Case Report

A Case Report of Retinoblastoma

By Sidnei Epelman
Albert Einstein Hospital, Sao Paulo,
and INCTR Retinoblastoma Strategy Group

The following case history of a four-year-old child from a slum area in the capital city of a state in north western Brazil, is not unusual in countries with limited resources, and illustrates the extent of the problem of late diagnosis/presentation of retinoblastoma in such countries.

The child above has advanced retinoblastoma. The tumor is protruding from the left orbit, after removal of the eye approximately two months earlier.

The patient was noted by the parents (who are illiterate) to have strabismus (squint) of the left eye at the age of six months. They were told not to worry about this, and nothing was done. Approximately six months later, they noticed redness of the eye and what appeared to be bleeding within the eye. The parents took the child to a local clinic and eyedrops were prescribed, which he continued to take for approximately two years. By this time, the eye had begun to protrude, and eventually, after further medical consultations, enucleation (removal of the eye) was performed at a local hospital in January 2001. Approximately eight days later, it was noted that tumor was growing in the orbit (eye socket) and after two months of additional delay, the patient was sent to Sao Paulo where he was seen by Dr Clelia Erwenne, an ophthalmologist at the Albert Einstein Hospital in Sao Paulo (see figure at right). Repeat biopsy showed retinoblastoma, and investigations revealed that the tumor had spread to the brain. Malignant cells were found in the spinal fluid.

The delay in diagnosis for this child was in excess of three years. Had the diagnosis of retinoblastoma been entertained at the time when the only evidence of abnormality was squint, or even when the redness and bleeding in the eye were first noted, it is highly probable that the child would have been cured, and, depending upon the extent of tumor at that time, it may even have been possible to preserve the eye with simple chemotherapy and local treatment. With the extent of disease currently present (stage IV, with nervous system involvement), there is very little hope of survival, even with very intensive chemotherapy.

Because many children's lives, and probably many eyes, could be saved by earlier diagnosis and treatment, the INCTR retinoblastoma strategy group is planning to launch a program to identify more precisely the reasons for late presentation of retinoblastoma to centers able to manage this disease. Educational programs designed to lead to earlier diagnosis and therapy will then be instituted, their primary target audiences (the public, primary care physicians or other health advisors, pediatricians, or ophthalmologists) and content being determined by the findings of the initial survey.