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BMJ Case Rep. 2016 Aug 17;2016. pii: bcr2016215032. doi: 10.1136/bcr-2016-215032.

Neonatal isolated ACTH deficiency (IAD): a potentially life-threatening but treatable cause of neonatal cholestasis.

Author information

1
Detroit Medical Center, Detroit, Michigan, USA Wayne State University, Detroit, Michigan, USA.
2
Wayne State University, Detroit, Michigan, USA.

Abstract

Isolated ACTH deficiency (IAD) is a rare cause of neonatal cholestasis and hypoglycaemia. This diagnosis has a 20% mortality potential if unrecognised. We describe a case of an infant presenting with cholestatic jaundice and hypoglycaemia. The patient had laboratory findings suggestive of IAD, which was later confirmed with molecular genetic testing. One of the mutations this patient had is a new finding. The patient was started on glucocorticoid replacement therapy after which his bilirubin and glucose levels normalised.

PMID:
27535729
PMCID:
PMC5015154
DOI:
10.1136/bcr-2016-215032
[Indexed for MEDLINE]
Free PMC Article

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