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Long survival of a patient with Marshall-Smith syndrome without respiratory complications
D Sperli1, D Concolino, C Barbato
1Department of Paediatrics, Faculty of Medicine, Catanzaro, University of Reggio Calabria, Italy.
Insights
Marshall-Smith syndrome, a rare genetic disorder, presents with overgrowth and developmental delays. A 5-year-old patient survived past infancy without respiratory issues, suggesting prolonged life expectancy and highlighting clinical variability.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Medicine
- Clinical Dysmorphology
Background:
- Marshall-Smith syndrome is a rare genetic disorder characterized by overgrowth, skeletal abnormalities, and intellectual disability.
- The syndrome typically presents with significant early-life mortality, primarily due to respiratory complications.
- Previous literature indicates a poor prognosis, with most affected individuals not surviving past early childhood.
Observation:
- This report details a 5-year-old patient diagnosed with Marshall-Smith syndrome.
- The patient exhibits optic atrophy and agenesis of the corpus callosum, neurological manifestations.
- Notably, this individual has remained free of respiratory problems, a common cause of mortality in similar cases.
Findings:
- The patient's survival beyond the typical age range challenges the established prognosis for Marshall-Smith syndrome.
- The absence of respiratory distress in this case suggests a potentially milder respiratory phenotype.
- The co-occurrence of optic atrophy and agenesis of the corpus callosum adds to the phenotypic spectrum described.
Implications:
- This case underscores the significant clinical variability within Marshall-Smith syndrome.
- The findings suggest that improved respiratory support or a less severe respiratory phenotype may contribute to increased longevity.
- Further research into the genotype-phenotype correlations and long-term outcomes is warranted to better understand and manage this rare condition.
Abstract:
The Marshall-Smith syndrome is characterised by overgrowth, accelerated skeletal maturation, and dysmorphic facial features, often associated with mental retardation of variable degree. Most of the reported patients died in the first three years of life mainly because of respiratory problems. We describe a 5 year old patient with this rare syndrome, who has optic atrophy and agenesis of the corpus callosum, but has no respiratory problems so far. This observation underlines the clinical variability of the Marshall-Smith syndrome and indicates that life expectancy may be prolonged.