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Bilateral Upper Eyelid Ecchymosis and Edema in a 13-Month-Old: Case Report
Researchers have reported a case of Bilateral Upper Eyelid Ecchymosis and Edema in a 13-Month-Old that has been published in Journal of American Medical Association.
According to history, a 13-month-old boy with an unremarkable medical history and no ocular history was brought to the emergency department by his parents for bilateral eyelid ecchymosis and edema for 1 month, as well as a mass on the right temporal area that was persistent for the past month and a half.
He had hit the right side of his head on a table 1 month before symptoms developed, but had no other recent trauma. The mass had not changed in size, was not tender, and had no other associated symptoms. His parents had not noticed any change in vision. At bedside, the patient was playful and in no acute distress.
On examination, he fixed and followed in each eye. His pupils were equal and reactive to light without afferent pupillary defect. Both eyes were soft to palpation and his extraocular movements were full.
Externally, his examination was notable for bilateral upper eyelid ecchymosis and edema, as well as a soft, well-circumscribed mass on the right temporal region. There was no obvious proptosis. He was also noted to have subconjunctival hemorrhage temporally on the right eye. Otherwise, findings of his anterior examination and dilated fundoscopic examination were normal.
Patient was diagnosed having Metastatic neuroblastoma. Brain/orbital imaging should be the next step. Bilateral orbital ecchymosis without trauma in a young child warranted suspicion for neuroblastoma. This, in addition to the temporal mass, prompted urgent imaging and full ophthalmologic examination.
Differential diagnoses include neuroblastoma, hematoma, rhabdomyosarcoma, hemangioma, cyst, or bleeding diathesis. While bleeding diathesis could cause ecchymosis and subconjunctival hemorrhage, the temporal mass indicates that the hemorrhages may represent a more ominous finding.
Neuroblastoma, a malignancy of neural crest origin, is the most common extracranial solid tumor in children. The incidence is 1 per 10 000 live births in the US. It commonly occurs in the adrenal medulla. Patients are usually asymptomatic, but may have generalized symptoms or anemia from spontaneous tumor hemorrhage. Symptoms generally occur due to tumor growth or metastases. Sites of metastasis include bone, bone marrow, liver, orbit and spinal cord, which cause bone pain, periorbital ecchymosis and proptosis, and progressive paraplegia. Only 8% of neuroblastoma cases present with orbital signs. Other findings included periorbital edema, subconjunctival hemorrhage, vision loss, and decreased ocular motility. Neuroblastoma can also cause a paraneoplastic syndrome leading to cerebellar dysfunction and opsomyoclonus.
Diagnostic workup includes computed tomography (CT) and/or magnetic resonance imaging, urine homovanillic and vanillyl mandelic acid tests, iodine-131-meta-iodobenzylguanidine (I-MIBG) scan for bone involvement, and bone marrow or primary tissue biopsy. Tissue is analyzed for cytogenetic aberrations ormolecularmarkers. Loss of 1p, 3p, and 11q, unbalanced gain of 17q, or amplification of MYCN protooncogene indicate poor prognosis. Treatment is based on age and extent of spread; this includes surgery, chemotherapy, and radiation.
Prognosis depends on age, stage, and risk stratification; stratification is complex and based on chromosomal aberrations, histopathology, and extent of spread (complete risk stratification is available in the cited reference). Neuroblastoma accounts for 15% of cancer-associated deaths in children, and patients older than 2 years have a worse prognosis. High-risk neuroblastoma is relegated to a 30% to 40% survival. Orbital metastasis are associated with poor prognosis and can be misdiagnosed as orbital fractures, child abuse, benign hemorrhages, or other tumors. Ophthalmologists can play a role in diagnosing neuroblastoma and should promptly refer to a pediatrician or oncologist when neuroblastoma is suspected.
CT head and orbits of the case patient showed multiple osseous lesions with intracranial and intraorbital extension. CT abdomen and pelvis revealed a right adrenal mass with liver and bone metastasis. Urine catecholamines were elevated. I-MIBG showed diffuse metastatic disease–stage M per International Neuroblastoma Risk Group classification. Biopsy of the adrenal mass showed poorly differentiated neuroblastoma with MYCN amplification. Bone marrow biopsy confirmed the diagnosis. Surgical intervention was deferred given diffuse metastasis and multiple orbital lesions. The patient started chemotherapy with topotecan and cyclophosphamide.
doi:10.1001/jamaophthalmol.2021.2110
Aishwarya Sriram, MD; Jamie B. Rosenberg, MD; Anne Barmettler, MD
Dr Ishan Kataria has done his MBBS from Medical College Bijapur and MS in Ophthalmology from Dr Vasant Rao Pawar Medical College, Nasik. Post completing MD, he pursuid Anterior Segment Fellowship from Sankara Eye Hospital and worked as a competent phaco and anterior segment consultant surgeon in a trust hospital in Bathinda for 2 years.He is currently pursuing Fellowship in Vitreo-Retina at Dr Sohan Singh Eye hospital Amritsar and is actively involved in various research activities under the guidance of the faculty.
Dr Kamal Kant Kohli-MBBS, DTCD- a chest specialist with more than 30 years of practice and a flair for writing clinical articles, Dr Kamal Kant Kohli joined Medical Dialogues as a Chief Editor of Medical News. Besides writing articles, as an editor, he proofreads and verifies all the medical content published on Medical Dialogues including those coming from journals, studies,medical conferences,guidelines etc. Email: drkohli@medicaldialogues.in. Contact no. 011-43720751