Blue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review

Abstract

Blue rubber bleb nevus syndrome (BRBNS), also called Bean's syndrome, is a rare disease associated with multiple venous malformations in the skin and gastrointestinal (GI) tract. Dermatological lesions, which are the first clinically visible manifestations, appear as skin-colored compressible protuberances or as dark-blue venous nodules, rubbery in consistency. Central nervous system (CNS) manifestations are rare, variable, non-specific, and tend to occur late in the disease, mainly reported as seizures and focal neurological deficits secondary to compression. Most cases occur sporadically, however, an autosomal dominant inheritance pattern has been reported. A 74-year-old male with history of focal epilepsy secondary to possible neurocysticercosis presented at the emergency department due to sudden onset of aphasia, left central facial paralysis, and dysphagia secondary to catastrophic intracerebral hemorrhage. Cerebral MRI showed multiple cerebral cavernous malformations (CCM)-like lesions and, on the general exploration, multiple dark-blue nodules, rubbery in consistency. One week later he died due to complicated pneumonia; a brain autopsy was performed showing multiple vascular malformations. His son had a history of focal epilepsy presumed to be related to neurocysticercosis. He had the same skin lesions and brain MRI pattern. Histological analysis of the skin lesions of the two cases showed venous vascular malformations. A non-systematic review was carried out, in which all case reports of blue nevus syndrome with neurological manifestations in adults were included.

Keywords: BRBNS; Bean's syndrome; blue rubber bleb angiomatosis; blue rubber bleb nevus syndrome; blue rubber-bleb nevus; cavernomas; central nervous system bleeding; central nervous system venous malformations.

Figure 1

(A) Macroscopic view of medium and dark-blue venous nodules affecting the patient's forehead. (B) Skin-colored compressible protuberances and a small, dark-blue venous nodule affecting the right forearm. (C) A sagittal view of a cranio-cervical computed tomography scan shows heavy, hyperdense, calcified lesions centered by a hypodensity. The diffuse white matter hypodensity represents severe edema with mass effect. (D) Hematoxylin and eosin staining of the lesions show light areas of dilated venous vessels and congestive, thin-walled veins internally coated by a layer of flat endothelial cells. The vascular channels are arranged in the superficial, middle and deep reticular dermis. Written informed consent was obtained from the participants for the publication of this case report.

Figure 2

(A) Sagittal section of the encephalon shows a cortico-subcortical intraparenchymal hemorrhage that destroyed the basal ganglia. A nodular lesion in the temporal cortex corresponds to an AVM (arrow). (B) Malformed and irregular intracortical vessels. Masson's trichrome stain x. (C) Axial T2-weighted MR (magnetic resonance) and gradient echo (GRE) images: bilateral supratentorial hypointense lesions, harboring a central hyperintensity, 1.2 to 1.6 cm. A heterogeneous tumoral lesion can be seen in the right frontal lobe (5.38 × 5.4 cm), with mass effect and medial displacement of both basal ganglia and ipsilateral ventricle. (D) A coronal view of a T1-weighted image with contrast shows hyperintense lesions, primarily located in the right frontal lobe, and a similar lesion in the temporal pole corresponding to AVM (arrows).

Figure 3

(A). Macroscopic view of skin-colored compressible protuberances in the cervical neck region simulating a lipoma (Blue arrow). (B) Macroscopic view of the left side of the chest showing small, dark-blue venous nodules (Blue arrow). (C,D) Axial gradient echo images, multiple lesions shown by red arrows.