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

Report of 3 cases

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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.

Abbreviations used in this paper:AP = anteroposterior; BA = basilar artery; EDAS = encephaloduroarteriosynangiosis; ICA = internal carotid artery; MOPD II = microcephalic osteodysplastic primordial dwarfism type II; PCA = posterior cerebral artery; PCoA = posterior communicating artery; SAH = subarachnoid hemorrhage; STA-MCA = superficial temporal artery–middle cerebral artery.

Article Information

Address correspondence to: Michael T. Lawton, M.D., Department of Neurological Surgery, University of California, San Francisco, 505 Parnassus Avenue, M780, Box 0112, San Francisco, California 94143-0112. email:lawtonm@neurosurg.ucsf.edu.

© AANS, except where prohibited by US copyright law.

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Figures

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    Case 1. Preoperative left ICA angiogram, AP (A) and lateral (B) views, demonstrating 6 aneurysms (1 each at the supraclinoid ICA, the PCoA, the ICA bifurcation, the M1 segment of the MCA, the MCA bifurcation, and the junction of the PCoA with the PCA). Preoperative right ICA angiogram, AP (C) and lateral (D) views, demonstrating 3 aneurysms (1 each at the PCoA, the PCA [P1–P2 junction], and the ICA bifurcation). The CT angiography studies demonstrate these aneurysms in the left posterior oblique (E) and posterior (F) views. H = head; L = left; P = posterior.

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    Case 1. Preoperative photograph of the patient's head position (A). The horseshoe headrest is used to minimize the force required for the Mayfield clamp on the patient's thin skull. B–H: Intraoperative photographs. Normal anatomy (B) was observed at the junction of the left PCoA and PCA, rather than an aneurysm as suggested by preoperative angiography. The ICA bifurcation aneurysm (C) was encased in thrombus, indicating that it had ruptured. The lesion was transected after clip application (D) to confirm complete occlusion. The PCoA aneurysm (E) had a broad neck that was reconstructed with 3 clips stacked perpendicular to the neck (F). The small ICA aneurysm just proximal to the first clip (F) was occluded with a full, curved clip (G). The sylvian fissure was filled with clips after 5 aneurysms had been ligated (H).

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    Case 1. Postoperative angiography study of the right (A) and the left (B) ICA, both AP views, demonstrating complete occlusion of all left-sided aneurysms and coil embolization of the aneurysm at the right PCA (P1–P2 junction).

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    Case 2. Admission digital subtraction angiography studies demonstrating bilateral distal supraclinoid ICA occlusions and extensive networks of collateral vessels consistent with moyamoya disease (right ICA injection, AP [A] and lateral [B] views; left ICA injection, AP [C] and lateral [D] views).

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    Case 2. Angiography also demonstrated aneurysms at the BA bifurcation and the right PCA (P1–P2 junction; left vertebral artery injection, AP [A] and lateral [B] views). Although the BA bifurcation aneurysm was the probable source of SAH, both of these aneurysms were treated with coils to be certain that the bleeding source was secured (left vertebral artery injection, AP [C] and lateral [D] views).

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    Case 3. Axial FLAIR (A) and diffusion weighted (B) MR images demonstrating chronic ischemia in bilateral hemispheres and an acute left frontal infarction. Angiography studies showed a high-grade right supraclinoid ICA stenosis (right ICA injection, AP [C] and lateral [D] views) and occlusion of the left supraclinoid ICA (left ICA injection, AP [E] and lateral [F] views), with characteristic moyamoya disease bilaterally.

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    Case 3. A: Intraoperative photograph demonstrating the diminutive brain size and abnormal cortical vessels in this 3-kg patient. B: After splitting the sylvian fissure, an atrophic M2 MCA was identified for the anastomosis. C: The anastomosis was successfully completed. D: Flow is seen initially after removing the temporary clips.

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