Moyamoya syndrome associated with Down syndrome

Case contributed by Mohamed Saber
Diagnosis almost certain

Presentation

Mouth deviation and acute confusional status. A known case of Down syndrome.

Patient Data

Age: 15 years
Gender: Female

Left frontoparietal para sagittal cortical and subcortical patchy and multifocal areas of diffusion restriction present a high signal in DWI and a low signal in ADC consistent with a recent cerebral infarction (ACA territory and watershed).

Right frontal and ganglionic mainly the caudate nucleus multiple foci of old ischemic lesions and small vessel disease.

Prominent leptomeningeal vessels elicit a high signal on FLAIR concerning ivy sign.

Non-enhanced TOF MRA revealed the following:

Contrast-enhanced CT angiography revealed the following:

  • occlusion of the terminal right internal carotid artery immediately beyond the origin of the PCOM.

  • long segmental occlusion of the M1 segment of the right MCA

  • short segmental stenosis of the terminal left internal carotid artery and M1 segment of the left MCA

  • stenotic rather than hypoplastic A1 segments of the anterior cerebral arteries bilaterally

  • extensive collateral network is seen bypassing the stenotic segments

Case Discussion

Moyamoya syndrome is a term used when moyamoya disease occurs in association with numerous systemic conditions, in this case, is Down syndrome.

There are numerous theories on the cause of this association, the majority of which point to genetic predisposition 1.

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