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Infantile spasms in two children with Williams syndrome
1Department of Pediatrics, The Ohio State University, Columbus, USA.
American Journal of Medical Genetics
|July 11, 1997
Insights
This study reports on two children diagnosed with Williams syndrome and infantile spasms. It highlights the co-occurrence of these conditions, noting infantile spasms in Williams syndrome is rarely documented.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Williams syndrome is a genetic disorder caused by a microdeletion on chromosome 7q11.23.
- Infantile spasms, a severe epilepsy syndrome, can occur in various genetic conditions.
- The association between Williams syndrome and infantile spasms is not well-established.
Abstract:
We describe two children with Williams syndrome and infantile spasms. The diagnosis of Williams syndrome was confirmed by documentation of a deletion of the elastin gene/Williams syndrome region at 7q11.23. The diagnosis of infantile spasms was confirmed through the presence of interictal hypsarrhythmia. This represents one of the first reports of infantile spasms in the Williams syndrome.