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[Cystic eye and anophthalmos in a child with multiple congenital abnormalities]
Insights
This case report details a rare congenital cystic eye in a 2-year-old with anophthalmia and developmental delays. Multiple congenital anomalies precluded surgical intervention for the orbital tumor.
Area of Science:
- Ophthalmology
- Pediatric Medicine
- Medical Genetics
Background:
- Cystic eye is a rare congenital condition characterized by a persistent primary ocular cyst.
- Anophthalmia, the absence of one or both eyes, can occur with other congenital anomalies.
Observation:
- A 2-year-old patient presented with anophthalmia and a cystic eye resembling an orbital tumor (25 x 35 mm).
- The infant exhibited delayed psychomotor and speech development.
- Associated diagnoses included amblyacousia, thymomegaly, multiple cutaneous hemangiomas, syndactyly, cryptorchidism, and inguino-scrotal hernias.
Findings:
- The extensive constellation of developmental abnormalities presented a significant contraindication for general anesthesia.
- Surgical management, including cystic eye enucleation and prosthesis implantation, was deemed not feasible due to the patient's overall condition.
Implications:
- This case highlights the complexity of managing rare congenital ocular anomalies in the presence of syndromic presentations.
- Multidisciplinary assessment is crucial for determining appropriate treatment strategies in complex pediatric cases.
- The findings underscore the importance of considering the totality of a patient's health status when planning surgical interventions.
Abstract:
Cystic eye is a rare congenital disease representing a persistent primary ocular cyst cavity. A patient aged 2 is described with anophthalmia and cystic eye looking as an orbital tumor 25 x 35 mm in size. The infant suffered from delayed psychomotor and speech development. Ambilyacousia, thymomegaly, multiple hemangiomas of the skin, syndactyly, cryptorchidism, inguino-scrotal hernias were diagnosed. The totality of developmental abnormalities was a contraindication against anesthesia, therefore the proposed cystic eye enucleation with prosthesis implantation was not carried out.