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Published on: February 11, 2014
Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome
Charulata Deshpande1, Michael Forrest, Isabelle Russell-Eggitt
1Department of Clinical Genetics, Great Ormond Street Hospital, London, UK. c.deshpande@ich.ucl.ac.uk
Insights
Marshall-Smith syndrome involves overgrowth and developmental issues. Early intervention for respiratory and feeding problems in this syndrome can significantly improve a child's survival and visual function.
Area of Science:
- Genetics and developmental disorders.
- Pediatric medicine and ophthalmology.
Background:
- Marshall-Smith syndrome is a rare genetic disorder.
- Characterized by overgrowth, advanced bone age, failure to thrive, respiratory issues, dysmorphic facial features, and intellectual disability.
- Respiratory problems are a primary cause of mortality.
Observation:
- This report details the clinical presentation of a child with Marshall-Smith syndrome.
- Emphasis is placed on the ocular manifestations and visual function.
- The child exhibited megalocornea, hypoplastic optic discs, and partial sight.
Findings:
- Marshall-Smith syndrome presents with significant ocular abnormalities.
- Ocular features like megalocornea and optic disc hypoplasia can lead to visual impairment.
- Aggressive management of associated respiratory and feeding difficulties is crucial.
Implications:
- Early and comprehensive management can improve outcomes for children with Marshall-Smith syndrome.
- Ophthalmological evaluation is essential for early detection and management of visual deficits.
- Further research into the ocular manifestations of Marshall-Smith syndrome is warranted.
Abstract:
Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation. Respiratory problems are a major cause of early morbidity and mortality. Ocular features have been mentioned in previous reports, but details are limited. This report describes the clinical features of a child with typical features of Marshall-Smith syndrome with emphasis on visual function. She had megalocornea, hypoplastic optic discs and was partially sighted. Aggressive management of the early respiratory and feeding problems improved survival in this child.
