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Published on: September 12, 2019
Incidence of hepatic hamartomas in tuberous sclerosis
S Jóźwiak1, M Pedich, P Rajszys
1Department of Child Neurology, Child's Health Centre, Warsaw, Poland.
Insights
Hepatic hamartomas are common in children with tuberous sclerosis (TS), especially in older girls. This finding aids in diagnosing TS and offers crucial genetic counseling insights.
Area of Science:
- Pediatric Radiology
- Medical Genetics
Background:
- Hepatic hamartomas were historically considered rare in tuberous sclerosis.
- Accurate incidence data is essential for understanding disease manifestations.
Purpose of the Study:
- To determine the incidence of hepatic hamartomas in pediatric tuberous sclerosis patients.
- To review existing literature on this topic.
Main Methods:
- Ultrasonography was used to examine 51 children (25 boys, 26 girls) aged 3 months to 18 years.
- Literature review of reported cases.
Main Results:
- Hepatic hamartomas were identified in 12 (23.5%) of the children.
- Incidence was higher in girls (5:1 ratio) and increased with age, reaching 45% in those over 10.
- No symptoms of hepatic dysfunction were observed.
Conclusions:
- Hepatic hamartomas are a common finding in pediatric tuberous sclerosis.
- Their presence can aid in accurate diagnosis and genetic counseling for tuberous sclerosis.
Abstract:
Hepatic hamartomas were thought to be a rare finding in patients with tuberous sclerosis. The purpose of this study was to assess their incidence in children with tuberous sclerosis and to review the literature. During 1984-90 we examined 51 children by ultrasonography; there were 25 boys and 26 girls. Their age ranged from 3 months to 18 years. Liver hamartomas were seen in 12 (23.5%) of the children, more often in girls than boys (5:1). Their incidence increased with age reaching 45% in children over the age of 10. They did not produce any symptoms of hepatic dysfunction. Our study and review of reported cases prove that hepatic hamartomas are a common finding in patients with tuberous sclerosis and may be very helpful in providing a more accurate diagnosis and consequently help in genetic counselling.
