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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

doi: 10.1097/RLU.0b013e318286bdd2
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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.

From the Department of Nuclear Medicine, Infanta Cristina Hospital, Badajoz, Spain.

Received for publication September 28, 2012; and revision accepted December 29, 2012.

Conflicts of interest and sources of funding: none declared.

Reprints: Jose Rafael Infante, PhD, Servicio de Medicina Nuclear, Hospital U. Infanta Cristina, Ctra. de Portugal s/n, 06080 Badajoz, Spain. E-mail: infantetorre@yahoo.com.

© 2013 by Lippincott Williams & Wilkins