Concomitant ulcerative colitis and Usher syndrome in a Pakistani patient: A novel case report

Ulcerative colitis (UC) and Usher syndrome (USH) are debilitating diseases, compromising quality of life. Globally, half a million cases of UC have been reported, whereas USH is the leading cause of genetic deaf-blindness worldwide. The combined occurrence of both these diseases together is extremely rare. In this one-of-a-kind case report, we discuss the implication of a limited resource-setting on the diagnosis of those diseases. A 33-year-old Southeast Asian male, a known case of hepatitis C presented with a chronic reduction of vision and hearing loss and an acute presentation of loose stools, abdominal pain, and weight loss for 4-7 months. Raised inflammatory markers were reported with a C-Reactive Protein (CRP) level of 64.8 mg/dL. Ultrasound of the abdomen revealed mild abdominopelvic ascites. Colonoscopy showed multiple polyps and was biopsied to have fragments of colonic mucosa with moderate active colitis along with ulcer slough. A Computed Tomography (CT) scan with contrast of the abdomen and pelvis suggested thickened bowel, findings all suggestive of UC. For hearing and sight loss, fundoscopy showed retinitis pigmentosa (RP), and pure tone audiometry suggested bilateral sensorineural hearing loss. A probable diagnosis of mild UC and type II USH was made on clinical examination, radiological imaging, and histopathological sampling. UC and USH have genetic mutations that contribute to the disease manifestations; however, none occur mutually. UC has ophthalmic extraintestinal manifestations, but RP, which is the main reported manifestation in USH, is rarely reported in UC. Maximum efforts were exercised in diagnosing and managing the patient effectively despite the limited resources available. The coexisting USH and UC diagnosis in this patient presents as a rare case. More research is needed to further determine a shared immunological basis of the two disease etiologies and therapeutic advancement.