Open AccessImportance of early diagnosis of galactosemia and encephalopathy: case report
Author(s) -
Bruno Cassis Antunes Rodrigues,
Fabiana Sodré de Oliveira,
Rubens José Gagliardi
Publication year - 2021
Language(s) - English
Resource type - Conference proceedings
DOI - 10.5327/1516-3180.483
Subject(s) - galactosemia , medicine , pediatrics , encephalopathy , hypotonia , cataracts , failure to thrive , diabetes mellitus , genetic testing , intensive care medicine , endocrinology , galactose , ophthalmology , biology , biochemistry
Galactosemia is an autosomal recessive genetic condition, with alteration of galactose metabolism, leading to increased serum concentration of galactose (galactosemia). The first symptoms occur in the neonatal period, associated with the ingestion of galactose. Untreated patients usually have growth failure, liver and kidney dysfunction, tubulopathies, encephalopathy and susceptibility to infections. Case report: We describe a case of diagnostic investigation of a patient born at 38 weeks, after an uncomplicated gestation, with congenital cataracts, hepatomegaly, diabetes and Fanconi syndrome, as well as encephalopathy, hypotonia and cognitive deficit. She remained in the service for 15 days for diagnostic investigation, leading to hypothesis of galactosemia, confirmed later with genetic testing. Until then, the patient received unrestricted food, being instructed to change the diet, eliminating foods with galactose. After diagnosis, guidance and appropriate treatment were possible. Currently, patient is 20 years old, being monitored by neurology, ophthalmology, hepatology, occupational therapy and speech therapy teams. Conclusions: Brazil does not have neonatal screening for galactosmia, thus, the clinical recognition of its initial signs is important for early diagnosis and treatment, avoiding further complications and sequelae.