Ochoa Syndrome: An Overlooked Diagnosis A Case Report

Case Report

Austin J Clin Case Rep. 2023; 10(6): 1295.

Ochoa Syndrome: An Overlooked Diagnosis – A Case Report

Mário Nicolau Barros Jacobino*; Patrícia Barros Aquino Jacobino; Matheus Saraiva Lopes; Francisco Arisneto Avelino Fontenele Júnior

Specialist Clinical Medicine and Nephrology Department, Health Sciences Center, Federal University of Piaui, Brazil

*Corresponding author: Mario Nicolau Barros Jacobino Specialist Clinical Medicine and Nephrologoy Department, Health Sciences Center, Federal University of Piaui, Brazil. Email: mario_nicolau@hotmail.com

Received: June 26, 2023 Accepted: July 24, 2023 Published: July 31, 2023

Abstract

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.

Keywords: Ochoa; Urofacial; Kidney; Hemodialysis

Introduction

Ochoa Syndrome is a very rare clinical condition, characterized by inverted facial expression, resulting from abnormal contraction of the corners of the mouth and eyes, especially when smiling or crying, and urinary abnormalities. Patients with this syndrome are at greater risk of developing urinary incontinence, megacystosis, vesicoureteral reflux, hydroureteronephrosis, urosepsis and chronic kidney disease [1].

Ochoa syndrome can also be called urofacial syndrome, as it is characterized by the presence of functional obstructive uropathy in association with the inversion of facial expression when smiling. In addition, it affects both sexes, with consanguineous parents having a greater chance of having children with the pathology [2].

More recent studies on the syndrome show that mutations of autosomal recessive inheritance occur resulting from biallelic pathogenic variants with evidence of mutations in the gene Heparanase 2 (HPSE2), located in 10q23-q24, and in the gene LRGI2, located in 1p13.2 [1,3,4,5]. Despite not being well defined and clarified about the exact biological role of HPSE2 in patients with orofacial syndrome, its presence suggests a strong relationship in the genesis of the syndrome [4].

Diagnosis is based on investigations of the urinary tract that presents with characteristic abnormalities and physical examination that reveals facial movement typical of the condition. therefore, recognizing the disease and its pathophysiology is essential for early diagnosis and prevention of complications such as recurrent urinary tract infections and Chronic Kidney Disease (CKD) [1,6].

Case Presentation

Young woman, 22 years old, residing in the city of Barras, state of Piauí/Brazil, presented the first symptoms of the disease at the age of 5: urinary frequency and persistent urinary discomfort, which were treated only with symptomatic medications, in addition to urinary tract infections. recurrent Urinary Tract Infections (UTI), occurring at least twice in six months or three times in one year, which were treated with empiric cephalexin and antibiotic prophylaxis also with cephalexin.

There was an increase in the frequency and worsening of symptoms at 7 years of age, mainly related to episodes of recurrent UTIs. From 9 to 12 years of age, she was frequently hospitalized for symptoms of dysuria, urinary urgency and urinary frequency. At the age of 12, she underwent an ultrasound of the kidneys and urinary tract, which showed bilateral hydronephrosis, that is, an alteration due to incomplete and ineffective emptying of the bladder. During this period of time, there was a gradual decrease in diuresis, concomitant with a worsening of renal function, which led to the establishment of Stage V Chronic Kidney Disease, which is when the Glomerular Filtration Rate (GFR) is less than 15ml/min and the kidney is unable to maintain its basic functioning.

At the time, she was hospitalized and treated for UTI, and after a few days she was discharged with a recommendation for the use of Ampicillin (UTI prophylaxis) and intermittent bladder catheterization. After a few days, she returned to the hospital, as she had evolved with a new episode of dysuria, frequency and oliguria, she was hospitalized again, staying 14 days under treatment for UTI.

After a few months, he returned to the office again with dysuria, frequency, oliguria and the appearance of anasarca. Renal function tests were performed, which revealed urea of 237, creatinine of 7.6, metabolic acidosis, anemia (Hb 6.5) and positive urine culture for Klebsiella resistant to Ampicillin, Cefadroxil, Cephalotin, Ampicillin (UTI) sulbactan and Sulfamethoxazole + Trimetropin and urinalysis (EAS) with haemoglobin, numerous bacteria and severe pyuria. Given the test results, she was admitted to the health service in the Intensive Care Unit (ICU), where she received packed red blood cells for anemia, started treatment for UTI with ceftazidime and underwent her first hemodialysis session. She remained in the ICU for 6 days and was transferred to the Hospital ward. During her stay at the site, she underwent hemodialysis on alternate days, she underwent 14 days of treatment with ceftazidime with negative urinary symptoms and received the second concentrate of red blood cells. There were improvements in the signs and symptoms and she was discharged after 17 days in hospital, continuing to undergo hemodialysis on an outpatient basis.

He is currently 22 years old and has been undergoing hemodialysis for ten years. The recommended dry weight for the patient is 39.5 kg, however, due to poor adherence to dietary measures and water restriction, she attends hemodialysis sessions weighing approximately 43 to 44 kg. In addition to the dialysis treatment, she uses angiotensin receptor antagonists, alpha-2 adrenergic agonist and peripheral vasodilator, respectively: Losartan (50 mg, twice a day) and Clonidine (0.15 mg, twice a day) , both used to maintain stable systemic blood pressure and Hydralazine (50 mg, twice a day) also used to decrease blood pressure levels.

Physical examination showed the inverted face sign (Figure 1). It occurs when observing the face and asking the patient to smile, the presence of the inverted smile characteristic of the disease. Furthermore, he has nocturnal yogophthalmia (Figure 2). Clinical sign in which the patient keeps the eye slightly open during sleep.