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

Abstract

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

Childhood renal tumors: surgical treatment and results

“…In our study, one patient with WT (2.6%) had Beckwith-Wiedemann syndrome. Also, we observed one case of Ochoa syndrome, which was seen for the first time in the literature and previously reported by Emir et al (13), and one case of chromosomal breakage syndromes (WT together with hepatocellular carcinoma).…”

LRIG2 Mutations Cause Urofacial Syndrome

“…At the age of 6 years, she underwent a left nephrectomy for Wilms tumor. 13 At the age of 2 years, her younger sister, II:2, presented with enuresis and a low-capacity, overactive bladder and VUR and subsequently underwent bladder augmentation. Autozygosity mapping identified in chromosomal region 1p13.2 a 8.5 Mb segment overlapping that in family 1, and Sanger sequencing of LRIG2 identified homozygous nonsense mutation c.2125C>T (p.Arg709*) in exon 15.…”