Differential Diagnosis for a 4-year-old Girl with Squinting and Proptosis
- Single most likely diagnosis:
- Neurofibromatosis type 1 (NF1) with optic pathway glioma: The presence of café-au-lait macules, axillary freckling, and optic disc pallor, along with proptosis and decreased visual acuity in one eye, strongly suggests NF1. The optic pathway glioma, a common feature in NF1, could explain the visual symptoms and proptosis.
- Other Likely diagnoses:
- Orbital cellulitis or abscess: Although less likely given the chronic nature of symptoms and the presence of systemic signs like café-au-lait macules, an orbital infection could cause proptosis and decreased visual acuity.
- Thyroid ophthalmopathy: This condition can cause proptosis and esotropia, but it's less common in children and typically associated with other signs of thyroid disease.
- Orbital lymphangioma: A benign tumor that could cause proptosis, but it wouldn't typically cause optic disc pallor or be associated with systemic findings like café-au-lait macules.
- Do Not Miss diagnoses:
- Retinoblastoma: Although the presentation doesn't strongly suggest retinoblastoma, any child with decreased visual acuity and proptosis needs to be evaluated for this potentially deadly tumor.
- Rhabdomyosarcoma: The most common orbital malignancy in children, which could present with proptosis and decreased vision. Early diagnosis is crucial for treatment and survival.
- Rare diagnoses:
- Orbital metastasis: Extremely rare in children, but could present with proptosis and visual disturbances. The primary tumor would likely be neuroblastoma.
- Congenital fibrosarcoma: A rare orbital tumor that could cause proptosis, but it's typically diagnosed in infancy.
- PHACE syndrome: A rare condition characterized by posterior fossa malformations, hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities, which could potentially explain some of the symptoms, but it's less likely given the specific findings in this case.