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Familial cyanotic breath-holding spells
1Department of Neurology, Princess Margaret Hospital, Perth, Western Australia.
Insights
This study highlights a unique family with seven siblings experiencing breath-holding spells, some with seizure-like activity. Anticonvulsant therapy reduced spell frequency, suggesting a familial link and potential treatment benefits.
Area of Science:
- Pediatric Neurology
- Genetics
Background:
- Breath-holding spells are common in infants and children, causing parental anxiety and frequent pediatric referrals.
- Understanding the underlying mechanisms and potential genetic factors is crucial for effective management.
Observation:
- A family with seven siblings all experiencing breath-holding spells was studied.
- Three siblings developed spells neonatally, while four others manifested them at 3-4 months of age.
- Convulsive activity was observed in all affected siblings during episodes.
Findings:
- Electroencephalograms (EEGs) were initially normal in all children.
- One child showed centrotemporal spikes on a repeat EEG at age 6.
- Anticonvulsant therapy led to a decreased frequency of breath-holding spells.
Implications:
- This case provides strong evidence for a familial predisposition to breath-holding spells.
- The findings suggest that anticonvulsant medication may be beneficial in managing frequent or severe breath-holding spells.
- Further research into the genetic basis of breath-holding spells is warranted.
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.