Infant Journal
for neonatal and paediatric healthcare professionals

A case of Goldston syndrome in a newborn with a CEP290 ciliopathy

This article describes the case of a live male infant delivered at 34+5 weeks’ gestation in view of antenatally diagnosed abnormalities, including bilateral ventriculomegaly with hydrocephalus and bilateral polycystic kidneys. Postnatally, he was confirmed to have a Dandy-Walker malformation and autosomal recessive polycystic kidneys, the combination of which is suggestive of Goldston syndrome. Trio-exome genetic testing was performed on this infant, revealing a homozygous pathogenic CEP290 variant. We therefore present the first case of Goldston syndrome associated with a CEP290 variant.

Arameh Aghababaie1

Bijaya Chowdhury1

Nina Tanna1

Ariane Waran2

Lewis Pang3

Aruj Qayum1

1Barts Health NHS Trust, London
2Great Ormond Street Hospital for Children NHS Foundation Trust, London
3Royal Devon University Healthcare NHS Foundation Trust, Exeter

Aghababaie A., Chowdhury B., Tanna N., Waran A., Pang L., Qayum A. A case of Goldston syndrome in a newborn with a CEP290 ciliopathy. Infant 2024; 20(3): 73-77.

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Goldston syndrome; Meckel-Gruber syndrome; CEP290 variant; ciliopathy; Dandy-Walker malformation; polycystic kidneys
Key points
  1. Goldston syndrome (GS) currently has no known genetic associations, but is thought to be a variant of Meckel-Gruber syndrome, the most severe of the CEP290-related ciliopathies.
  2. We present the first case of GS associated with a CEP290 variant.
  3. The prognosis is often poor for these patients and a multidisciplinary approach, including palliative care input, should be established postnatally.

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