title: [Stiff baby syndrome is a rare cause of neonatal hypertonicity].
abstract: 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.
authors.affiliation: Frueløkke 115, 6200 Aabenraa. ms.roenne@gmail.com.
authors.forename: Maria Sode
authors.initials: MS
authors.lastname: Rønne
authors.forename: Preben Berg
authors.initials: PB
authors.lastname: Nielsen
authors.forename: Christian Backer
authors.initials: CB
authors.lastname: Mogensen
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D002998:Clonazepam / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D035583:Rare Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D016750:Stiff-Person Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics
chemical_list: D000927:Anticonvulsants; D002998:Clonazepam