Cholestasis caused by panhypopituitarism and acquired cytomegalovirus infection in a 2-month-old male infant: A case report

Abstract

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.

Figure 1

(A and B) Sagittal and coronal section of brain sonography showed agenesis of genu and rostrum of the corpus callosum (arrowhead) and absence of septum pellucidum (arrow).

Figure 2

(A and B) Sagittal and axial section of brain magnetic resonance imaging showed lobar holoprosencephaly, agenesis of genu, and rostrum of the corpus callosum (arrow in white), absence of septum pellucidum (arrow in black), and ectopic posterior lobe of the pituitary gland in the hypothalamus or floor of the third ventricle (arrowhead, a small high signal intensity spot in the hypothalamus).