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CASE REPORT
Two siblings with unbalanced t(10;21) translocations and non-neuropathic neuropathic bladder
  1. Mandela Thyoka1,
  2. Alex Henderson2,
  3. Bozena Starzyk3,
  4. Anupam Lall4
  1. 1Surgery Unit, UCL Institute of Child Health, London, UK
  2. 2International Centre for Life, Institute of Genetic Medicine, Newcastle upon Tyne, UK
  3. 3Department of Paediatric Radiology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
  4. 4Department of Paediatric Surgery, Royal Victoria Infirmary, Newcastle upon Tyne, UK
  1. Correspondence to Mandela Thyoka, m.thyoka{at}ucl.ac.uk, mandela.thyoka{at}gmail.com

Summary

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.

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