title: Familial cyanotic breath-holding spells.
abstract: Breath-holding spells can be a source of considerable parental anxiety and are a frequent cause of referral to paediatric services. This report is of a family of seven siblings all of whom have suffered breath-holding spells, including three who developed breath-holding spells within the neonatal period, with the other four developing them at 3-4 months of age. All of the children have on occasions exhibited convulsive activity at the termination of the episode. All had normal initial electroencephalogram's (EEG) and one had centrotemporal spikes on his EEG when repeated at age 6 years. Anticonvulsant therapy resulted in a reduced frequency of breath-holding spells. The epidemiology, pathophysiology and therapy of breath-holding spells is discussed with reference to this unique family. This report gives further credence to the notion that there often may be a familial predisposition to breath-holding spells.
authors.affiliation: Department of Neurology, Princess Margaret Hospital, Perth, Western Australia.
authors.forename: P L
authors.initials: PL
authors.lastname: Silbert
authors.forename: S S
authors.initials: SS
authors.lastname: Gubbay
mesh_terms: D003490:Cyanosis / Q000235:genetics* / Q000503:physiopathology; D004569:Electroencephalography; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012120:Respiration Disorders / Q000235:genetics* / Q000503:physiopathology