Goldston syndrome: Dandy Walker malformation with features of bilateral polycystic kidneys – a rare case report

A 32-year-old Gravida 2 Para1 female presented for a routine anomaly ultrasound examination which showed a single live fetus corresponding to 19 weeks of gestation. There was no past history of consanguinity among the parents and no positive family history of renal diseases on both maternal and paternal side.

Ultrasound showed complete absence of cerebellar vermis with enlarged posterior fossa cyst communicating with fourth ventricle (Fig. 1a). Bilateral lateral ventricles were dilated; maximum width of right side measured 11 mm and left side measured 10 mm at the level of atrium (Fig. 1b). Bilateral thalami and cavum septum pellucidum were visualised. There was no evidence of corpus callosum agenesis. Nuchal fold thickness was thickened measuring 7.2 mm.

There were bilateral symmetrically enlarged, echogenic kidneys filling the fetal abdomen (Fig. 2a). The right fetal kidney measured 4.5 x 3.0 cm (Fig. 2b) and left kidney measured 4.9 x 2.8cm (Fig. 2c). Fetal abdominal viscera, spines were normal without visualisation of urinary bladder. Amniotic fluid was markedly reduced with single vertical pocket measuring 0.5 cm.

Based on the antenatal ultrasound findings, a diagnosis of Dandy Walker malformation (DWM) with bilateral enlarged echogenic kidneys was made with a probability of Goldstone syndrome.

Goldston syndrome is a distinct entity associated with cystic dysplastic kidneys and DWM (1). The aetiology of this syndrome is unknown. Association of this cerebrorenal abnormality is rare and both of them have autosomal recessive inheritance pattern. Antenatal ultrasound describes DWM as complete or partial absence of cerebellar vermis with a posterior fossa cyst communicating with the 4^th ventricle [1, 2] Symmetrically enlarged and echogenic bilateral fetal kidneys with oligohydramios gives possibility of dysplastic and polycystic kidneys[1,2].

Another syndrome associated with DWM, cystic dysplastic renal lesions along is Meckel's Gruber syndrome, which is a rare familial disorder characterised by occipital encephalocele, microcephaly, cleft palate, polycystic kidneys and polydactyly affecting all four limbs [3]. But this association is not always present. Our case can be distinguished from this syndrome on the basis of absence of polydactyly and occipital meningoencephalocele.

Another syndrome associated with DWM, congenital hepatic fibrosis and generalized cystic dysplastic renal lesions are characterized as Miranda syndrome or cerebrohepatorenal syndrome, which is a rare familial disorder [4].

We reported our case as a live fetus with DWM with hydrocephalus and bilateral echogenic enlarged kidneys with a possibility of ARPKDs and severe oligohydramnios –likely to be Goldston syndrome. This might be the first reported case of Goldston syndrome from Nepal and 7^th antenatally diagnosed case report in the world as per the literatures published.

Goldston reported the first case where he described three siblings with diffuse cystic renal dysplasia without hepatic fibrosis [1,2]. The first antenatally diagnosed case was reported by Gloeb where he had described a case of premature male infant with features of DWM and echogenic kidneys at 17^th weeks of gestation [5]. Another diagnosis of Goldston syndrome at 28^th weeks of gestation was reported by Gulcan et al [6]. Avcu et al. reported the third case of Goldston syndrome at 22 weeks of gestation with hydrocephalus [7]. Hussain et al. reported the Goldston syndrome at 27 weeks of gestation with oligohydramnios [8]. Moerman et al. have reported two siblings with cerebrorenal malformations with hepatic ductal plate malformations [9]. Al‑Shahrani reported another case of Goldstan syndrome with gross ascites [10]. These are the antenatally diagnosed few reported cases of Goldston syndrome in the literature [6,7,8,9,10]. The first case in an adult 32-year-old female with chronic renal failure was reported by Menon et al. who had bilateral large cystic kidneys [11].

There has been a debate about Goldston being a single rare entity or a variant of Meckel’s Gruber syndrome which is characterised by renal cystic dysplasia, occipital encephalocele and postaxial polydactyly [12].

In conclusion findings of DWM and bilateral multicystic echogenic, enlarged kidneys suggests Goldston syndrome. Timely antenatal diagnosis of this rare syndrome is important so that proper counselling and appropriate obstetric and pediatric management can be offered.

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