A 9-month-old girl with a diaper rash is brought to the pediatric emergency department by her mother. The baby is afebrile with normal vital signs and is triaged to the fast track area.
Further history reveals an ongoing diaper rash for 1 month. The mother has tried changing brand of diapers, wipes and laundry detergent without any improvement. The child has not been seen by a primary care physician in several months and immunizations are delayed.
The child is happy, playful, smiling and non-toxic appearing with a noted left eyelid lag and intermittent strabismus. Her pupils are equal, round and reactive to light. The baby tracks objects well, but the left eye is exotropic and only follows intermittently. Fundoscopic exam reveals a normal red reflex in the right eye, and the left eye has no red reflex detected.
Heart, lung, abdominal and extremity exams are all normal. The perineum is angry red, excoriated with satellite lesions up the groin consistent with candidal diaper dermatitis.
Further questioning regarding the strabismus reveals that it has been present since birth and no providers have been concerned about it. The child has not seen an ophthalmologist. To further evaluate this strabismus, a CT scan was obtained which revealed a 2-cm densely calcified mass in the posterior aspect of the left globe, suspicious for retinoblastoma (see figure). The baby was transferred to a pediatric tertiary care hospital and was given nystatin for her diaper dermatitis.
CT scan revealed a mass that was suspicious for retinoblastoma.
The baby had enucleation surgery, which confirmed the diagnosis of retinoblastoma. Her disease had not progressed beyond the globe and her discharge plan included following up with a pediatric neuro-oncologist.
Strabismus (also called squint, cross-eyes, lazy eye, or wandering eye) is an intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. It can be seen in up to 5% of children, affecting boys and girls equally. If untreated, strabismus can cause amblyopia (a decrease in vision) and permanent loss of vision. Strabismus is treated with correction of any refractive error, an eye patch to equalize vision and, in some cases, surgery.1
Retinoblastoma is a relatively uncommon tumor of childhood arising from the retina. It accounts for approximately 3% of cancers occurring in children under age 15. The annual incidence in the United States is approximately 10 to 14 per 1 million children from birth to age 4. Ninety-five percent of cases are diagnosed before age 5 with two-thirds being diagnosed before age 2. Older age is usually associated with more advanced disease and poorer prognosis.2,3
One or both eyes may be affected. Other symptoms can include crossed eyes, double vision, eyes that do not align, eye pain and redness, poor vision and differing iris colors in each eye. Retinoblastoma is caused by a mutation in a gene controlling cell division, causing cells to grow out of control and become cancerous. Unilateral retinoblastoma in children younger than 1 year should raise concern for the hereditary disease, whereas older children with a unilateral tumor are more likely to have the nonhereditary form of the disease.3,4,5
In a little over half of the cases, this mutation develops in a child whose family has never had eye cancer. Other times the mutation is present in several family members. If the mutation runs in the family, there is a 50% chance that an affected person's children will also have the mutation. They will therefore have a high risk of developing retinoblastoma themselves. Patients with hereditary retinoblastoma have a markedly increased frequency of secondary malignant neoplasms such as osteosarcoma, soft tissue sarcomas or melanoma. It is also noted that patients with hereditary retinoblastoma have an increased risk of developing epithelial cancers in late adulthood such as lung and bladder.3,6,7
Treatment options depend upon the size and location of the tumor. Small tumors may be treated by laser surgery or cryotherapy. Radiation is used for both local tumors and larger tumors. Chemotherapy may be needed if the tumor has spread beyond the eye. The eye may need to be enucleated if the tumor does not respond to other treatments. In some cases, it may be the first treatment.8
If the cancer has not spread beyond the eye, almost all patients can be cured. A cure, however, may require aggressive treatment and even removal of the eye in order to be successful. If the cancer has spread beyond the eye, the likelihood of a cure is lower and depends on how the tumor has spread.8
Implications for Practice
This case clearly illustrates the importance of a good physical exam, regardless of the chief complaint. Emergency departments are often the safety net for many of our patients who may or may not have adequate access to primary care. In this case, metastatic disease was prevented by an astute physical examination.
1. Olitsky SE, et al. Disorders of eye movement and alignment. In: Kliegman RM, et al., eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia: Saunders; 2007: chap 622.
2. de Aguirre Neto JC, et al. Retinoblastoma in children older than 5 years of age. Pediatr Blood Cancer. 2007;48(3):292-295.
3. Genetics Home Reference. Retinoblastoma. http://ghr.nlm.nih.gov/condition/retinoblastoma.
4. U.S. National Library of Medicine. Retinoblastoma. http://www.nlm.nih.gov/medlineplus/ency/article/001030.htm.
5. Murphree L, Singh A. Heritable retinoblastoma: the RBI cancer predisposition syndrome. In: Singh AD, et al. Clinical Ophthalmic Oncology. Philadelphia, PA: Saunders Elsevier; 2007:428-433.
6. Gallie BL, et al. The genetics of retinoblastoma. Relevance to the patient. Pediatr Clin North Am. 1991;38(2):299-315.
7. Fletcher O, et al. Lifetime risks of common cancers among retinoblastoma survivors. J Natl Cancer Inst. 2004;96(5):357-363.
8. The Children's Hospital of Philadelphia. Retinoblastoma (eye) in children. http://www.chop.edu/service/oncology/cancers-explained/retinoblastoma-diagnosing-and-treating-retinoblastoma-in-children.html.
Tracy Pawlows is a family nurse practitioner who works in the Mendy's Pediatric Emergency Center of the John C. Lincoln Hospital in Phoenix. Julie Johns is associate pediatric medical director of the Mendy's Pediatric Emergency Center at John C. Lincoln Hospital in Phoenix.