Ochoa syndrome: a spectrum of urofacial syndrome

Aydoğdu, Özgü; Burgu, Berk; Demirel, Fatih; Soygür, Tarkan; Özçakar, Z. Bı̇rsı̇n; Yalçınkaya, Fatoş; Tekgül, Serdar

doi:10.1007/s00431-009-1042-9

Cited by 29 publications

(22 citation statements)

References 6 publications

(18 reference statements)

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“…Elejalde reported this urofacial syndrome for the first time in 7 children and called the syndrome "Ochoa syndrome" [4]. Until now, several patients with UFS from various countries throughout the world have been reported [5][6][7][8][9]. The disease is characterized by diurnal or nocturnal enuresis, urinary tract infection, voiding dysfunctions resulting from neurogenic bladder, and renal insufficiency resulting from unilateral/bilateral vesicoureteral reflux together with voiding dysfunction.…”

Section: Wilms Tumor (Wt) Is the Most Common Form Of Renal Tumor In Cmentioning

confidence: 93%

Occurrence of Wilms Tumor in a Child with Urofacial (OCHOA) Syndrome

Emir

Kan

Demir

et al. 2011

Pediatric Hematology and Oncology

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Wilms tumor (WT) is the most common form of renal tumor in childhood. It has been known that a number of different clinical conditions and chromosome abnormalities accompany Wilms tumor [1,2]. Ochoa syndrome or urofacial syndrome (UFS) is a rare disorder characterized by dysfunctional urinary voiding, urinary tract infection, hydronephrosis, dysmorphic bladder, and dilatation of the ureter and pelvis [3][4][5]. Affected children are characterized by distinctive facial expression when they smile.No data are currently available regarding the development of Wilms tumor in Ochoa syndrome. In this study, we present the development of a Wilms tumor in a child with Ochoa syndrome.A 6-year-old girl admitted to our oncology department with a suspicion of a malignancy. Her past medical history indicated a hospitalization when she was 4 years old with a urinary tract infection. The ultrasonography at that time revealed bilateral grade III hydronephrosis and thickened and trabeculated bladder, suggesting an obstructive uropathy. The diagnosis of Ochoa syndrome had been considered due to neurogenic bladder and urinary incontinence and the presence of an inverted facial expression as she smiles. Familiy history revealed that her parents were first cousins and the patient's 2-year-old sister has been also diagnosed with Ochoa syndrome. Physical examination showed a smooth surfaced mass at the size of about 15 × 10 cm at the upper left quadrant. Additionally, inverted facial expression with grimacing while smiling (Figure 1) was observed. The examination of the other systems and her laboratory analyses were normal. Chromosomal analysis showed that the patient had a normal karyotype. Molecular genetic analysis revealed the absence of HPSE2 mutation for Ochoa syndrome. Abdominal ultrasonography and tomography showed a vascular hyperechoic mass 13 × 8 cm in dimension with a heterogeneous capsule. The mass was originating from the central and upper portions of the left kidney and extended vertically to the spleen and the pelvic region and compressed the renal pelvis. She underwent left nephrectomy and mass excision. Pathology confirmed Wilms tumor with blastemal component. Due to lymph nodes involvement in renal hilus, the tumor was considered

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Section: Wilms Tumor (Wt) Is the Most Common Form Of Renal Tumor In Cmentioning

confidence: 93%

Occurrence of Wilms Tumor in a Child with Urofacial (OCHOA) Syndrome

Emir

Kan

Demir

et al. 2011

Pediatric Hematology and Oncology

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“…They both had large trabeculated bladder without VUR and one also had high Scr as in our patient. Aydogdu et al reported 16 and 19 year old brothers with UFS, presenting with elevated sCr levels in their series (9). Five of nine cases reported by Varlam and Dippell had CRF and one had end-stage kidney disease (12).…”

Section: Discussionmentioning

confidence: 90%

“…However, there are still some UFS families the members of which had none of these mutations. In addition, some family members with the same mutation may have no grimacing but BD or may have no BD but just characteristic grimacing while their siblings have full-blown UFS in some series (3,9).…”

Section: Discussionmentioning

confidence: 99%

Chronic Kidney Disease in a Boy with Enuresis: The Diagnosis Behind the Smile

Demir

Hall²,

Newman³

2017

Turk Neph Dial Transpl

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A 13-year-old boy was admitted with enuresis. He had no history of urinary tract infection, daytime incontinence or fecal incontinence. Previously performed ultrasound had revealed bilateral hydroureteronephrosis and trabeculated bladder. Voiding cystoureterography had detected multiple diverticuli without reflux. Renal scan had revealed reduced uptake with multiple renal scarring and diuretic renogram had shown bilateral obstruction. Urodynamic evaluation had revealed non-compliant hyperactive bladder and significant residual volume. Laboratory tests had been consistent with chronic kidney disease and he had been referred to our clinic. On admission, he was diagnosed with urofacial syndrome, due to the grimacing expression while trying to smile on physical examination, and the diagnosis was further confirmed by genetic analysis during follow-up. This case was reported to increase the awareness of physicians about this rare cause of chronic kidney disease as early diagnosis is mandatory. Asking the patient to smile would easily lead to the diagnosis.Key WORdS: Urofacial syndrome, Chronic kidney disease, Enuresis, Children ÖzOn üç yaşında erkek olgu geceleri idrar kaçırma şikayeti ile başvurdu. Geçirilmiş idrar yolu enfeksiyonu, gündüz idrar kaçırma ya da dışkı kaçırma gibi şikayetlerinin olmadığını belirtti. Başvuru öncesi yapılan ultrasonografisinde bilateral hidroüreteronefrozunun olduğu ve mesanesinin trabeküle olduğu görüldü. İşeme sistoüretrogramında reflüsünün olmadığı ancak çoklu divertiküllerinin olduğu gözlendi. Diüretik renogramında bilateral obstrüksiyonu izlendi. Ürodinamik değerlendirmede kompliyansı düşük hiperaktif mesanesinin olduğu ve anlamlı miktarda rezidüel idrarının kaldığı görüldü. Laboratuvar testlerinin kronik böbrek hastalığı ile uyumlu olması üzerine olgu kliniğimize yönlendirildi. Başvurusunda olgunun fizik bakısında gülmeye çalışırken yüzünde gelişen ağlama/buruşma ifadesi nedeni ile ürofasyal sendrom tanısı aldı ve izleminde tanısı genetik olarak doğrulandı. Olgu, erken tanının önemli olduğu son dönem böbrek yetmezliğinin nadir nedenlerinden olan ürofasyal sendrom konusunda hekimlerin farkındalığını arttırmak amacı ile sunulmuştur. Hastadan sadece gülümsemesini istemek kolaylıkla tanıya götürmektedir.aNaHtaR SÖzCüKleR: Ürofasyal sendrom, Böbrek yetmezliği, Enürezis, Çocuk

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“…Ochoa's or urofacial syndrome, observed in both genders, includes a congenital NNNB together with an abnormal grimace upon smiling, laughing, or crying and bilateral weakness in the distribution of the facial nerve and, in the majority of these patients, nocturnal lagophthalmos, which is described as the inability to close the eyelids during sleep [123][124][125]. The urethral walls contract at the same time as the detrusor.…”

Section: Other Miscellaneous Incontinences Without Urologic or Neurolmentioning

confidence: 98%

Pediatric Bladder Disorders

Bérard

2014

Pediatric Nephrology

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Ochoa syndrome: a spectrum of urofacial syndrome

Cited by 29 publications

References 6 publications

Occurrence of Wilms Tumor in a Child with Urofacial (OCHOA) Syndrome

Occurrence of Wilms Tumor in a Child with Urofacial (OCHOA) Syndrome

Chronic Kidney Disease in a Boy with Enuresis: The Diagnosis Behind the Smile

Pediatric Bladder Disorders

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