Intractable Rare Dis Res. 2019;8(2):154-157. (DOI: 10.5582/irdr.2019.01017)

Goldston syndrome with congenital hepatic fibrosis: A rare cause of neonatal cholestasis.

Agrwal S, Dabas A, Pal T, Jhamb U


SUMMARY

Goldston syndrome (GS) is a rare association of Dandy-Walker malformation (DWM) and cystic renal dysplasia with or without hepatic fibrosis. It is considered to be a milder variant of Meckel Gruber syndrome (MGS) and shares features with Miranda syndrome. We reported a 22 day old infant with DWM and autosomal recessive polycystic kidney disease (ARPKD) who presented with cholestasis and acholic stools. Ultrasonography and magnetic resonance cholangiopancreatography (MRCP) confirmed the diagnosis of congenital hepatic fibrosis (CHF). The child improved with supportive treatment. CHF is a rare condition which may present as a syndromic association.


KEYWORDS: Dandy walker malformation, cystic renal disease, syndromic association, neonatal cholestasis, fibrocystic disease of liver

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