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Official publication of the Indian Society of Nephrology
 
CASE REPORT
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Ochoa syndrome – Neurogenic bladder with an inverted smile


 Department of Paediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Correspondence Address:
Varun Govindarajan,
Department of Paediatrics, Bangalore Medical College and Research Institute, Fort, K.R. Road, Bengaluru - 560 002, Karnataka
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijn.ijn_235_21

Ochoa or urofacial syndrome is a rare autosomal recessive syndrome with around 150 cases reported in the medical literature comprising of neurogenic bladder and facial abnormalities, culminating in obstructive uropathy and chronic kidney disease. We report a 5-year-old boy presenting to us with Stage IV chronic kidney disease with bilateral hydroureteronephrosis secondary to chronic urinary incontinence. His peculiar facial expression with a grimace while smiling suggested the diagnosis of Ochoa syndrome. He was managed conservatively for neurogenic bladder and is under follow-up. We wish to highlight this unique syndrome and the simplicity in making this syndromic diagnosis, just by appreciating abnormal facial expressions.


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    -  Govindarajan V
    -  Hanumanna AK
    -  Kumari VK
    -  Kariyappa M
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Indian Journal of Nephrology
Published by Wolters Kluwer - Medknow
Online since 20th Sept '07