Brachial artery aneurysm and bilateral posterior circulation strokes in a young child with tuberous sclerosis complex

Abstract

Although tuberous sclerosis (TS) may affect many organs, vascular manifestations involving medium- and large-size vessels are rare. We present a young child with known TS who presented with bilateral posterior circulation infarcts and subsequently was found to have right-hand ischaemia secondary to a thrombosed brachial artery aneurysm. A wound on his right middle finger failed to heal with conservative management, and digital subtraction angiography and MR angiogram demonstrated a lack of bypass target with microcollateral supply of the forearm only. The right middle digit ischaemia was initially managed with right middle finger disarticulation at the metacarpophalangeal joint, but the wound failed to heal and the patient proceeded to a thumb-sparing carpo-metacarpal amputation. Aneurysms, stenotic-occlusive disease and embolic stroke are rare but important complications of TS.

Keywords: Neuro genetics; Neuroimaging; Orthopaedics; Stroke; Vascular surgery.

Figure 1

(A) T2-weighted axial image demonstrating T2 hyperintensities of the posteroinferior right and left inferolateral cerebellar hemispheres (white arrows). (B) T2-weighted axial image demonstrating T2 hyperintensity of the superior left cerebellar hemisphere (white arrow); a pre-existing cortical tuber is also evident (dashed white arrow). (C) T2-weighted axial image demonstrating new T2 hyperintensity of the anterior superior right thalamus, in addition to pre-existing cortical tubers (dashed white arrows). (D) Diffusion-weighted image demonstrating restricted diffusion of the superior left cerebellar hemisphere lesion (white arrow), which was confirmed on the apparent diffusion coefficient map (E) (white arrow). The thalamic and other cerebellar lesions demonstrated in images A–C similarly showed restricted diffusion. (F) T1-weighted MPRAGE sequence demonstrating pial enhancement of the inferior right and inferolateral left cerebellar lesions (white arrows).

Figure 2

Reconstruction images of MR angiogram demonstrating anatomy and patency of the circle of Willis and intracranial vasculature (A) and neck vessels (B).

Figure 3

Digital subtraction angiography demonstrating (A) occlusion of the distal axillary artery and brachial artery by the thrombosed pseudoaneurysm (black arrow), the profunda artery provides collateral supply to the forearm (white arrow) and (B) poor opacification beyond the distal humerus with relative absence of the radial and ulnar arteries. (C) MR angiogram demonstrating fusiform expansion and occlusion of the brachial artery with enhancement surrounding the aneurysm (white arrow). There is early filling of the vein which is dilated and tortuous indicating an underlying arteriovenous communication. (D) T1-weighted fat-saturated postcontrast image demonstrating T1 hyperintense clot within the brachial artery aneurysm (white arrow).

Figure 4

MRI of posterior circulation infarcts on 5 days after initial MRI. (A) T2-weighted axial image demonstrating reduced T2 hyperintensity and mild volume loss of the posterior inferior right cerebellar and lateral inferior left cerebellar hemispheres(white arrows). (B) T2-weighted axial image demonstrating reduced T2 hyperintensity of the anterior superior right thalamus (white arrow); cortical tubers are shown as previously. (C and D) Diffusion weighted and apparent diffusion coefficient axial images demonstrating resolution of diffusion restriction of the superior left cerebellar infarct(white arrows).