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Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome?

P Watts1, N Kumar, A Ganesh

  • 1Department of Ophthalmology, University Hospital Wales, Cardiff, UK. Patrick.Watts@cardiffandvale.wales.nhs.uk

Eye (London, England)
|December 18, 2007
PubMed

Insights

This study describes two infants with severe chorioretinal dysplasia, hydranencephaly, and intracranial calcification, suggesting a potential new syndrome or severe pseudo-TORCH syndrome presentation.

Area of Science:

  • Ophthalmology
  • Neurology
  • Genetics

Background:

  • Intrauterine infections can cause severe congenital abnormalities.
  • The pseudo-TORCH syndrome encompasses congenital infections like toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus.
  • Chorioretinal dysplasia is a known ocular manifestation of certain congenital infections.

Observation:

  • Two unrelated female infants presented with visually inattentive behavior, hydranencephaly, and intracranial calcification.
  • Ophthalmological examination revealed bilateral extensive chorioretinal dysplasia in both infants.
  • Head CT scans confirmed hydranencephaly and intracranial calcifications.

Findings:

  • Both infants had similar clinical presentations and neuroimaging findings.
  • Serological tests for common intrauterine congenital infections were negative.
  • The combination of severe chorioretinal dysplasia with hydranencephaly, microcephaly, and intracranial calcification in the absence of infection is notable.

Implications:

  • These cases may represent a novel syndrome or a severe manifestation of the pseudo-TORCH syndrome.
  • The association of chorioretinal dysplasia with pseudo-TORCH syndrome is previously unreported.
  • Further research is needed to elucidate the etiology and define this potential new syndrome.
Abstract

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