Two siblings with unbalanced t(10;21) translocations and non-neuropathic neuropathic bladder

• Published in: BMJ Case Reports Vol. 2014
• Main Authors: Thyoka, Mandela, Henderson, Alex, Starzyk, Bozena, Lall, Anupam
• Format: Report
• Language: English
• Published: BMJ Publishing Group Ltd 07-02-2014
• ISSN: 1757-790X
• DOI: 10.1136/bcr-2013-201757

We describe an unusual case of two siblings, aged 5 years and 5 months, with an unbalanced t(10;21) translocation and concomitant non-neuropathic neuropathic bladder abnormalities, whose father was a known balanced carrier of the translocation, t(10;21). Postnatally both siblings had normal spine and neurological examination. However, ultrasound scans and micturition cystourethrograms revealed grossly distended non-neuropathic neuropathic bladder. In both siblings, the bladder abnormalities responded to clean intermittent catheterisation. On follow-up, dimercaptosuccinic acid scans for both siblings showed equal split function with no scarring.