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The 3-M syndrome: risk of intracerebral aneurysm?
R F Mueller1, J Buckler, R Arthur
1Department of Clinical Genetics, General Infirmary, Leeds, Belmont, Grove.
Journal of Medical Genetics
|June 1, 1992
Insights
Children with 3-M syndrome may develop acute hydrocephalus due to bleeding intracranial cerebral vascular aneurysms. Regular screening for these vascular complications is recommended for affected children.
Area of Science:
- Pediatric Neurology
- Vascular Malformations
- Genetic Syndromes
Background:
- 3-M syndrome is a rare genetic disorder characterized by primordial dwarfism, facial dysmorphism, and skeletal abnormalities.
- Cerebral vascular aneurysms are abnormal bulges in blood vessels of the brain, which can lead to rupture and hemorrhage.
- Hydrocephalus is a condition characterized by an abnormal accumulation of cerebrospinal fluid in the brain.
Observation:
- A pediatric patient with classic features of 3-M syndrome presented with symptoms of acute hydrocephalus.
- Diagnostic imaging revealed the presence of two intracranial cerebral vascular aneurysms.
- Hemorrhage from one of the aneurysms was identified as the cause of the hydrocephalus.
Findings:
- The case highlights a potential, previously under-recognized association between 3-M syndrome and intracranial cerebral vascular aneurysms.
- Hemorrhage from these aneurysms can precipitate acute hydrocephalus in children with 3-M syndrome.
- This presentation underscores the critical need for vigilant monitoring of cerebrovascular health in this population.
Implications:
- Routine screening for intracranial cerebral vascular aneurysms should be considered in children diagnosed with 3-M syndrome.
- Early detection and management of these vascular abnormalities may prevent severe neurological complications like hydrocephalus.
- Further research is warranted to elucidate the underlying mechanisms linking 3-M syndrome and cerebrovascular disease.
Abstract:
We describe a child with typical features of the 3-M syndrome who presented with acute hydrocephalus owing to haemorrhage from one of two intracranial cerebral vascular aneurysms. We suggest that other children with this disorder should be screened for similar complications.