Abstract

Cohen syndrome is an extremely rare autosomal recessive disorder. A 12-year-old boy with Cohen syndrome applied to a primary health care center because of severe pain in the left groin and was diagnosed with epididymo-orchitis. Despite the administered the antibiotic treatment, pain increased. Therefore, the family brought the patient to the emergency department 16 h after the first diagnosis. The patient had mild mental retardation, myopia, and craniofacial dysmorphism, which are components of Cohen syndrome. There was no blood flow on the left testicle at color Doppler ultrasonography. Further, scrotal exploration was performed because of a high risk of torsion. The left testicle was torsioned, and the color was dark blue. Revascularization could not be achieved by detorsion; left orchiectomy and right testicular fixation were then conducted. In conclusion, to the best of our knowledge, this is the first reported case of testicular torsion in Cohen syndrome. If a patient with this syndrome has acute groin pain, testicular torsion should be immediately ruled out with Doppler ultrasonography. These patients may not clearly and correctly express themselves because of mild mental retardation. Moreover, detailed genitourinary, particularly testicular examination may clarify the omitted pathologies and make them well known in future in this syndrome.