We describe a case of bilateral microphthalmia with bilateral congenital cataracts associated with hydrocephalus in a 9-month-old girl with consanguineous parents. The differential diagnosis included: (1) congenital rubella syndrome; (2) congenital toxoplasmosis; (3) chromosome alterations; and (4) metabolic disease. However, negative clinical, laboratory, and instrumental investigations excluded all of these hypotheses. We stress the usefulness of echography in establishing whether or not infection has occurred during intrauterine life.

Hydrocephalus combined with congenital cataract and microphthalmia.

MAGLI, Adriano
1979

Abstract

We describe a case of bilateral microphthalmia with bilateral congenital cataracts associated with hydrocephalus in a 9-month-old girl with consanguineous parents. The differential diagnosis included: (1) congenital rubella syndrome; (2) congenital toxoplasmosis; (3) chromosome alterations; and (4) metabolic disease. However, negative clinical, laboratory, and instrumental investigations excluded all of these hypotheses. We stress the usefulness of echography in establishing whether or not infection has occurred during intrauterine life.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11386/3312277
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