title: Severe normotensive metabolic alkalosis in a 2-month-old boy with hyperekplexia.
abstract: A 2-month-old infant with hereditary hyperekplexia, umbilical and bilateral inguinal hernias and history of poor feeding was noted to have severe normotensive metabolic alkalosis: sodium 132 mmol/L, potassium 3.4 mmol/L, chloride 77 mmol/L, pH 7.55, carbon dioxide tension 56.3 mmHg and bicarbonate 48.0 mmol/L. After parenteral rehydration and treatment with clonazepam, laboratory parameters normalized.
authors.affiliation: Department of Pediatrics, Ospedale San Giovanni, Bellinzona.
authors.forename: L J
authors.initials: LJ
authors.lastname: Schlapbach
authors.forename: A
authors.initials: A
authors.lastname: Sozzo
authors.forename: G
authors.initials: G
authors.lastname: Ramelli
authors.forename: M G
authors.initials: MG
authors.lastname: Bianchetti
mesh_terms: D000471:Alkalosis / Q000150:complications / Q000175:diagnosis*; D001639:Bicarbonates / Q000097:blood; D001835:Body Weight; D002712:Chlorides / Q000627:therapeutic use; D002998:Clonazepam / Q000627:therapeutic use; D005192:Family Health; D005260:Female; D006547:Hernia / Q000150:complications; D006801:Humans; D007223:Infant; D008297:Male; D009122:Muscle Hypertonia / Q000150:complications / Q000175:diagnosis*; D012021:Reflex, Abnormal; D013216:Reflex, Startle / Q000502:physiology; D016896:Treatment Outcome
chemical_list: D001639:Bicarbonates; D002712:Chlorides; D002998:Clonazepam