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Huge peripapillary staphyloma with craniofacial clefts: A case report
1Department of Ophthalmology, Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Insights
This case report details the first observed instance of a congenital peripapillary staphyloma co-occurring with craniofacial clefts in a young boy. This rare combination offers insights into diagnosing and treating these distinct congenital anomalies.
Area of Science:
- Ophthalmology
- Pediatric Surgery
- Medical Imaging
Background:
- Congenital peripapillary staphyloma and craniofacial clefts are rare, distinct developmental anomalies.
- The co-occurrence of these conditions is exceptionally uncommon.
Purpose of the Study:
- To report the first documented case of congenital unilateral huge peripapillary staphyloma associated with craniofacial clefts.
- To highlight the diagnostic and therapeutic implications of this rare co-occurrence.
Main Methods:
- A case report of a 1-year-old boy with craniofacial clefts.
- Magnetic resonance imaging (MRI) to assess craniofacial and orbital structures.
- Ophthalmic examination under anesthesia, including funduscopy, to evaluate the peripapillary region.
Main Results:
- The patient presented with eyelid defects, nasal abnormalities, and palatal/alveolar cracks.
- MRI revealed craniofacial abnormalities and a gourd-shaped right eyeball with a compressed optic nerve.
- Fundus examination showed a 15mm deep peripapillary excavation with optic disc anomalies.
Conclusions:
- The simultaneous occurrence of peripapillary staphyloma and craniofacial clefts is reported for the first time.
- This case provides valuable experience for the diagnosis and treatment of both conditions.
- The findings offer pathogenic insights for future research into these rare congenital defects.
Purpose:
We reported the occurrence of a congenital unilateral huge peripapillary staphyloma in association with craniofacial clefts for the first time.
Case Report:
A 1-year-old boy presented with a large defect on his left eyelid, a wide oblique columella nasi and an atypical wedge-shaped extension of the unilateral anterior hairline. Magnetic resonance imaging (MRI) examinations revealed there were cracks on his nasal septum, palate, and superior alveolar midline. Moreover, we surprisingly uncovered a gourd-shaped eyeball with the compressed optic nerve on the right side, while the right eye seemed normal from appearance. Under anaesthesia, fundus examination of the right eye showed a 15 mm-deep excavation surrounding the optic disc with defective choroid and dysplastic optic papilla. We reconstructed the left eyelid of the patient to protect his cornea and would make other solutions according to the results of follow-up.
Conclusion:
Peripapillary staphyloma and craniofacial clefts are two dissimilar rare congenital anomalies. In this patient, we firstly observed the co-existence of the two defects, which may provide the experience to the diagnosis and treatment of peripapillary staphyloma and craniofacial clefts. This case also gives us the pathogenic inspiration for further studies of peripapillary staphyloma and craniofacial clefts.
