Case history
Case history #1
A mother presents to her pediatrician with her 3-year-old son. She states that he has complained of leg pain, constipation, and fatigue for the past month. She also reports that he has had a decreased appetite and has lost weight. On examination, the child is cachectic, pale, and in obvious pain. Periorbital ecchymosis is seen. On palpation of the abdomen, a large mass is noted.
Case history #2
A full-term infant is admitted to the neonatal intensive care unit after his parents present to the emergency department reporting abdominal distention and fussiness in the infant. Hepatomegaly is noted on examination, as well as multiple subcutaneous skin nodules.
Other presentations
Signs and symptoms of neuroblastoma can be a direct result of mass effect of the primary lesion or the result of metastases; however, patients with localized disease may be asymptomatic.
If the primary lesion is in the upper portion of the thoracic outlet or cervical sympathetic chain, patients will often present with Horner syndrome (characterized by ptosis, miosis, anhidrosis) due to sympathetic nerve compression; or, superior vena cava syndrome (characterized by dyspnea, facial swelling, cough, distended neck/chest veins, edema of the upper extremities) due to mass effect on the vascular system.[1][5][6] If the tumor extends into the spinal canal, patients may present with signs of spinal cord compression including loss of bowel and bladder function, lower-extremity weakness, and back pain.
Patients with orbital metastases may present with periorbital ecchymosis (commonly referred to as raccoon eyes). If the disease has spread to the bone marrow, pallor, infections, and bleeding may be present. Paraneoplastic syndromes (i.e., opsoclonus-myoclonus ataxia [OMA] and tumor secretion of vasoactive intestinal protein [VIP]) may be present at diagnosis.[7] Rapid, dancing eye movements, rhythmic jerking of limbs/trunk, and ataxia are pathognomonic for OMA.[8] Patients with tumor secretion of VIP may present with profound secretory diarrhea.[9]
Patients may present with hypertension. Another presentation is a healthy newborn who is found to have an adrenal mass on routine prenatal imaging.
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