Nonketotic hyperglycinemia: a case of a serious congenital hypotonia diagnosed by magnetic resonance

Česká verze

Authors: J. Dušek ¹; A. Sjöström ¹; J. Žižka ²
Authors place of work: 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 the journal: Čes-slov Pediat 2016; 71 (2): 87-90.
Category: Kazuistika

Summary

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

Zdroje

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