An atypical clinical/radiological presentation of Retinoblastoma in a 4-year-old child: A case report & educational lessons from Syria

ABSTRACT:

Introduction

Retinoblastoma (Rb), the most common intraocular malignancy of children, typically presents with leukocoria or strabismus, and in later stages, the most common sign may be proptosis. Radiological techniques show calcification as an important finding for the diagnoses. This neoplasm can mimic any orbital or ocular disease in its atypical clinical/radiological presentations, which delay the diagnosis leading to high mortality rates.

Case presentation

Here we report a case of a 4-year-old male child who presented to our hospital with ocular pain, edema, and inflammatory signs in the right eye, with no calcification. Clinical examination and radiological techniques suggested a broad spectrum of differential diagnoses, including orbital Inflammatory pseudotumor. The patient received intravenous fluids and antibiotic therapy, while awaiting further investigations. He was kept under observation status for days and discharged home with a stable condition. After 6 months, He developed severe painful proptosis with a large extraocular mass. Orbital magnetic resonance imaging showed an orbital mass extending outside the orbit in a non-functional eye. Therefore, right eye exenteration was performed, and pathologic examination revealed the diagnosis of Rb. Adjuvant chemotherapy was applied postoperatively. After 3 months of progressive decline because of distant multiple metastases, the patient died.

Clinical discussion & conclusion

Rb must be considered in the differential diagnosis for any intraocular disease, due to the importance of early diagnosis and management. In this manuscript, we aimed to present a case of Rb with atypical symptoms including ocular pain, edema, inflammatory signs, then proptosis, with no finding of calcification in a Syrian child, highlighting a bunch of educational lessons for healthcare workers in developing countries. Highlights • At early stages of Retinoblastoma (Rb), most patients present with leukocoria and strabismus. At later stages, patients may exhibit proptosis, buphthalmos, or hypopyon.• Patients also might be asymptomatic, or rarely with atypical presentations in advanced cases, including any orbital or ocular disease.• Retinoblastoma (Rb) must be considered in the differential diagnosis for any intraocular disease, due to the importance of early diagnosis and management.• Retinoblastoma (Rb) may lead to a diagnostic dilemma ends with death especially in developing countries.• The management should be a team approach by the parents, pediatric oncologists, ophthalmologists, and radiologists.

SUBMITTER: Hraib M 

PROVIDER: S-EPMC9206916 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature