J Neurocrit Care.  2023 Jun;16(1):39-42. 10.18700/jnc.230018.

Concomitant moyamoya syndrome and infratentorial arteriovenous malformation in a neurofibromatosis type 1 patient: a case report

• Ko E
• Hwang IJ
• Kim JW
• Lee JS
• Jung DE
• Yoo SW

• KMID: 2543391
• DOI: http://doi.org/10.18700/jnc.230018

Abstract

Background
Neurofibromatosis type 1 (NF1) is a genetic disorder with diverse phenotypic manifestations. Cerebral vasculopathy is one of the multisystem involvements often overlooked unless symptomatic.
Case Report
A 28-year-old male patient with prolonged NF1 complained of right-hand position-specific rhythmic tremor after surviving an ipsilateral cerebellar arteriovenous malformation (AVM) hemorrhagic transformation. Not only did he suffer rupture of the infratentorial vasculopathy but he also endured asymmetric supratentorial occlusive vessel changes in Moyamoya syndrome. Due to contralateral limb clumsiness, his right hemispheric vasculature was revascularized by encephaloduroarteriosynangiosis 13 years before the AVM rupture.
Conclusion
This case report describes exceptional NF1 CNS involvement where the cerebral vasculature had concomitant Moyamoya syndrome and unilateral cerebellar AVM in a single patient. Cerebral vasculopathy should be surveyed and adequately addressed during the follow-up of chronic NF1, as it can cause irreversible sequelae or can be life-threatening.

Keyword

Neurofibromatosis type 1; Moyamoya syndrome; Arteriovenous malformation; Cerebral vasculopathy

Figure

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  Fig. 1. Transfemoral cerebral angiography (TFCA) at age 15 years revealed asymmetric moyamoya vessels of (A) Suzuki grading III of the left and (B) VI of the right hemisphere, and (C) right cerebellar arteriovenous malformation (main feeder: right posterior inferior cerebellar artery; red arrow). (D) Postoperative TFCA; the superficial temporal artery-middle cerebral artery bypass flow (bypass conduit; red arrow) was well-preserved after 13 years.

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  Fig. 2. Transfemoral cerebral angiography at the time of rupture unveiled (A) three right anterior and posterior inferior cerebellar arteries and superior cerebellar artery supplying the vascular tuft, and (B) two were successfully embolized except posterior inferior cerebellar artery with residual flows (red arrow). Brain T2 weighted resonance imaging of the right infratentorial arteriovenous malformation displayed (C) the ruptured hemorrhage within its nidus at the initial and (D) partial resolution after 6 months.

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