We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Ochoa Syndrome -- Neurogenic Bladder with an Inverted Smile.
- Authors
Govindarajan, Varun; Hanumanna, Anil Kumar; Kumari, Vijayakumar Krishna; Kariyappa, Mallesh
- Abstract
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.
- Subjects
CHRONIC kidney failure; HYDRONEPHROSIS; NEUROGENIC bladder; FACE; FACIAL nerve diseases; URINARY incontinence
- Publication
Indian Journal of Nephrology, 2022, Vol 32, Issue 4, p384
- ISSN
0971-4065
- Publication type
Article
- DOI
10.4103/ijn.ijn_235_21