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[Ochoa's syndrome in Argentine]
A F Bertolotti1, S G Tobia González, R M Etcheverry
1Unidad de Urología, Hospital de Niños de La Plata Sor Maria Ludovica, Provincia de Buenos Aires, Argentina. urologialaplata@hotmail.com
Summary
Ochoa syndrome, a rare genetic condition, presents with urinary issues and distinctive facial expressions. This study details three Argentine cases, highlighting its genetic basis and management challenges.
Area of Science:
- Pediatrics
- Genetics
- Urology
Background:
- Urofacial syndrome, also known as Ochoa syndrome, was first described in 1979.
- It is characterized by abnormal micturition, upper urinary tract dilatation, constipation, and a peculiar facial expression during smiling.
Observation:
- Three boys aged 2, 7, and 9 years presented at La Plata Children's Hospital with Ochoa syndrome.
- The boys were siblings, indicating a potential genetic component.
- All cases experienced enuresis.
Findings:
- The patients received clean intermittent catheterization, with one also treated with oxybutynin.
- Serum creatinine remained normal for three years of follow-up.
- The familial occurrence of the syndrome in three brothers strongly suggests a genetic etiology.
Implications:
- This report describes the first three cases of Ochoa syndrome documented in Argentina.
- The findings reinforce the genetic nature of urofacial syndrome.
- Early diagnosis and management, including clean intermittent catheterization, are crucial for patients with Ochoa syndrome.
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