Congenital Orbital Rhabdomyosarcoma

Area of Science:

• Pediatric Oncology
• Ophthalmology
• Neurosurgery

Background:

• Rhabdomyosarcoma (RMS) is the most common orbital malignancy in children.
• Congenital orbital RMS, particularly with intracranial extension, is exceptionally rare at birth.
• Orbital exophthalmia in newborns can indicate aggressive underlying pathology.

Purpose of the Study:

• To report a rare case of large congenital orbital rhabdomyosarcoma with intracranial extension in a neonate.
• To discuss the clinical presentation, diagnostic challenges, and treatment outcomes.
• To emphasize the poor prognosis and suggest management strategies for this rare condition.

Main Methods:

• Case presentation of a newborn with severe exophthalmia.
• Diagnostic imaging (MRI/CT) to assess orbital and intracranial extension.
• Neoadjuvant chemotherapy (VAC regimen) followed by surgical resection (orbital exenteration and intracranial tumor removal).
• Histopathological and immunohistochemical analysis to confirm Rhabdomyosarcoma.

Main Results:

• A neonate presented with a large orbital mass causing exophthalmia and intracranial extension.
• The tumor was histologically confirmed as Rhabdomyosarcoma, categorized as intermediate-risk.
• Despite neoadjuvant chemotherapy and aggressive surgery, the patient experienced intracranial recurrence and succumbed to the disease.
• The patient's outcome underscores the aggressive nature and poor prognosis of congenital orbital RMS.

Conclusions:

• Congenital orbital rhabdomyosarcoma, especially with intracranial involvement, carries a dismal prognosis.
• Delayed reconstructive surgery is advised due to high recurrence rates and low survival.
• A coordinated multidisciplinary team approach is crucial for managing these complex pediatric cases and potentially improving survival rates.