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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
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Ocular manifestation in progeria: A case report
Rinkal Suwal1, Pranita Dhakal, Purushottam Joshi
1Mechi Eye Hospital, Jhapa, Nepal.
Summary
This case report details a five-year-old boy with Hutchinson Gilford Progeria Syndrome (HGPS), highlighting early ocular manifestations. The findings emphasize the significance of eye changes in this rare genetic aging disorder.
Area of Science:
- Genetics
- Pediatrics
- Ophthalmology
Background:
- Hutchinson Gilford Progeria Syndrome (HGPS) is a rare, fatal genetic disorder causing premature aging.
- Characterized by developmental delays, skin and cardiovascular abnormalities, and distinct facial features.
- Ocular manifestations like madarosis and lagophthalmos are common in HGPS.
Observation:
- A five-year-old boy presented with photophobia and a whitish eye appearance.
- Parents reported loss of eyelashes and eyebrows, consistent with HGPS.
- Developmental history revealed gradual hair loss, delayed growth, and skin wrinkling after the first year.
Findings:
- The case highlights the early ocular presentation of progeria in a young child.
- Ocular symptoms, including photophobia and madarosis, were prominent features.
- This report is the first from Nepal detailing progeria's ocular aspects.
Implications:
- Emphasizes the role of ocular senescence in Hutchinson Gilford Progeria Syndrome.
- Suggests early ophthalmological evaluation for children with suspected HGPS.
- Contributes to understanding the diverse clinical spectrum of progeria globally.
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