Evolución de los pacientes pediátricos con diagnóstico  de hidronefrosis que consultaron al Hospital Universitario  San Vicente Fundación, Medellín, Colombia, entre 1960 y 2010

Tejada, María Paulina Vélez; Serna, L. Niño; Higuita, Lina María Serna; Gayubo, Ana Katherina Serrano; Echeverri, Catalina Vélez; Ruiz, Juan José Vanegas; Abaunza, Javier Mauricio Sierra; Piedrahita, Vilma María

doi:10.17533/udea.iatreia.14843

Cited by 2 publications

(1 citation statement)

References 22 publications

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“…Despite the variability, bladder dysfunction follows the same behavior in all clinical presentations. Clinical cases bring in their presentation the signs and symptoms that may be present in each patient, such as craniofacial abnormalities characterized by inverted smile [8,12], bladder dysfunction [9,10] and nocturnal lagophthalmos [11]. This is one of the rare cases reported in the state of Piauí, with a patient presenting the complete characteristics of the inverted face pathology and complications in the urinary tract.…”

Section: Discussionmentioning

confidence: 99%

Ochoa Syndrome: An Overlooked Diagnosis – A Case Report

Jacobino,

Lopes

et al. 2023

austinjclincaserep

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The Urofacial Syndrome or Ochoa is a very rare clinical condition, being unknown by a large part of the medical community; it is characterized by an inverted facial expression, resulting from abnormal contraction of facial and ocular muscles, especially when smiling, in addition to the presence of urinary abnormalities. Patients with this syndrome are at a higher risk of developing urinary incontinence, changes in the bladder, vesicoureteral reflux, hydroureteronephrosis, predisposition to severe urinary infections, in addition to chronic kidney disease. This article presents a case of a 22-year-old female, resident of Piauí/Brazil, who presented at the age of 5, the first symptoms of the disease mainly related to the urinary tract (such as: urinary frequency), in addition to the sign of inverted face, in which the patient presents the inverted smile characteristic of the disease when commanded to smile, associated with nocturnal logophthalmos. Patient evolved at 12 years of age, with end-stage chronic kidney disease and need for renal replacement therapy. This is one of the rare cases of the disease, in which the patient presents the complete characteristics of the inverted smile pathology and complications in the urinary tract. The inverted facial expression is an easily recognized sign, and it is a very characteristic finding of the disease, not finding explanations of morphological alterations or lesions. Therefore, it is evident that early diagnosis with institution of appropriate treatment, avoid possible damage to the urinary tract from childhood, allowing better management and quality of life in these patients.

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