrent Respiratory Tract Infection: A Case...

Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a rare disease that has only been described in recent years. To date, nineteen cases have been reported. ACOGS often leads to severe complications and is potentially fatal. However, its pathogenesis and clinical spectrum remain poorly understood by clinicians, and several genetic variants associated with the syndrome have yet to be fully characterized.

We present the case of a five-month-old infant exhibiting dysmorphic facial features, corneal leucoma, esotropia, nystagmus, agenesis of the corpus callosum, and tricuspid regurgitation. The child was admitted to our hospital with a respiratory tract infection, and eventually diagnosed with ACOGS. Whole exome sequencing identified a novel de novo heterozygous variant in the cadherin 2 (CDH2) gene (c.744G>T). During hospitalization, the patient developed multiple symptoms including respiratory distress, tachycardia, and arrhythmia.

Despite intensive interventions-including invasive mechanical ventilation-his condition continued to deteriorate, and he ultimately succumbed to complications.

ACOGS is a rare disease with complex clinical presentations and generally poor outcomes. Based on current limited evidence, it may be reasonable for clinicians to maintain a high index of suspicion and to consider early genetic testing. When ACOGS is suspected, whole exome sequencing could be considered as part of the diagnostic workup.