Williams syndrome with a "twist"
Despoina Maritsi1, Lydia Kossiva, George Vartzelis
1Rheumatology Department, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1H 3JH, UK.
Case Reports in Medicine
|July 2, 2010
Summary
Williams syndrome, a rare genetic disorder, can present with neurological issues. This study details the first reported case of a toddler with Williams syndrome experiencing Benign Paroxysmal Torticollis.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Williams syndrome is a rare genetic disorder affecting multiple body systems, caused by a deletion on chromosome 7q11.23.
- Benign Paroxysmal Torticollis (BPT) is a dystonic disorder of unknown cause, typically affecting infants and young children.
Observation:
- This report describes a toddler diagnosed with Williams syndrome.
- The toddler presented with symptoms consistent with Benign Paroxysmal Torticollis.
Findings:
- This is the first documented instance of a child with Williams syndrome developing Benign Paroxysmal Torticollis.
- The co-occurrence suggests a potential, previously unrecognized association between these conditions.
Implications:
- Further research is warranted to explore the potential link between Williams syndrome and BPT.
- Understanding this association may improve diagnostic approaches and management strategies for affected children.
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