Rationale: Septo-optic dysplasia (SOD) is a rare congenital disorder that may cause jaundice in infants. However, it is usually prone to neglect and misdiagnosis in infants with cholestasis because endocrine disorder such as panhypopituitarism is rare in the cause of infantile cholestasis. We report a case of SOD concurrent with acquired cytomegalovirus (CMV) infection, who presented with prolonged jaundice as the first clinical sign.
Patient concerns: The patient was a 2-month-old male infant who presented with cholestasis, combined with fever and panhypopituitarism.
Diagnoses: He was diagnosed with SOD and acquired CMV infection.
Interventions: He was treated with hormone replacement therapy and ganciclovir.
Outcomes: After correction of the pituitary hormone deficiency and ganciclovir treatment, significant improvements of cholestasis, retinal lesions, and growth rate were seen in our patient.
Lessons: Although an endocrine disorder such as panhypopituitarism is rare in the cause of neonatal or infantile cholestasis, we must keep this reason in mind.