Differentials
Wilms tumor
SIGNS / SYMPTOMS
Hematuria.
Presence of congenital overgrowth syndrome (e.g., Beckwith-Wiedemann syndrome, Perlman syndrome, Sotos syndrome), or other syndrome such as Denys-Drash syndrome.
INVESTIGATIONS
CT or MRI abdomen/pelvis: renal mass with renal parenchyma stretching around the tumor (claw sign). Bilateral in 5% to 10% of cases.[56]
Ewing sarcoma
SIGNS / SYMPTOMS
Typically occurs in adolescents or young adults.
INVESTIGATIONS
Bone x-ray: periosteal detachment from the bone (Codman triangle); lesions typically arise from the diaphysis.
Biopsy: shows gene rearrangement and presence of fusion gene on fluorescence in situ hybridization (FISH)/reverse transcription polymerase chain reaction (RT-PCR).[57]
Rhabdomyosarcoma
SIGNS / SYMPTOMS
May present in a similar way to neuroblastoma.
Most common primary sites are the extremities and genitourinary system.
INVESTIGATIONS
Biopsy: FISH on biopsy sample shows PAX3-FOXO1 or PAX7-FOXO1 gene rearrangement for the alveolar subtype.[58]
Hepatoblastoma
SIGNS / SYMPTOMS
Presence of genetic syndrome associated with hepatoblastoma (e.g., familial adenomatous polyposis, Beckwith-Wiedemann syndrome, Li-Fraumeni syndrome, and trisomy 18).[59]
INVESTIGATIONS
Serum alpha-fetoprotein level: elevated.
CT or MRI abdomen/pelvis: hepatic mass.
Leukemia
SIGNS / SYMPTOMS
Fever (rare in patients with neuroblastoma).
Hepatosplenomegaly.
INVESTIGATIONS
CBC: typically shows pancytopenia; may also show leukocytosis.
Peripheral blood smear: leukemic lymphoblasts may be seen in acute lymphoblastic leukemia.
Bone marrow aspiration/biopsy: hypercellularity and infiltration, as well as other typical findings depending on the type of leukemia.
Hodgkin lymphoma
SIGNS / SYMPTOMS
Typically occurs in adolescents or young adults.
Lymphadenopathy.
Presence of B symptoms (i.e., weight loss, night sweats, unexplained fevers).
May have coexisting autoimmune disorder.
INVESTIGATIONS
Lymph node biopsy: presence of Hodgkin cells within appropriate background cellular milieu.[60]
Adrenal hemorrhage
SIGNS / SYMPTOMS
May occur in neonates as a result of delivery trauma, infection, or other causes.
Signs of adrenal insufficiency may be present.
INVESTIGATIONS
Ultrasound: shows adrenal hematoma.[61]
Rapid improvement over several weeks on serial ultrasounds.
Other adrenal tumors
SIGNS / SYMPTOMS
Adrenal cortical carcinoma or other primary adrenal/renal masses are extremely rare in this young population.
INVESTIGATIONS
Imaging and biopsy: confirm presence and type of tumor.
Other causes of opsoclonus-myoclonus ataxia (OMA)
Infections
SIGNS / SYMPTOMS
Rash may be present.
Fever.
INVESTIGATIONS
Blood culture: typically shows the causative bacterial organism.
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