Neonatal hemochromatosis - A fulminant cause of neonatal cholestasis

Neonatal hemochromatosis.

Neonatal cholestasis.

2004;25;388 Pediatrics in Review Frederick J. Suchy Neonatal Cholestasis http://pedsinreview.aappublications.org/content/25/11/388 located on the World Wide Web at: The online version of this article, along with updated information and services, is http://pedsinreview.aappublications.org/content/suppl/2005/01/26/25.11.388.DC1.html Data Supplement (unedited) at: Pediatrics. All rights reserved. ...

Neonatal cholestasis and hypopituitarism 787 Neonatal cholestasis and hypopituitarism

Optic nerve hypoplasia with hypopituitarism and intact septum pellucidum is a variant of septo-optic dysplasia or deMorsier's syndrome.' Although neonatal jaundice has been seen with this syndrome, the association with severe prolonged cholestatic jaundice has not been emphasised. We describe three patients who presented with cholestatic jaundice and were found to have optic nerve hypoplasia an...

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

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 n...

Diagnosis of Neonatal Cholestasis

Cholestasis is frequent in neonates (1/2,500 live births) and in young children. It includes many etiologies with sometimes poor prognosis. In case of neonatal cholestasis, the most important point is to look at the stool color and to rule out biliary atresia which needs to be surgically treated before the 45th day of life. Biliary atresia represents almost 50% of cases of neonatal cholestasis,...