PMC5461567_01
Phenotypic characteristics of Kabuki Syndrome at 18-years-old include eversion of the lower eyekid, enlongates eyelid closurem arched eyebrows, long eyelashes and nasal tip facing down
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F1
At 8 years, KS was diagnosed due to characteristic phenotypic traits such as eversion of the lower eyelid, elongated eyelid closure, arched eyebrows, long eyelashes, nasal tip facing down, high palate, and large and protruding pinna and fingertips with fetal aspect [Figure 1].
Brain Magnetic Resonance Imaging (MRI) in axial contrasted T1 (a), T2 (b), Flair (c), Diffusion (d) and Apparent Diffusion Coefficient (e). Hyperintense T2 lesion on right posterior white matter unattended signal alteration or contrast enhancement on T1 or diffusion restriction. It is a quite unspecific, may suggesting a possible gliosis probably due to another (previous) ischemic injury. Note: There are some artefacts on (d and e) images due to magnetic susceptibility by the dental appliance
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F2
Magnetic resonance imaging (MRI) of the brain showed a hyperintense lesion in right posterior white matter, as shown in Figure 2.
Computer Tomography of Skull base in axial view. Presence of bilateral patent carotid canal (arrowheads in a) and a right patent carotid foramen (black star in b)
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F3
A brain computer tomography demonstrated a bilateral patent carotid foramen, indicating a noncongenital ICA occlusion [Figure 3].
Digital subtraction angiography (DSA) in frontal view. Occlusion of the right internal carotid artery (ICA) (a), with reperfusion of the right hemisphere by collaterals from the right external carotid artery (b), left ICA through anterior communicating artery(c) and temporal branches of posterior circulation (d)
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F4
ICA occlusion at the bulbar portion, with compensatory perfusion of the ipsilateral hemisphere through anterior communicating artery, external carotid artery, and temporal branches anastomoses from the posterior circulation [Figure 4], suggesting ICA dissection. Investigation of cardiologic and thrombophilic diseases were negative; her mother did not allow biopsy due to surgical risks (mainly visuals).
3D Computer Tomography Angiography (3D-CTA) after 2 years follow up. Coronal view with presence of cervical ICA bilateral flow (a). Lateral view of right cervical ICA, demonstrating a recanalization of the segment (arrows in b and c)
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F5
On 2-years follow-up, 3D-CTA identified complete spontaneous recanalization of ICA [Figure 5].