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
a.aghababaie@nhs.net

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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Keywords

Goldston syndrome; Meckel-Gruber syndrome; CEP290 variant; ciliopathy; Dandy-Walker malformation; polycystic kidneys

Key points

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.
We present the first case of GS associated with a CEP290 variant.
The prognosis is often poor for these patients and a multidisciplinary approach, including palliative care input, should be established postnatally.

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