Cobb Syndrome, A Rare Disease – Case Report

Abstract

Cobb syndrome is a rare genetic disorder characterized by dermatomal pattern, with corresponding muscular, osseous, paraspinal, and/or spinal vascular lesions occurring at the same body somite (metamere). It is also known as spinal arteriovenous metameric syndrome (SAMS) and cutaneous meningospinal angiomatosis. We present a case of a 36 years old male presented to OPD with Complain of progressive weakness of Right upper limb for 5 years. On examination, Patient had large cutaneous port wine stain on the right side of the chest, nape of neck, and along the whole right upper limb in a dermatomal distribution with ulnar claw hand wasting of thenar muscles on right side. MRI cervical spine with contrast showed aggressive vertebral hemangioma involving anterior and posterior arch of C1 vertebra, vertebral body of C2 to C5, right half of vertebral body of C2 and C6 and right pedicle of C2 to C5 vertebra. Abnormal thickened and T2WI /STIR hyperintense skin and subcutaneous tissue involving right half of scalp and right half of neck which showing post contrast enhancement, possibility of subcutaneous hemangioma. Cobb syndrome was diagnosed based on the dermatomal distribution of the cutaneous vascular lesions and the corresponding vertebral, epidural, and paraspinal vascular lesions occurring at the same metamere. Treatment decision is guided by the patient’s symptoms and imaging features.