Constipation Research Today is a free monthly online journal that collates and summarizes the latest research about Constipation, including details on infant, child, baby and toddler constipation, symptoms, causes, remedies.

Familial Currarino syndrome presenting with peripheral primitive neuroectodermal tumour arising with a sacral teratoma.

Sen G, Sebire NJ, Olsen O, Kiely E, Levitt GA

Department of Paediatric Oncology and Haematology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.

This report illustrates a rare genetic disorder, Currarino syndrome, in association with an unusual malignant transformation to a peripheral primitive neuroectodermal tumour within a sacral teratoma. The triad of features consists of a presacral mass, partial sacral agenesis and anorectal anomalies. The most common presentation is constipation. In this case there was a history of constipation, teratomas and spinal abnormalities in many of the family members over three generations. Detailed family history taken at time of initial presentation may have prevented delay in diagnosis and averted the need for intensive treatment, which may well cause late sequelae.

Published 26 November 2007 in Pediatr Blood Cancer, 50(1): 172-5.
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