The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications
Ochoa syndrome is rare and its major clinical problems frequently unrecognized. We describe facial characteristics of six patients to help health professional recognize the inverted smile that these patients present and refer them to proper treatment. Patients’ medical records were reviewed and pati...
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| Format: | Article |
| Language: | English |
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Instituto Israelita de Ensino e Pesquisa Albert Einstein
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| Series: | Einstein (São Paulo) |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082015000200020&lng=en&tlng=en |
| _version_ | 1828889049291554816 |
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| author | Atila Victal Rondon Bruno Leslie José Murillo Bastos Netto Ricardo Garcia de Freitas Valdemar Ortiz Antonio Macedo Junior |
| author_facet | Atila Victal Rondon Bruno Leslie José Murillo Bastos Netto Ricardo Garcia de Freitas Valdemar Ortiz Antonio Macedo Junior |
| author_sort | Atila Victal Rondon |
| collection | DOAJ |
| description | Ochoa syndrome is rare and its major clinical problems frequently unrecognized. We describe facial characteristics of six patients to help health professional recognize the inverted smile that these patients present and refer them to proper treatment. Patients’ medical records were reviewed and patients’ urological status clinically reassessed. At last evaluation patients’ mean age was 15.5 years, and age ranged from 12 to 32 years. Mean follow-up was 35 months (12 to 60). Initial symptoms were urinary tract infections in four patients (67%) associated with enuresis and incontinence in three of them (50%). One patient had only urinary tract infection and two lower urinary tract symptoms without infections. Initial treatment consisted of clean intermittent catheterization with anticholinergics for all patients. Four patients (67%) were submitted to bladder augmentation. Two patients had end-stage renal disease during follow-up, one received kidney transplantation and one patient remained on the waiting list for a renal transplantation. Familial consanguinity was present in only one case. This significant condition is rare, but it must be recognized by pediatricians, nephrologists and urologists in order to institute early aggressive urological treatment. |
| first_indexed | 2024-12-13T12:33:56Z |
| format | Article |
| id | doaj.art-4db832ebcaa74faebc139e72c68ab205 |
| institution | Directory Open Access Journal |
| issn | 2317-6385 |
| language | English |
| last_indexed | 2024-12-13T12:33:56Z |
| publisher | Instituto Israelita de Ensino e Pesquisa Albert Einstein |
| record_format | Article |
| series | Einstein (São Paulo) |
| spelling | doaj.art-4db832ebcaa74faebc139e72c68ab2052022-12-21T23:45:56ZengInstituto Israelita de Ensino e Pesquisa Albert EinsteinEinstein (São Paulo)2317-638513227928210.1590/S1679-45082015RC2990S1679-45082015000200020The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complicationsAtila Victal RondonBruno LeslieJosé Murillo Bastos NettoRicardo Garcia de FreitasValdemar OrtizAntonio Macedo JuniorOchoa syndrome is rare and its major clinical problems frequently unrecognized. We describe facial characteristics of six patients to help health professional recognize the inverted smile that these patients present and refer them to proper treatment. Patients’ medical records were reviewed and patients’ urological status clinically reassessed. At last evaluation patients’ mean age was 15.5 years, and age ranged from 12 to 32 years. Mean follow-up was 35 months (12 to 60). Initial symptoms were urinary tract infections in four patients (67%) associated with enuresis and incontinence in three of them (50%). One patient had only urinary tract infection and two lower urinary tract symptoms without infections. Initial treatment consisted of clean intermittent catheterization with anticholinergics for all patients. Four patients (67%) were submitted to bladder augmentation. Two patients had end-stage renal disease during follow-up, one received kidney transplantation and one patient remained on the waiting list for a renal transplantation. Familial consanguinity was present in only one case. This significant condition is rare, but it must be recognized by pediatricians, nephrologists and urologists in order to institute early aggressive urological treatment.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082015000200020&lng=en&tlng=enDoenças urológicas/genéticaEnureseIncontinência urináriaSintomas do trato urinário inferiorBexiga urinária neurogênicaRelatos de Casos |
| spellingShingle | Atila Victal Rondon Bruno Leslie José Murillo Bastos Netto Ricardo Garcia de Freitas Valdemar Ortiz Antonio Macedo Junior The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications Einstein (São Paulo) Doenças urológicas/genética Enurese Incontinência urinária Sintomas do trato urinário inferior Bexiga urinária neurogênica Relatos de Casos |
| title | The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications |
| title_full | The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications |
| title_fullStr | The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications |
| title_full_unstemmed | The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications |
| title_short | The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications |
| title_sort | ochoa urofacial syndrome recognize the peculiar smile and avoid severe urological and renal complications |
| topic | Doenças urológicas/genética Enurese Incontinência urinária Sintomas do trato urinário inferior Bexiga urinária neurogênica Relatos de Casos |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082015000200020&lng=en&tlng=en |
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