Bladder hamartoma: A unique cause of urinary retention in a child with goldenhar syndrome

Abstract

The bladder hamartoma is an extremely rare entity. We report on its presence in a 5-year-old boy with Goldenhar syndrome. Most probably, this is the first report of a bladder hamartoma presenting with obstruction of the bladder outlet resulting in urinary retention. The obstructive lesion was resected endoscopically. This proved to be curative for the lesion, since the follow-up voiding cysto-urethrogram revealed only a negligible post-void residual volume. Although urogenital anomalies have a well-known correlation with the Goldenhar syndrome, the existence of the bladder hamartoma found in association with this syndrome, according to the best of our knowledge, has not been previously reported in the world literature. With this report being only the 11 th described case of bladder hamartoma, we highlight on the management options for this exceptional histological finding. The incidence, screening, treatment decisions and important urogenital associations of the Goldenhar syndrome are also discussed.

Bladder hamartoma in Peutz-Jeghers syndrome: a rare case report

“…They are, however, extremely rare in the urinary bladder [8,9]. Since the first case reported by Davis in 1949 [10], only twelve cases (Table 1), to the best of our knowledge, have been reported in the literature up to now [11,12], with only one case found in the literature associated with PJS [13]. Most cases tend to occur near to the trigone [8,9], while the mass in our case was at the bladder neck.…”

“…Most cases tend to occur near to the trigone [8,9], while the mass in our case was at the bladder neck. The patients can present with hematuria, pyuria, suprapubic discomfort [12] and now even obstructive LUTS.…”

A Rare Case of Urinary Bladder Hamartoma Clinically Mimicking an Urothelial Carcinoma: A Case Report and Review of the Literature

“…One case was associated with urinary bladder schistosomiasis, 9 while another one was the subject of an in-utero prenatal diagnosis. 13 Interestingly, 33% of lesions (5/15), including the present one, arose in the context of specific syndromes, such as Peutz-Jeghers syndrome, 5 , 16 Beckwith-Wiedemann syndrome, 7 Goldenhar syndrome, 12 and, in our patient, Loeys-Dietz syndrome (LDS). LDS is an autosomal dominant connective disorder characterized by systemic involvement, mainly due to transforming growth factor beta ( TGFB ) ligand or receptor mutations.…”

Hamartoma of the urinary bladder in a 15-year-old boy

“…[3] Most of the patients had similar clinical presentations, with gross hematuria, dysuria, and mild suprapubic discomfort. [1,4] The size of the lesions may range from tiny growths to large masses. They are always solitary and may be located anywhere, although they favor the bladder dome or its posterolateral walls.…”

“…Alternatively, bladder hamartomas may be asymptomatic and be discovered incidentally on autopsy. [5] Bladder hamartomas might take place as an isolated entity or as part of a syndrome, including Goldenhar syndrome, [4] multiple hamartomatous syndrome or Cowden disease, [6] Peutz-Jeghers syndrome [7] or Beckwith-Wiedemann syndrome. [8] Most of these hamartomas arise from the bladder wall.…”