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Updated: May 11, 2026

A Coregistered Ultrasound and Photoacoustic Imaging Protocol for the Transvaginal Imaging of Ovarian Lesions

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Scintigraphy in Ochoa syndrome.

Jose Rafael Infante¹, Juan I Rayo, Justo Serrano

¹Department of Nuclear Medicine, Infanta Cristina Hospital, Badajoz, Spain. infantetorre@yahoo.com

Clinical Nuclear Medicine

|May 24, 2013

Summary

Ochoa (urofacial) syndrome, a rare genetic disorder, causes bladder dysfunction and distinctive facial expressions. This case highlights significant kidney damage, including scarring and obstruction, in a young patient.

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In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography

In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography

Published on: July 24, 2020

Area of Science:

Pediatric Nephrology
Medical Genetics
Nuclear Medicine

Background:

Ochoa (urofacial) syndrome is an extremely rare autosomal recessive disorder.
It is characterized by non-neurogenic bladder dysfunction and unusual facial expressions during smiling or crying.
Over 150 cases have been reported in medical literature.

Observation:

A case study of a young boy with symptoms consistent with Ochoa (urofacial) syndrome is presented.
The patient exhibited a history of incontinence and frequent urinary tract infections.
Gene mutations confirmed the diagnosis of Ochoa (urofacial) syndrome.

Findings:

Radionuclide renogram and renal scan revealed extensive bilateral renal scarring.
Diuretic renogram demonstrated an obstructive pattern in the kidneys.
Nuclear medicine imaging provided crucial insights into the renal complications.

Implications:

This case underscores the severe renal sequelae associated with Ochoa (urofacial) syndrome.
Early diagnosis and monitoring are crucial for managing bladder dysfunction and preventing kidney damage.
Further research into the genetic basis and long-term renal outcomes is warranted.