Cerebral arterial ectasia and tuberous sclerosis: case report

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W J Spangler1, G R Cosgrove, R A Moumdjian

  • 1Neurosurgical Service, Massachusetts General Hospital, Harvard Medical School, Boston, USA.

Neurosurgery
|January 1, 1997
PubMed

Insights

Tuberous sclerosis (TS) can cause rare cerebrovascular anomalies, including arterial ectasia and giant aneurysms in children. Early consideration of these vascular lesions is crucial in TS patients presenting with neurological symptoms.

Area of Science:

  • Neurology
  • Pediatric Neurology
  • Vascular Neurology

Background:

  • Tuberous sclerosis (TS) is a genetic disorder characterized by the development of hamartomas in multiple organs.
  • Central nervous system (CNS) involvement is common in TS, manifesting as tubers, subependymal nodules, and cortical dysplasia.
  • Cerebrovascular abnormalities are exceptionally rare complications of TS.

Observation:

  • A 5-month-old infant with a confirmed diagnosis of tuberous sclerosis presented with seizures.
  • Imaging revealed a subependymal tumor and intraventricular hemorrhage.
  • Cerebral angiography identified a large fusiform aneurysm of the left cavernous internal carotid artery and arterial ectasia of the left anterior and middle cerebral arteries.

Findings:

  • The case highlights a rare presentation of cerebrovascular anomalies in a pediatric patient with tuberous sclerosis.
  • The observed anomalies included cerebral arterial ectasia and a giant fusiform aneurysm.
  • The patient developed hydrocephalus, ultimately succumbing to infectious complications post-shunt procedures.

Implications:

  • Cerebrovascular anomalies, though rare, should be included in the differential diagnosis for CNS mass lesions in patients with tuberous sclerosis.
  • Misdiagnosis could lead to inappropriate interventions, such as biopsies of vascular lesions, with potentially catastrophic outcomes.
  • Increased awareness and diagnostic vigilance are necessary for managing complex TS cases with potential vascular complications.
Abstract

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