March 03, 2020
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Infant presents with persistent ecchymosis

Examination found flat subconjunctival hemorrhage temporally in the left eye.

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A 7-month-old boy was brought by his mother to the New England Eye Center for evaluation of persistent left eye redness and left upper eyelid bruising. The mother noticed these findings 6 to 8 weeks earlier after the patient was hit by a stuffed toy on the left side of his face. There was no other history of trauma. The patient’s mother became concerned when the redness did not improve and presented to the pediatric ophthalmology clinic for evaluation.

Alison J. Lauter
Alison J. Lauter
Sarah E. Thornton
Sarah E. Thornton

The patient had no medical or surgical history and was born at term after an uncomplicated pregnancy. There was no significant family medical history. The patient had met all developmental milestones and had no recent changes in behavior, energy level or appetite.

Examination

On examination, the patient was able to fix and follow objects with each eye. The pupils were round and reactive with no afferent pupillary defect. Motility was full and symmetric. IOPs were within normal limits in each eye.

External photographs
Figures 1a and 1b. External photographs reveal faint yellow discoloration at the lateral edge of the left upper eyelid suggestive of resolving ecchymosis. There is flat subconjunctival hemorrhage temporally in the left eye.

Source: Jarod Santoro, MD, and Vicki Chen, MD

External examination revealed faint yellow discoloration suggestive of resolving ecchymosis at the lateral edge of the left upper eyelid (Figures 1a and 1b). There was no eyelid edema or ptosis. The region was palpated with no evidence of focal tenderness or masses. There was no proptosis or resistance to retropulsion. The right eye external examination was unremarkable.

Slit lamp examination was notable for flat subconjunctival hemorrhage temporally in the left eye. There were no other lesions or sequelae of trauma observed on anterior segment examination. Fundus examination was unremarkable bilaterally.

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Persistent periorbital ecchymosis

The differential diagnosis for persistent periorbital ecchymosis and subconjunctival hemorrhage in an infant is broad and may include traumatic, vascular and malignant etiologies. This clinical picture should raise concern for multiple conditions including arteriovenous malformation, hemangioma, lymphangioma, coagulopathy, neuroblastoma and rhabdomyosarcoma. Non-accidental trauma may also be considered as appropriate based on history and clinical examination findings.

Additional workup

Given the possibility of malignancy in this case, the patient was sent urgently for an orbital MRI with and without contrast under sedation. He also underwent laboratory testing including complete blood count, prothrombin time and partial thromboplastin time.

The orbital MRI revealed a mass in the greater wing of the left sphenoid bone with mass effect on the lateral rectus muscle and left temporal lobe (Figure 2). The cervical lymph nodes were enlarged. There were several enhancing facial soft tissue nodules and a small lytic calvarial lesion.

MRI
Figure 2. MRI of the orbits reveals a large lesion in the greater wing of the left sphenoid bone with mass effect on the lateral rectus muscle and left temporal lobe.

The patient was sent for abdominal ultrasound, which showed a large heterogeneous right suprarenal mass concerning for neuroblastoma and a small lesion in the liver suspicious for metastatic disease. The patient underwent laparoscopic biopsy of the adrenal mass, which confirmed the diagnosis of neuroblastoma. He was sent for metaiodobenzylguanidine (MIBG) scintigraphy with future plans for systemic chemotherapy.

Discussion

Neuroblastoma is the most common extracranial solid tumor among children younger than 5 years of age. It is the second most common malignant orbital tumor in children after rhabdomyosarcoma. Neuroblastomas are derived from neural crest cells and originate in the adrenal medulla or paraspinal sites where sympathetic nervous system tissue is present. Orbital metastases are observed in 10% to 20% of cases. Ophthalmic manifestations of neuroblastoma may include periorbital ecchymosis, proptosis, ptosis, Horner syndrome, opsoclonus-myoclonus, ocular motility defects and vision loss.

While the prognosis for neuroblastoma patients has improved with newer therapies, the 5-year survival rate for those presenting with metastatic disease is less than 50%. The age at diagnosis is critical for risk stratification as patients diagnosed before age 18 months tend to have a more favorable prognosis.

The diagnostic workup for neuroblastoma includes urine testing for vanillylmandelic acid, homovanillic acid and dopamine levels. Abdominal imaging is warranted to assess the location of the primary tumor and detect whether metastatic disease is present. MIBG scintigraphy is performed as part of an initial workup and may be repeated to monitor response to treatment. Biopsy can confirm the diagnosis and provide additional prognostic information to guide treatment.

Management for neuroblastoma is highly variable depending on the risk stratification level of each patient. Treatment may include surgery, chemotherapy, radiation or observation alone.