Recurrent Transitional Cell Carcinoma in a Child With the Costello Syndrome

Abstract

Bladder epithelial tumors are uncommon in children. The Costello syndrome is a rare disorder that involves multiple congenital abnormalities, and affected patients may be at increased risk for tumor development. We report recurrent and multiple transitional cell carcinomas of the bladder in a girl with the Costello syndrome. To our knowledge this case represents the third report of transitional cell carcinoma associated with the Costello syndrome. CASE REPORT A 13-year-old girl was referred for routine clinical investigation of recurrent bladder tumor. The patient had previously undergone transurethral resection of transitional cell papillomas of the bladder at our clinic at ages 10 and 12 years. At birth she had sparse and curly hair, macrocephaly, a coarse facial appearance (large mouth with thick lips, low set ears, depressed nasal bridge, bulbous nose with anteverted nostrils, and palpebral ptosis and hypertelorism), and loose skin of the hands and feet. In addition, she had postnatal growth and psychomotor retardation, and an abnormal intraventricular septum and mild hypertrophic cardiomyopathy were noted in the neonatal period. However, results of standard chromosomal analysis were normal. Based on the facial features, clinical course, striking excess palmar skin and other abnormalities, she was diagnosed with the Costello syndrome at age 12 years by a pediatrician (fig. 1). On physical examination development was noted to be significantly delayed. At that time IQ was estimated to be about 60. However, she had no apparent urogenital defects or abnormalities. Results of urinalysis were normal and urine culture was sterile. Urine cytology was negative, but a rice grain sized mass in the bladder was observed on transabdominal ultrasonography. Excretory urography showed no abnormalities in the urinary tract and no urolithiasis. On subsequent cystoscopic examination a papillary pedunculated tumor 2 mm. in diameter was observed on the bladder dome (fig. 2). The mass was resected by transurethral endoscopy, and histological analysis revealed grade 1 papillary transitional cell carcinoma. At age 14 years the patient was found to have recurrent papillary masses on the bladder dome. These tumors were also resected, and histological findings once again were interpreted as grade 1 papillary transitional cell carcinoma. DISCUSSION