Bladder Diverticula Caused by Occipital Horn Syndrome: A Case Report

Abstract

Objective – To present a case of a bladder diverticula that was found to be a part of occipital horn syndrome, a rare X-linked recessive connective tissue disorder due to a copper transport defect (OMIM 304150). The syndrome is considered to be a milder variant of Menkes disease, with variable prognosis but substantially longer life expectancy. Case reports - We report the case of an eight-year-old boy with occipital horn syndrome who has a large bladder diverticula as a part of a connective tissue disorder. Diagnosis was based on the clinical features (hypotonia, hypotrophia, hyperextensible joints, hyperelastic, bruisable skin, psychomotoric development delay, recurrent UTI, large bladder diverticula), supported by low serum copper and ceruloplasmin levels, and confirmed by identification of mutations in the ATP7A gene (duplication in exons 11 and 12) at the age of 2 years. Conclusion - Large bladder diverticula can be a part of an underlying connective tissue disorder. Our case showed a boy with large bladder diverticula as part of occipital horn syndrome, a rare X-linked connective tissue disorder caused by a deficiency in the transport of copper, associated with mutations in the ATP7A gene. As bladder diverticula can be part of an underlying connective tissue disorder, it should be excluded in such patients presenting with a urinary tract infection.