Nonketotic hyperglycinemia: a case of a serious congenital hypotonia diagnosed by magnetic resonance
Authors:
J. Dušek 1; A. Sjöström 1; J. Žižka 2
Authors‘ workplace:
Department of Neonatology, University Hospital of Northern Sweden, Umeå
1; Department of Radiology, University Hospital of Northern Sweden, Umeå a Radiologická klinika
Fakultní nemocnice Hradec Králové
2
Published in:
Čes-slov Pediat 2016; 71 (2): 87-90.
Category:
Case Report
Overview
Nonketotic hyperglycinemia: a case of a serious congenital hypotonia diagnosed by magnetic resonance
The authors present a case report of a full-term newborn with symptoms of hypotonia progressing into respiratory insufficiency with the need of artificial pulmonary ventilation.
Within the complex of diagnostic tests, magnetic resonance imaging and spectroscopy was performed and the diagnosis of nonketotic hyperglycinemia was suggested and finally confirmed by metabolic tests and eventually by DNA analysis.
The authors describe this congenital metabolic disease which is rare and with an unsatisfactory prognosis. Etiology, clinical course, therapy and prognosis of this rare entity are discussed. The value of non-invasive diagnosis by means of magnetic resonance is highlighted.
Key words:
nonketotic hyperglycinemia, magnetic resonance imaging – MRI, magnetic resonance spectroscopy – MRS, metabolic inbornerrors
Sources
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Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2016 Issue 2
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