Scintigraphy in Ochoa syndrome
| Autor: | Lucia Garcia, Jose R. Infante, Carmen Duran, Juan I. Rayo, Justo Serrano, Maria L. Dominguez |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Male
Urologic Diseases medicine.medical_specialty Pathology Urinary system Disease Gene mutation urologic and male genital diseases Scintigraphy Kidney medicine Humans Radiology Nuclear Medicine and imaging Child Radionuclide Imaging medicine.diagnostic_test Crying business.industry Urofacial syndrome Facies General Medicine medicine.disease Dermatology medicine.anatomical_structure Mutation Technetium Tc 99m Dimercaptosuccinic Acid Urologic disease medicine.symptom business |
| Zdroj: | Clinical nuclear medicine. 38(7) |
| ISSN: | 1536-0229 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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