History and exam
Key diagnostic factors
common
age <4 years
The majority of neuroblastoma cases occur in children ≤4 years of age (34% in children <1 year; 49.9% in those ages 1-4 years).[12]
Median age at diagnosis is 17 months.[12]
Infants typically present with an asymptomatic adrenal mass detected on routine prenatal ultrasound. Patients with localized disease may also be asymptomatic.
abdominal mass
May be felt on palpation if the primary site is the abdomen.
pain
Abdominal pain is common if the primary site is the abdomen.
Bone pain is common in patients with metastatic disease. Back pain may indicate spinal disease. The presence of neurologic signs and symptoms may indicate spinal cord compression.
decreased appetite
Patients commonly present with general systemic symptoms which may indicate metastatic spread.
weight loss
Patients commonly present with general systemic symptoms which may indicate metastatic spread.
fussiness (infants)
Patients commonly present with general systemic symptoms which may indicate metastatic spread.
fatigue
Patients commonly present with general systemic symptoms, which may indicate metastatic spread.
periorbital ecchymosis (raccoon eyes)
Common in patients with orbital metastases.
uncommon
family history of neuroblastic tumors
Approximately 1% to 2% of patients have a family history of neuroblastoma.[13]
Most hereditary neuroblastomas are caused by alterations in the ALK (anaplastic lymphoma kinase) gene.[14] Germline PHOX2B (paired-like homeobox 2b) mutations are a relatively rare cause of hereditary neuroblastoma.[15][16]
signs of spinal cord compression
If the tumor extends into the spinal canal, patients may initially present with signs of spinal cord compression including loss of bowel and bladder function, lower-extremity weakness, and back pain.
signs of Horner syndrome
signs of superior vena cava syndrome
If the primary lesion is in the upper portion of the thoracic outlet or cervical sympathetic chain, patients will often present with 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]
intractable secretory diarrhea
May occur in patients with tumor secretion of vasoactive intestinal protein (VIP), a paraneoplastic syndrome associated with neuroblastoma.[9]
opsoclonus-myoclonus ataxia (OMA)
Paraneoplastic syndrome is sometimes associated with neuroblastoma. OMA (also known as opsoclonus-myoclonus syndrome) occurs in <3% of patients with neuroblastoma.[32]
In patients with OMA, nearly one half will be diagnosed with neuroblastoma; therefore, all children with OMA should be evaluated for neuroblastoma.[33] Rapid, dancing eye movements, rhythmic jerking of limbs/trunk, and ataxia are pathognomonic for OMA.[8]
Other diagnostic factors
common
constipation
Common presenting symptom. Usually secondary to mass effect of abdominal tumor.
uncommon
pallor
May indicate metastatic spread to bone marrow.
bleeding
May indicate metastatic spread to bone marrow.
infections
May indicate metastatic spread to bone marrow.
hypertension
Caused by mass effect of abdominal tumor, which may compromise renal vasculature resulting in alterations of the renin-activating system pathway, or may be a result of tumor-associated catecholamine secretion.[1]
Risk factors
weak
neurocristopathies or other syndromes
family history of neuroblastic tumors or genetic predisposition
Approximately 1% to 2% of patients have a family history of neuroblastoma.[13]
Most hereditary neuroblastomas are caused by alterations in the ALK (anaplastic lymphoma kinase) gene.[14] Germline PHOX2B (paired-like homeobox 2b) mutations are a relatively rare cause of hereditary neuroblastoma.[15][16]
Use of this content is subject to our disclaimer