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Delleman Oorthuys syndrome
Syed Wajahat A Rizvi1, Mohammed Azfar Siddiqui2, Adeeb A Khan1
1Department of Ophthalmology, Institute of Ophthalmology, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India.
Middle East African Journal of Ophthalmology
|January 28, 2015
Summary
Oculocerebrocutaneous syndrome, a rare congenital disorder, presents with eye, brain, and skin abnormalities. Early neuroimaging is crucial for managing this complex condition in infants.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Neurology
- Ophthalmology
Background:
- Oculocerebrocutaneous (Delleman) syndrome is a rare congenital disorder.
- It is characterized by microphthalmia/anophthalmia, orbital cysts, focal skin defects, intracranial cysts, and skin appendages.
Observation:
- A case report details a 1-year-old male with periocular skin tags, lid colobomas, and dermal hypoplasia.
- The patient exhibited delayed developmental milestones and a history of tonic-clonic seizures.
Findings:
- Neuroimaging revealed a large arachnoid cyst, aplastic cerebellar vermis, and polymicrogyria.
- Abdominal ultrasonography identified a complex splenic cyst.
Implications:
- Orbital cyst management depends on size, ranging from observation to surgical excision.
- Emphasizes the importance of neuroimaging for early diagnosis and management of congenital orbital cysts and skin appendages.
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