Virchow–Robin spaces (VRS) are perivascular, pial-lined areas in the brain that surrounds small arteries and can be seen on brain magnetic resonance imaging. VRS are typically less than 5 mm in diameter and accepted as normal anatomical structures. VRS are usually asymptomatic, but if there is an expansion to the brain parenchyma, various clinical symptoms can be seen associated with the mass effect.
A 5-year-old boy presented with a complaint of developmental delay. He had relative macrocephaly, hair with a double crown, and clinodactyly of the middle phalanx of both the fifth fingers. He had dysmorphic facial features, including triangular face, frontal bossing, and low-set protruding ears. His neurologic examination revealed normal muscular tonus and normal deep tendon reflexes with clumsy gait. Metabolic screening tests, including tandem mass, urine organic acids, plasma, and urine amino acid profiles were also normal. The patient underwent MRI of the brain as a firstline investigation, and T2 images demonstrated an extensive involvement of the hemispheric, subcortical white matter with a cerebrospinal fluid intensity signal change suggestive of multilocular giant VRS. MR spectroscopy showed no significant signal peak. The karyotype analysis of the patient was 46 XY, and FISH for Angelman syndrome also revealed a normal result. In the 2-year follow-up, the patient showed no neuromotor deterioration and radiological progression.
In conclusion, VRS must be differentiated from other cystic lesions of the brain. Phenotypic characteristics of our patient were not compatible with the previously defined syndromes.