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Delleman (oculocerebrocutaneous) syndrome: few variations in a classical case
Katya A Tambe1, S V Ambekar, P N Bafna
1Department of Ophthalmology, BJ Medical College, India. ktambes@aol.com
Summary
Delleman syndrome, a rare congenital disorder affecting the eye, skin, and brain, is detailed in a case report. This report highlights a unique presentation of oculocerebrocutaneous syndrome with optic atrophy, previously undocumented.
Area of Science:
- Ophthalmology
- Neurology
- Genetics
Background:
- Delleman syndrome, also known as oculocerebrocutaneous syndrome, is a rare congenital disorder characterized by abnormalities of the eye, skin, and central nervous system.
- It is typically a sporadic condition with limited reported cases.
Observation:
- A 4-year-old male presented with features of oculocerebrocutaneous syndrome.
- Clinical manifestations included focal alopecia, periorbital skin appendages, an orbital dermoid cyst, an intracranial cyst, and optic atrophy.
Findings:
- This case represents a novel association of optic atrophy with oculocerebrocutaneous syndrome in the literature.
- The patient experienced a single seizure and maintained a normal intelligence quotient.
Implications:
- This case expands the known clinical spectrum of Delleman syndrome.
- Further research is warranted to understand the specific genetic and developmental pathways leading to optic atrophy in this syndrome.