A large population-based North American study, in which most infants in Quebec were screened at the ages of 3 weeks and 6 months, has shown that screening detects many neuroblastomas with favorable characteristics [10,11] that would never have been detected clinically, apparently due to spontaneous regression of the tumors.
Another study of infants screened at the age of 1 year shows similar results.
The most common presentation of neuroblastoma is an abdominal mass. The most frequent signs and symptoms of neuroblastoma are due to tumor mass and metastases. They include the following:
Proptosis and periorbital ecchymosis: Common in high-risk patients and arise from retrobulbar metastasis.
Abdominal distention: May occur with respiratory compromise in infants due to massive liver metastases.
Bone pain: Occurs in association with metastatic disease.
Pancytopenia: May result from extensive bone marrow metastasis.
Paralysis: Because they originate in paraspinal ganglia, neuroblastomas may invade through neural foramina and compress the spinal cord extradurally. Immediate treatment is given for symptomatic spinal cord compression. (Refer to the Treatment of Spinal Cord Compression section of this summary for more information.)
Watery diarrhea: On rare occasions, children may have severe, watery diarrhea due to the secretion of vasoactive intestinal peptide by the tumor, or may have protein-losing enteropathy with intestinal lymphangiectasia. Vasoactive intestinal peptide secretion may also occur upon chemotherapeutic treatment, and tumor resection reduces vasoactive intestinal peptide secretion.
Presence of Horner syndrome: May be caused by neuroblastoma in the stellate ganglion, and children with Horner syndrome without other apparent cause are also examined for neuroblastoma and other tumors.
Subcutaneous skin nodules: Neuroblastoma subcutaneous metastasis often has bluish discoloration in the overlying skin and usually is seen only in infants.
The clinical characteristics of neuroblastoma in adolescents are similar to those observed in children. The only exception is that bone marrow involvement occurs less frequently in adolescents, and there is a greater frequency of metastases in unusual sites such as lung or brain.