Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations

J Neurosurg Pediatr. 2009 Nov;4(5):439-44. doi: 10.3171/2009.6.PEDS08137.

Abstract

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare genetic syndrome characterized by extremely small stature and microcephaly, and is associated in 25% of patients with intracranial aneurysms and moyamoya disease. Although aneurysmal subarachnoid hemorrhage and stroke are leading causes of morbidity and death in these patients, MOPD II is rarely examined in the neurosurgical literature. The authors report their experience with 3 patients who presented with MOPD II, which includes a patient with 8 aneurysms (the most aneurysms reported in the literature), and the first report of a patient with both moyamoya disease and multiple aneurysms. The poor natural history of these lesions indicates aggressive microsurgical and/or endovascular therapy. Microsurgery, whether for aneurysm clip placement or extracranial-intracranial bypass, is challenging due to tight surgical corridors and diminutive arteries in these patients, but is technically feasible and strongly indicated when multiple aneurysms must be treated or cerebral revascularization is needed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Adolescent
  • Anastomosis, Surgical
  • Brain / pathology
  • Cerebral Angiography
  • Dwarfism / complications
  • Dwarfism / pathology
  • Dwarfism / surgery*
  • Female
  • Humans
  • Infant
  • Intracranial Aneurysm / complications
  • Intracranial Aneurysm / pathology
  • Intracranial Aneurysm / surgery*
  • Magnetic Resonance Angiography
  • Male
  • Microcephaly / complications
  • Microcephaly / pathology
  • Microcephaly / surgery*
  • Moyamoya Disease / complications
  • Moyamoya Disease / pathology
  • Moyamoya Disease / surgery*
  • Neurosurgical Procedures*
  • Subarachnoid Hemorrhage / surgery
  • Tomography, X-Ray Computed
  • Treatment Outcome