Novel Melano-Cortin-2-Receptor Gene Mutation Presenting With Infantile Cholestasis: A Case Report.

ABSTRACT:

Introduction

For many years, congenital panhypopituitarism has been recognized to cause infantile cholestasis. However, the isolated cortisol deficiency as a cause of cholestasis and liver failure was rarely reported.

Case description

A 32-days old male infant presented to the hepatology clinic with infantile cholestasis. His initial workup revealed alanine transaminase (ALT) level of 138 U/L, aspartate transaminase level of 76 U/L, total bilirubin (T.Bil) of 103 mmol/L, direct bilirubin of (D.Bil) 83 mmol/L, gamma-glutamyl transpeptidase (GGT) level of 28 U/L with normal prothrombin time (PT) of 13 seconds. One week later, the patient developed severe bronchiolitis necessitating mechanical ventilation associated with acute liver failure and worsening cholestasis. His ALT in

SUBMITTER: Alsaedi A 

PROVIDER: S-EPMC8998368 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature