Stiff baby syndrome er en sjælden årsag til neonatal hypertonicitet

Maria Sode Rønne, Preben Berg Nielsen, Christian Backer Mogensen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Stiff baby syndrome (hyperekplexia) is a rare genetic disorder. The condition can easily be misdiagnosed as epilepsy or severe sepsis because of hypertonicity and seizure-like episodes and has an increased risk of severe apnoea and sudden infant death. Tapping of the nasal bridge inducing a startle response is the clinical hallmark. We report cases of two sisters born with stiff baby syndrome with hypertonicity, exaggerated startle reaction and cyanosis. The syndrome has a good prognosis if treated with clonazepam and both cases were developmental normal after one year.

OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind176
Udgave nummer9A
Sider (fra-til)2-3
ISSN0041-5782
StatusUdgivet - 24. feb. 2014

Fingeraftryk

Clonazepam
Diagnostic Errors
Nose

Citer dette

Rønne, Maria Sode ; Nielsen, Preben Berg ; Mogensen, Christian Backer. / Stiff baby syndrome er en sjælden årsag til neonatal hypertonicitet. I: Ugeskrift for Laeger. 2014 ; Bind 176, Nr. 9A. s. 2-3.
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Stiff baby syndrome er en sjælden årsag til neonatal hypertonicitet. / Rønne, Maria Sode; Nielsen, Preben Berg; Mogensen, Christian Backer.

I: Ugeskrift for Laeger, Bind 176, Nr. 9A, 24.02.2014, s. 2-3.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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