High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)

Table 2 comparison of neuroimaging features between RVCL-S, TD, and glioma

	CT	T1WI	T2WI/FLAIR	Diffusion restriction	Gd +	MRS	Other adjuncts
RVCL-S	Hypodense	Hypointense	Hyperintense	Central	Irregular rim	NAA ↓	Family history ( +)
	± calcification		Mixed		Punctate	Cho↑	Multisystemic symptoms ( +)
					Nodular	Lip peak	PET/CT may show decreased glucose uptake
					None		CSF profiling is normal
					None		Decreased cerebral blood perfusion on PWI
TD	Hypodense	Hypointense	Peripheral hypointense rim with central hyperintense signal	Peripheral	Open ring (more common)	NAA ↓	Ring enhancement co-localizing with T2W rim
		Mixed			Closed ring	Cho↑	Multiple ovoid lesions perpendicular to lateral ventricles
					Homogeneous	Cho↑	Multiple ovoid lesions perpendicular to lateral ventricles
					Patchy		Optic neuritis is more common than retinopathy
					Cotton-ball		OCB is more likely to be positive
					Nodular		PET/CT may show increased glucose uptake at the rim of the lesion with central hypometabolism
					None		Decreased cerebral blood perfusion on PWI
Glioma	Hypodense	Hypointense	Hyperintense	Heterogeneous central	Closed ring (more common)	NAA ↓	High cerebral blood perfusion on PWI
	Hyperdense	Isointense	Isointense	Incomplete peripheral	Central homogeneous	Cho↑	Hemorrhagic lesion may present
	Mixed	Mixed	Mixed		Central heterogeneous	Lip peak	PET/CT usually show increased glucose uptake
	± calcification	Mixed	Mixed		Central heterogeneous	Lip peak	PET/CT usually show increased glucose uptake

ISSN: 1750-1172