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[Williams-Beuren syndrome (Williams syndrome). Case report]
Györgyi Miklós1, György Fekete2, Irén Haltrich2
1Surrey and Sussex NHS Trust Redhill, Egyesült Királyság.
Insights
Williams syndrome, a rare genetic disorder, can be diagnosed later in life. This case highlights a 47-year-old woman diagnosed with Williams syndrome, emphasizing the importance of recognizing its diverse manifestations.
Area of Science:
- Genetics
- Rare Diseases
- Clinical Case Reports
Background:
- Williams syndrome is a rare genetic disorder affecting multiple systems.
- Diagnosis can be challenging, especially in mild childhood cases.
- Early diagnosis is crucial for managing associated health conditions.
Observation:
- A 47-year-old woman presented with hematemesis.
- Distinctive facial features, intellectual disability, and social behaviors suggested Williams syndrome.
- This represents the oldest diagnosed case in Hungary.
Findings:
- Genetic analysis confirmed Williams syndrome in the patient.
- The case underscores the potential for late diagnosis.
- Hematemesis was a presenting symptom in this adult patient.
Implications:
- Highlights the need for increased awareness of Williams syndrome in adults.
- Emphasizes the importance of comprehensive evaluation for rare genetic disorders.
- Suggests that hematemesis may be a presenting symptom in adult Williams syndrome patients.
Abstract:
Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.
