A 13-month-old girl is brought to the office by her mother due to concern about bruising. The mother first noticed bruising around her daughter's eyes 2 weeks ago after the patient returned from a weekend at her father's house. She recently started walking and falls frequently; the bruising was attributed to bumping her head on a coffee table. The bruising has since been persistent, and there is no other notable bruising on her body. The patient has no fever, vomiting, diarrhea, cough, or congestion. Three weeks ago, the patient recovered from influenza. The girl's parents are divorced, and she spends most weekends with her father. Weight is 9 kg (20 lb), down from 9.5 kg (21 lb) a month ago. On examination, the patient has rapid, jerking movements of both eyes with infraorbital ecchymoses bilaterally. The abdomen is mildly distended with a 6-cm (2.4-in) palpable, firm mass anterior to the left flank. Which of the following is the most likely diagnosis?
Neuroblastoma | |
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Diagnostic findings |
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Neuroblastoma is a childhood malignancy derived from primitive sympathetic ganglia and may arise anywhere along the sympathetic chain or within the adrenal medulla. Most cases are diagnosed at age <2, and classic presentation includes a palpable abdominal mass with systemic symptoms (eg, fever, weight loss).
Patients may also present with periorbital ecchymoses ("raccoon eyes"), which are caused by orbital metastases that obstruct palpebral blood vessels. Opsoclonus, or rapid eye movements, is a rare autoimmune paraneoplastic finding that may present in conjunction with myoclonus, or rhythmic jerking of the trunk or extremities, and is called opsoclonus-myoclonus syndrome.
(Choice A) Child abuse should be considered in any child with unexplained or patterned bruising. In particular, a basilar skull fracture can produce periorbital ecchymoses. This patient's opsoclonus and abdominal mass make neuroblastoma more likely.
(Choice B) Immune thrombocytopenia presents with petechiae, purpura, and/or bleeding, often following a viral illness. Opsoclonus and an abdominal mass are not features of immune thrombocytopenia.
(Choice C) Leukemia can present with unexplained bruising, weight loss, and abdominal distension due to hepatosplenomegaly. This patient has opsoclonus and a distinct abdominal mass, making neuroblastoma more likely.
(Choice E) Von Willebrand disease is the most common inherited bleeding disorder and presents with easy bruising or skin/mucosal bleeding. However, the isolated location of bruising in this patient, opsoclonus, and abdominal mass are inconsistent with von Willebrand disease.
(Choice F) Wilms tumor is the most common pediatric renal malignancy. Wilms tumor and neuroblastoma can present similarly with systemic symptoms and abdominal mass. However, periorbital bruising and opsoclonus are findings associated with neuroblastoma.
Educational objective:
Neuroblastoma is a childhood malignancy derived from primitive sympathetic ganglia. Classic presentation includes an abdominal mass and systemic symptoms (eg, weight loss). Other characteristic features include periorbital ecchymoses (ie, orbital metastases) and opsoclonus-myoclonus syndrome.