Neuroblastoma in an infant with Down’s syndrome

Aim: In this study we show that Down’s syndrome may be accompanied by neuroblastoma. Patients and methods: A 15-month-old female infant with Down’s syndrome and congenital hypothyroidism was admitted to our hospital with abdominal distension. Abdomen ultrasound (US) and computed tomography (CT) revealed right abdominal mass. The level of urinary homovanillic acid was 498.2 mg/24 h (N: 2-7.4 mg/24 h), and the serum neuron specific enolase (NSE) level was 370 ng/mL (N: 4.7-17 ng/mL). Karyotyping revealed 47 XX+21 chromosome, consistent with the diagnosis of Down’s syndrome. Bone marrow aspirates revealed metastatic neuroblastoma. On the basis of these findings, the patient was diagnosed with stage IV neuroblastoma. The patient was treated as stage IV neuroblastoma according to our national neuroblastoma protocol which included 4 cycles of 2 different multidrug regimens and then the mass was totally removed. After the operation, two cycles of chemotherapy were administered. However, the patient died of pneumonia. Results: We here describe a case of Down’s syndrome associated with neuroblastoma. Conclusions: Neuroblastoma in Down’s syndrome is extremely rare. Although children with Down’s syndrome are protected by the S-100 b gene on chromosome 21, neuroblastoma can be seen in Down’s syndrome.