Skip Navigation LinksHome > July 2013 - Volume 38 - Issue 7 > Scintigraphy in Ochoa Syndrome
Clinical Nuclear Medicine:
doi: 10.1097/RLU.0b013e318286bdd2
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Scintigraphy in Ochoa Syndrome

Infante, Jose Rafael PhD; Rayo, Juan I. PhD; Serrano, Justo PhD; Domínguez, María L. MD; García, Lucía MD; Durán, Carmen MD

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Abstract

Abstract: The Ochoa or urofacial syndrome is a disease characterized by non-neurogenic bladder dysfunction and unusual facial expressions when smiling or crying. It is an extremely rare disorder with over 150 cases reported in the medical literature. This condition has been determined to be inherited by an autosomal recessive pattern. We present radionuclide renogram and renal scan of a boy with a history of incontinence, frequent infections of the urinary tract, and gene mutations consistent with this syndrome. Nuclear medicine images showed extensive bilateral renal scarring and obstructive pattern in diuretic renogram.

© 2013 by Lippincott Williams & Wilkins

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