title: Hyperekplexia, a cause of neonatal apnea: a case report.
abstract: We report a case of non-familial hyperekplexia which characteristically developed apnea and feeding difficulties in the neonatal period. The abnormal startle response was evident from the second week of life onwards. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam. Clobazam was also tried with no apparent response. A prominent long latency C response was observed on EMG examination, suggesting a possible cortical neuronal hyperexcitability origin for the abnormal startle response observed in hyperekplexia.
authors.affiliation: Departamento de Neurologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, Brazil.
authors.forename: J L
authors.initials: JL
authors.lastname: Gherpelli
authors.forename: A R
authors.initials: AR
authors.lastname: Nogueira
authors.forename: E J
authors.initials: EJ
authors.lastname: Troster
authors.forename: A D
authors.initials: AD
authors.lastname: Deutsch
authors.forename: C R
authors.initials: CR
authors.lastname: Leoné
authors.forename: M W
authors.initials: MW
authors.lastname: Brotto
authors.forename: A
authors.initials: A
authors.lastname: Diament
authors.forename: J L
authors.initials: JL
authors.lastname: Ramos
mesh_terms: D014151:Anti-Anxiety Agents; D001049:Apnea / Q000209:etiology*; D001569:Benzodiazepines; D001570:Benzodiazepinones / Q000627:therapeutic use; D000078306:Clobazam; D002998:Clonazepam / Q000627:therapeutic use; D004576:Electromyography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009069:Movement Disorders / Q000175:diagnosis / Q000503:physiopathology*; D012018:Reflex; D013216:Reflex, Startle
chemical_list: D014151:Anti-Anxiety Agents; D001570:Benzodiazepinones; D001569:Benzodiazepines; D000078306:Clobazam; D002998:Clonazepam