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Hydrocephalus, mineralizing angiopathy, hypercholesterolemia, and hyperlipoprotein (a)
A Y Manzur1, K J Poskitt, M G Norman
1Department of Pediatrics, University of British Columbia, Vancouver, Canada.
Insights
A boy with normal development experienced acute hydrocephalus and epilepsy. Investigations revealed extremely high lipoprotein(a) levels, familial hypercholesterolemia, and mineralizing angiopathy, explaining his neurological issues.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- This case study examines a pediatric patient with a history of premature birth (34 weeks gestation).
- Initial development was normal until 22 months of age.
Observation:
- The patient presented with acute hydrocephalus at 22 months, followed by developmental delay and epilepsy.
- Clinical investigations revealed significant neurological complications.
Findings:
- Extremely elevated lipoprotein(a) levels and familial hypercholesterolemia were identified.
- Cerebral and meningeal lesions were observed, alongside evidence of mineralizing angiopathy on radiologic studies.
Implications:
- This case highlights a potential link between severe hyperlipoproteinemia(a) and pediatric cerebrovascular disease.
- Early identification and management of lipid disorders may be crucial in preventing neurological sequelae in children.
- Further research is warranted to understand the pathogenesis of mineralizing angiopathy in this context.
Abstract:
A boy born at 34 weeks gestation with initially normal development presented with acute hydrocephalus at 22 months. Subsequently his development has been slow and complicated clinically by epilepsy. Upon extensive investigation, he has been found to have extremely elevated lipoprotein(a) levels, hypercholesterolemia (familial), and lesions of the cortex and meninges. Radiologic studies have disclosed a mineralizing angiopathy.
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