An 8-month-old boy presents to the emergency department with a rightsided facial droop for 1 day and blackish bruising around both his eyes resembling raccoon eyes for a week. His mother reports that the childhadfallenfromacouch2weeks earlier. The child has also been fussy, withdecreasedfeedingfor3days.He has no history of fever, and findings from a review of his systems are otherwise unremarkable. Medicalhistory, family history, and social history are also unremarkable. On examination, the child is fussy but alert. Vital signs are normal: temperature, 98.7°F (37.0°C); heart rate, 108beatsperminute;respiratoryrate, 32 breaths per minute; and blood pressure, 98/60 mmHg. Anterior fontanelle is soft and flat. There is right-sided ptosis and drooping of the right side of the mouth, especially apparent when the child cries. There arenootherfocaldeficits,andtherest of the neurologic examination findings are normal. Ecchymoses are seen extending, approximately a centimeter, circumferentially around both eyes. The liver is firm and palpable 3 cm below the right costal margin. The rest of the physical examination findings are normal. Initiallaboratoryevaluationreveals the following: hemoglobin, 7.7 g/dL (77 g/L); mean corpuscular volume, 80.7 fL; white blood cell count, 12,390/mL (12.39 109/L); and platelet count, 298 103/mL (298 109/L). Computed tomography (CT) of the head without contrast revealsnoevidenceofintracranialbleeding. Further investigations reveal an
explanation for the child’s constellation of symptoms and anemia.
What do you think these investigations which have been requested?
What is your diagnosis?
ANSWER
The findings of raccoon eyes, normocytic anemia, and hepatomegaly prompted abdominal ultrasonography, followed by CT of the abdomen and pelvis with contrast, which revealed a left suprarenal mass and masses in the liver suggestive of metastasis.
Excisional biopsy of the mass confirmed the diagnosis of neuroblastoma with favorable histologic features, and there was no amplification of the N-myc gene.
Urine catecholamine studies revealed elevation of the vanillylmandelic acid to creatinine ratio, homovanillic acid to creatinine ratio, and dopamine to creatinine ratio.
Bilateral bone marrow biopsies revealed metastatic neuroblastoma.
A meta-iodobenzylguanidine scan revealed marked uptake in the temporal bones bilaterally, which explained the right facial nerve paralysis. The scan also showed increased uptake in the liver, left suprarenal mass, skull base, ribs, vertebral column, and the long bonesoftheupperandlowerextremities. These findings confirmed the diagnosis of a stage IV neuroblastoma.
Facial nerve paralysis is most commonly idiopathic, in which case it is called Bell palsy.
Known causes of nerve VII paralysis include the following:
(1) infections such as herpes zoster reactivation, herpes simplex virus, Lyme disease, and human immunodeficiency virus
(2) central nervous system disorders such as stroke and Guillain-Barre syndrome
(3)conditions such as mastoiditis and cholesteatoma
(4) neoplasms such as parotid gland tumors,centralnervoussystemleukemia, and tumors with central nervous metastasis
(5)sarcoidosis(Heerfordtsyndrome)
(6) head injury.
Raccoon eyes or bilateral ecchymoses are a classic presentation of neuroblastoma, seen because of periorbital hemorrhage caused by orbital metastasis. However, raccoon eyes are most commonly caused by basal skull fractures or basilar head bleeds and should raise a red flag for child abuse.
Normocytic anemia in infancy can be due to transient erythroblastopenia of infancy, bacterial or viral infections, hemorrhage, red blood cell membrane or enzymatic defects, bone marrow disorders, and hemolysis due to hemoglobinopathies. Isolated normocytic anemia should also raise suspicion for a malignant tumor as in our patient, who likely had hemorrhage in his tumor.
ANSWER
The findings of raccoon eyes, normocytic anemia, and hepatomegaly prompted abdominal ultrasonography, followed by CT of the abdomen and pelvis with contrast, which revealed a left suprarenal mass and masses in the liver suggestive of metastasis.
Excisional biopsy of the mass confirmed the diagnosis of neuroblastoma with favorable histologic features, and there was no amplification of the N-myc gene.
Urine catecholamine studies revealed elevation of the vanillylmandelic acid to creatinine ratio, homovanillic acid to creatinine ratio, and dopamine to creatinine ratio.
Bilateral bone marrow biopsies revealed metastatic neuroblastoma.
A meta-iodobenzylguanidine scan revealed marked uptake in the temporal bones bilaterally, which explained the right facial nerve paralysis. The scan also showed increased uptake in the liver, left suprarenal mass, skull base, ribs, vertebral column, and the long bonesoftheupperandlowerextremities. These findings confirmed the diagnosis of a stage IV neuroblastoma.
Facial nerve paralysis is most commonly idiopathic, in which case it is called Bell palsy.
Known causes of nerve VII paralysis include the following:
(1) infections such as herpes zoster reactivation, herpes simplex virus, Lyme disease, and human immunodeficiency virus
(2) central nervous system disorders such as stroke and Guillain-Barre syndrome
(3)conditions such as mastoiditis and cholesteatoma
(4) neoplasms such as parotid gland tumors,centralnervoussystemleukemia, and tumors with central nervous metastasis
(5)sarcoidosis(Heerfordtsyndrome)
(6) head injury.
Raccoon eyes or bilateral ecchymoses are a classic presentation of neuroblastoma, seen because of periorbital hemorrhage caused by orbital metastasis. However, raccoon eyes are most commonly caused by basal skull fractures or basilar head bleeds and should raise a red flag for child abuse.
Normocytic anemia in infancy can be due to transient erythroblastopenia of infancy, bacterial or viral infections, hemorrhage, red blood cell membrane or enzymatic defects, bone marrow disorders, and hemolysis due to hemoglobinopathies. Isolated normocytic anemia should also raise suspicion for a malignant tumor as in our patient, who likely had hemorrhage in his tumor.
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