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Insights into the ocular manifestations of galactosemia: cataracts and pseudotumor cerebri

Poster Details

First Author: N.Pinto Ferreira PORTUGAL

Co Author(s):    A. Fonseca   M. Faria   J. Pinto   M. Monteiro-Grilo     

Abstract Details


Galactosemia is a rare autosomal recessive metabolic disease characterized by the inability in the conversion of galactose to glucose. The disease is fatal if undiagnosed and untreated. Cataract will develop bilaterally in most patients, usually within the first few weeks of life. We present a case of bilateral cataract due to galactosemia that also presented with pseudotumor cerebri, a rare manifestation of this metabolic disease.


Centro Hospitalar Lisboa Norte: Hospital de Santa Maria


Case report followed between 2013 and 2014


F.H. 20 months old, female, with a family history of consanguinity, came to our department with the suspicion of reduced visual acuity. Her careers also referred low weight and failure to thrive. On observation, she had bilateral nuclear cataracts, for whose she was submitted to surgery. On follow-up, it was noted bilateral optic disc edema. Lumbar puncture revealed elevated intracranial pressure, which, with the exclusion of other causes for papilledema, suggested pseudotumor cerebri. Given the clinical data, it was proposed the diagnosis of Galactosemia, with lactose restriction from her diet. The Genetic test results were positive for GALK1 enzyme deficiency.


Galactosemia is a rare genetic disease, characterized by an abnormal child development that may be fatal if untreated. Its main ocular feature is the presence of bilateral cataract. In this case, Galactosemia also presented with pseudotumor cerebri, another rare documented manifestation. The treatment of this genetic disorder is based on complete dietary restriction of lactose products.

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