From the Guidelines
Neuroblastoma commonly presents as an abdominal mass in children, often accompanied by pain, distension, and constipation, and can also exhibit constitutional symptoms like fever, weight loss, and irritability, as noted in the most recent guidelines 1. The most frequent site is the adrenal gland, though it can arise anywhere along the sympathetic chain. Patients may exhibit a range of symptoms, including:
- Loss of appetite
- Weight loss
- Irritability
- Constipation
- Fever
- Hypertension
- Anemia
- Paralysis
- Bruising or swelling around the eyes
- Bone pain
- Pancytopenia Advanced disease often presents with metastatic manifestations, including periorbital ecchymosis ("raccoon eyes"), proptosis, bone pain, limping, or respiratory symptoms from chest involvement. Paraneoplastic syndromes can occur, including opsoclonus-myoclonus syndrome (dancing eyes, dancing feet) and intractable diarrhea from vasoactive intestinal peptide secretion, as described in the guidelines 1. Infants under 18 months typically have more favorable outcomes than older children. Diagnosis involves imaging (CT, MRI, MIBG scan), urine catecholamine metabolite testing (VMA, HVA), and tissue biopsy for histological confirmation and genetic analysis, as recommended by the NCCN guidelines 1. Risk stratification considers age, stage, histology, and genetic factors like MYCN amplification, which significantly impacts prognosis and treatment approach, as noted in the guidelines 1. Early recognition is crucial as presentation varies widely depending on the primary tumor location and extent of disease.
From the Research
Common Presentations of Neuroblastoma
The common presentations of Neuroblastoma, a malignant tumor of the sympathetic nervous system, include:
- Abdominal mass, which is the most common clinical presentation, often accompanied by abdominal pain [(2,3,4,5,6)]
- Lumbar pain, as seen in a 68-year-old male patient 2
- Asthenia, loss of weight, and altered general status, also observed in the same patient 2
- Cervical lymph nodes enlargement, fever, and joint pain, as reported in a 4-year-old female patient 3
- Retroperitoneal lump and pain, commonly seen in adult patients [(4,5)]
- Abdominal discomfort, as reported in a 20-year-old female patient 5
- Paraneoplastic syndromes and disseminated metastatic disease, which can cause various clinical presentations 6
Uncommon Presentations
Some cases of Neuroblastoma may present without a primary tumor, as seen in a 4-year-old female patient 3 In rare cases, Neuroblastoma can present as a giant adrenal mass, as reported in a 35-year-old male patient 4 Adult Neuroblastoma can also present in the retroperitoneum, as seen in a 20-year-old female patient 5