A rare case of Bannayan-Riley-Ruvalcaba syndrome with concurrent arteriovenous malformation

Abstract

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a congenital, autosomal-dominant disorder characterized by a triad of macrocephaly, lipomatosis, and pigmentation of the glans penis. The symptoms of this rare syndrome vary greatly and include multiple hamartomatous polyps, macrocephaly, increased birth weight, developmental delay, and intellectual disability. Vascular abnormalities, including arteriovenous malformations (AVMs), have rarely been reported as part of the vascular manifestations associated with BRRS. Congenital AVMs can rarely progress, resulting in limb- or life-threatening complications. We present the case of a young man with BRRS diagnosed in childhood and presenting with three AVMs involving the right upper extremity and chest. We also provide a brief literature summary of reported cases of BRRS with AVMs. Our paper highlights the importance of recognizing and understanding the vascular manifestations in patients with BRRS. Knowledge of the association between BRRS and AVMs is crucial for guiding patient diagnosis and management, optimizing treatment strategies, and improving overall patient outcomes.

Keywords: Arteriovenous malformation; Bannayan-Riley-Ruvalcaba syndrome; Vascular malformation.

Fig 1

Right upper extremity arteriovenous malformation (AVM).

Fig 2

An example of hamartoma lesions on the patient's upper extremities, located on the left palm.

Fig 3

Transverse ultrasound image of the right arm (A) and forearm (B) showing arteriovenous malformations (AVMs) measuring 2.2 × 1.0 cm and 3.44 × 2.22 cm, respectively. Both sampled brachial (A) and radial (B) arteries had low resistive flow consistent with an AVM.

Fig 4

Transverse computed tomography angiogram of the right arm (A) and forearm (B) showing arteriovenous malformations (AVMs) measuring 2.2 × 1.0 cm and 3.44 × 2.22 cm, respectively. Arrows indicate brachial (A) and radial (B) arteries (at different planes) feeding into the AVMs.