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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

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Published on: September 20, 2018

Oculocerebrocutaneous syndrome.

A Osman Saatci¹, Gul Arikan, Pinar Saatci

¹Department of Ophthalmology, Dokuz Eylul University, Izmir, Turkey.

Journal of Pediatric Ophthalmology and Strabismus

|June 6, 2008

Summary

This report details the first case of oculocerebrocutaneous syndrome (Delleman-Oorthuys syndrome) in Turkey. The patient presented with characteristic neurological and physical anomalies, highlighting the syndrome

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Area of Science:

Medical Genetics
Neurology
Dermatology

Background:

Oculocerebrocutaneous syndrome (Delleman-Oorthuys syndrome) is a rare congenital disorder.
It is characterized by a distinctive triad of ocular, cerebral, and cutaneous anomalies.
Previous cases have been reported globally, but not previously in Turkey.

Observation:

A 19-month-old boy presented with features consistent with Delleman-Oorthuys syndrome.
Key clinical manifestations included a unilateral orbital cyst, skin tags, and skin hypoplasia.
Cerebral imaging revealed a hypoplastic left cerebellar hemisphere, Dandy-Walker variant anomaly, corpus callosum agenesis, and a left cerebral hemispheric diffuse migration anomaly.

Findings:

This case represents the first documented instance of Delleman-Oorthuys syndrome in the Turkish population.
The patient exhibited the classic spectrum of ocular, cerebral, and cutaneous findings associated with the syndrome.
The combination of anomalies provides further insight into the phenotypic variability of this rare condition.

Implications:

This report expands the geographic distribution of reported Delleman-Oorthuys syndrome cases.
It underscores the importance of recognizing this syndrome in pediatric patients with complex congenital anomalies.
Further research may elucidate the genetic and etiological factors contributing to Delleman-Oorthuys syndrome, particularly in diverse populations.