Neuroblastoma is a rare cancer primarily affecting young children. While it can arise anywhere, it often manifests in or around the eyes. Recognizing these early eye signs is important for timely medical evaluation.
What is Neuroblastoma
Neuroblastoma originates from immature nerve cells (neuroblasts) of the sympathetic nervous system. This system controls involuntary body functions like heart rate and digestion. It is the most common cancer diagnosed in infants, with most cases occurring in children under five.
These tumors can develop anywhere along the sympathetic nervous system, including the adrenal glands or nerve tissue along the spine in the abdomen, chest, or neck. While commonly starting in the abdomen, neuroblastoma can spread to other areas, such as bones, bone marrow, liver, and skin.
Identifying Early Eye Signs
When neuroblastoma affects the eye area, through direct tumor growth or metastasis, it manifests with several observable signs. Periorbital ecchymosis, or “raccoon eyes,” appears as bruising or dark circles around the eyes. This bruising occurs due to tumor spread to the bones around the eyes or hemorrhage from orbital metastases.
Proptosis, the bulging of one or both eyeballs, occurs when a tumor grows behind the eye. Ptosis, a drooping eyelid, may also be present, sometimes as part of Horner syndrome. Horner syndrome involves a constricted pupil and reduced sweating on one side of the face, often resulting from a primary tumor in the chest or neck pressing on sympathetic nerves.
Less frequently, heterochromia (differences in iris color) can occur, associated with congenital neuroblastoma affecting the cervical ganglion. Rapid, uncontrolled eye movements (opsoclonus) can also be present, often alongside muscle twitching and uncoordinated movements, a syndrome known as opsoclonus-myoclonus-ataxia (OMA). These signs can be subtle and mistaken for less serious conditions, making careful observation and medical consultation important.
Confirming a Diagnosis
Once early eye signs raise suspicion, medical professionals initiate diagnostic tests to confirm neuroblastoma. Imaging scans, such as magnetic resonance imaging (MRI) and computed tomography (CT) scans of the head and orbit, are primary tools to visualize tumors and determine their extent. These scans identify the presence and precise location of any masses.
A bone marrow biopsy is often performed to check for cancer cell spread, as neuroblastoma can metastasize to the bone marrow. This procedure involves taking a small sample of bone marrow, typically from the hip bone, for laboratory analysis. Urine tests also measure catecholamine levels, such as homovanillic acid (HVA) and vanillylmandelic acid (VMA). Elevated levels of these substances, produced by neuroblastoma cells, can indicate the disease.
Treatment Overview
Treatment plans for neuroblastoma, especially when involving the eyes, are tailored to each child based on the cancer’s stage and the child’s age. Chemotherapy is a common initial approach, using medications to shrink tumors and control cancer cell spread. This may be followed by surgery to remove the primary tumor if feasible and accessible.
Radiation therapy uses high-energy rays to destroy cancer cells, targeting remaining cells at the primary site or in metastatic areas. Immunotherapy, a newer treatment, helps the body’s immune system recognize and fight cancer cells. The goal of these varied approaches is to eliminate cancer cells, reduce tumor size, and improve the child’s overall health outcomes.