- Department of Neurosurgery, SUNY Upstate Medical University, Syracuse, NY, USA
Eric M. Deshaies
Department of Neurosurgery, SUNY Upstate Medical University, Syracuse, NY, USA
DOI:10.4103/2152-7806.102944Copyright: © 2012 Yi JL. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
How to cite this article: Yi JL, Galgano MA, Tovar-Spinoza Z, Deshaies EM. Coil embolization of an intracranial aneurysm in an infant with tuberous sclerosis complex: A case report and literature review. Surg Neurol Int 27-Oct-2012;3:129
How to cite this URL: Yi JL, Galgano MA, Tovar-Spinoza Z, Deshaies EM. Coil embolization of an intracranial aneurysm in an infant with tuberous sclerosis complex: A case report and literature review. Surg Neurol Int 27-Oct-2012;3:129. Available from: http://sni.wpengine.com/surgicalint_articles/coil-embolization-of-an-intracranial-aneurysm-in-an-infant-with-tuberous-sclerosis-complex-a-case-report-and-literature-review/
Background:Tuberous sclerosis (TS) is a multiorgan neurocutaneous syndrome. Vascular manifestations are often extracranial. There is a paucity of cases involving TS combined with intracranial aneurysms reported in the literature. As a result, treatment has not been well described.
Case Description:We report the case of a 13-month-old female infant with a prior diagnosis of TS that was found to have new onset of left eye ptosis, anisocoria, and papillary mydriasis indicative of left third cranial nerve palsy. A magnetic resonance angiogram (MRA) of the brain revealed a left internal carotid artery (ICA) aneurysm. Endovascular embolization was determined to be the best option for treatment. After a successful balloon test occlusion with neuromonitoring, the left internal carotid artery was sacrificed via coil embolization.
Conclusions:This is only the third case report of endovascular coil embolization of an intracranial aneurysm in an infant with TS. We report no complications during the procedure, and the patient was discharged with resolving left third cranial nerve palsy. Neither surgical nor endovascular outcomes have been well described in the literature. Follow-up on this patient will be useful for establishing protocols of treatment.
Keywords: Hamartin, intracranial aneurysm, tuberin, tuberous sclerosis
Tuberous sclerosis (TS) is a neurocutaneous syndrome that is inherited in an autosomal dominant pattern or can arise from a spontaneous mutation. Mutations in the TSC1 and TSC2 genes are responsible for TS.[
We present the case of a 13-month-old female infant with a diagnosis of TS who was born term at 37 weeks gestation to a healthy mother who had an uncomplicated pregnancy. At 3 months of age, she presented with new-onset seizures characterized by leftward head deviation and rhythmic facial, oral, and extremity movements. Further evaluation revealed ash-leaf hypopigmented macules, subependymal tubers on brain magnetic resonance imaging (MRI), and rhabdomyomas on echocardiography. A diagnosis of TS was made and the seizures were treated with levetiracetam for almost 1 year. Subsequently, the patient developed myoclonic activity with an EEG pattern consistent with modified hypsarrhythmic activity leading to the diagnosis of infantile spasms. She was then treated with adrenocorticotropic hormone (ACTH).
The patient presented now at 13 months with new onset of left third cranial nerve palsy, ptosis, and mydriasis, consistent with ipsilateral third cranial nerve palsy. MRI now showed the interval development of a left cavernous sinus lesion suspicious for an aneurysm [
MRI at initial diagnosis (a) Axial T2-weighted fluid-attenuated inversion recovery (FLAIR) MRI showing features of tuberous sclerosis, including white matter radial migration lines and cortical tubers. MRI at presentation of cranial nerve deficits (b) Axial T2-weighted FLAIR MRI showing an 18-mm left cavernous sinus internal carotid artery aneurysm
Due to the size of the aneurysm and its rapid development, it was decided that the aneurysm required treatment to prevent hemorrhage. Surgical intervention was deemed high risk for an aneurysm in this location at the skull base and within the cavernous sinus. Endovascular treatment was deemed to be the safer approach. However, because of the patient's age, combined stent–coil embolization with subsequent antiplatelet therapy in a child with a seizure disorder was deemed unsafe. Therefore, the treatment plan was to perform a balloon test occlusion (BTO) of the ICA, with or without extracranial-to-intracranial arterial bypass, followed by endovascular occlusion. If she passed the BTO with hypotensive challenge, then immediate coil embolization would be performed to occlude the entire aneurysm sac from the paraclinoid ICA segment distally to the cervical ICA proximally. If she failed the BTO, then a direct common carotid-to-M1 segment direct arterial bypass with radial artery grafting would be performed, followed by endovascular occlusion of the paraclinoid ICA segment distally to the cervical ICA proximally, to treat this aneurysm.
Under general anesthesia and using intraoperative neuromonitoring (somatosensory and motor-evoked potentials), the BTO was performed using a 3 × 7 mm HyperForm Occlusion Balloon System (ev3 Neurovascular, Irvine, CA, USA) positioned and inflated in the proximal ICA with 10 min of normotension followed by 10 min of hypotension (systolic blood pressures reduced to 70% of baseline) without changes in neuromonitoring signals [
There were no complications during the procedure and no changes in neuromonitoring signals during the embolization. The patient awoke with her baseline neurological examination and recovered in the pediatric ICU. A few days after the procedure, the patient was discharged home in stable condition with resolving third cranial nerve palsy. At 3-month follow-up visit, she was neurologically intact with no third nerve palsy, and MRA demonstrating durable aneurysm occlusion.
Tuberous sclerosis was first described by von Recklinghausen in 1862[
Clinical manifestations of TS vary widely, involve multiple organ systems, arise at distinct stages of development, and have highly variable phenotypic penetrance. Criteria for making the diagnosis of TS have been categorized into major and minor features, of which two major, or one major and two minor features are diagnostic [
While seizures and cerebral lesions are very common in TS, arterial aneurysms are infrequently encountered. Smaller caliber vessels appear to be more prone to involvement, but patients have presented with medium and large vessel involvement as well. Locations include the thoracic and abdominal aorta,[
Only 17 prior cases of intracranial aneurysms in TS have been reported in the literature.[
Due to the paucity of reported cases, treatment of cerebral aneurysms in TS patients has not been well described. One case of an extracranial aneurysm of the right carotid artery bifurcation was treated with open external carotid artery ligation and reanastamosis of the distal common carotid to the internal carotid arteries.[
Intracranial aneurysms are a rare finding in TS, but should be considered in patients with new cranial neuropathies. Neither surgical nor endovascular outcomes have been well described in the literature. We report the successful endovascular coil occlusion of a large fusiform aneurysm extending from the left cavernous to distal cervical ICA in a 13-month-old female infant with TS. Early resolution of the third cranial neuropathy without aneurysm recurrence suggests that this technique can result in excellent treatment outcomes.
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