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Familial cyanotic breath-holding spells.
1Department of Neurology, Princess Margaret Hospital, Perth, Western Australia.
Journal of Paediatrics and Child Health
|June 1, 1992
Summary
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.