The Role of Antenatal Ultrasound in the Detection of Goldston Syndrome: A Case Report and Review of Literature

Goldston syndrome (GS) is an extremely rare syndrome involving the central nervous system and kidneys. It is believed to have a familial association and an autosomal recessive inheritance and is characterized by the concomitant occurrence of cystic dysplastic kidneys and Dandy-Walker malformation. We report a case of antenatally detected GS at 22 weeks of gestation in a female with a consanguineous marriage. Meckel-Gruber syndrome and Miranda syndrome are the other inherited cerebro-renal syndromes, which are more common than GS, and differentiating them requires thorough knowledge about the imaging features and associations of these diseases. GS has a poor prognosis, which makes early antenatal detection crucial for appropriate counseling of the parents and for deciding further management strategies. Through this case report, we aim to highlight the crucial identifying ultrasound features of this rare disease and describe a stepwise approach to differentiate GS from other, more common differentials.