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

PURPOSE: To report the association of severe chorioretinal dysplasia, hydranencephaly, microcephaly, and intracranial calcification in children with no evidence of intrauterine infections.

METHODS

Two unrelated female infants with visually inattentive behaviour, hydranencephaly, and intracranial calcification were referred for an ophthalmological opinion.

RESULTS

The fundus examination and computerised tomograms (CT scans) of head were similar in both children. There was bilateral extensive chorioretinal dysplasia, intracranial calcifications, and hydranencephaly. Serology was negative for acquired intrauterine congenital infections.

CONCLUSIONS

We report two cases that may represent a new syndrome or the more severe end of the spectrum of the pseudo-TORCH (toxoplasma, rubella, cytomegalovirus, and herpes simplex) syndrome. The association of chorioretinal dysplasia with the pseudo-TORCH syndrome has not been reported previously.