Retinoblastoma in a Young Nigerian Girl: A Case Report From ECWA Eye Hospital, Kano

TL;DR

A 9-year-old Nigerian girl with advanced retinoblastoma showed aggressive disease progression despite treatment, highlighting the need for early diagnosis in resource-limited areas.

Contribution

This case report emphasizes the importance of early diagnosis and treatment in retinoblastoma, particularly in older children with atypical presentations.

Findings

The patient presented with a rare atypical form of retinoblastoma in an older child.

Despite initial treatment, the patient's condition rapidly worsened, likely due to metastatic spread.

The case underscores the challenges of delayed diagnosis in resource-limited settings.

Abstract

Objective: This report details the case of a 9-year-old Nigerian girl presenting with proptosis and a fungating ocular mass, which was histologically confirmed as retinoblastoma following exenteration.

Introduction: Retinoblastoma is the most common pediatric intraocular malignancy, predominantly affecting infants and children under the age of 5, with leukocoria being the most frequent presenting symptom. The occurrence of retinoblastoma in older children is rare and often associated with atypical presentations.

Case Summary: A 9-year-old Nigerian girl presented with a 1-year history of progressive left eye symptoms, including redness, pain, decreased vision, and proptosis. Examination revealed a large, fungating ocular mass with no light perception. Imaging studies (ultrasound B-scan and CT scan) confirmed extensive vitreous infiltration and optic nerve involvement. Histopathological analysis postmodified exenteration confirmed retinoblastoma. The patient clinically tolerated a modified exenteration and the first two of six planned cycles of systemic chemotherapy (vincristine, etoposide, and carboplatin). Unfortunately, she died during the second month of follow-up. The recurrence was characterized by progressive worsening of systemic symptoms and preauricular lymphadenopathy, likely indicating metastatic spread.

Conclusion: This case highlights the aggressive progression of advanced retinoblastoma and the consequences of delayed presentation in resource-limited settings. Although the patient demonstrated an initial positive response, clinically tolerating modified exenteration and two cycles of systemic chemotherapy, she rapidly succumbed to the disease. This underscores the critical need for early diagnosis, prompt referral, and improved access to specialized care to enhance outcomes in similar contexts.

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