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Ring chromosome 20 syndrome with intractable epilepsy
Asude Alpman1, Gul Serdaroglu, Ozgur Cogulu
1Genetic Diseases Research and Application, Centre Ege University, Bornova, Izmir, Turkey. asude@med.ege.edu.tr
Developmental Medicine and Child Neurology
|May 17, 2005
Summary
Ring chromosome 20 (r[20]) syndrome presents with learning disabilities and epilepsy. This case highlights a significant psychological decline in a patient with intractable r[20] epilepsy, emphasizing the need for karyotype analysis in such cases.
Area of Science:
- Genetics
- Neurology
Background:
- Ring chromosome 20 (r[20]) syndrome is a rare genetic disorder.
- It is associated with learning disabilities, behavioral issues, and epilepsy.
- Diagnosis is increasing, with over 30 cases reported since 1976.
Observation:
- A 14-year-old male with r[20] syndrome experienced moderate to severe learning disability and epilepsy from 18 months of age.
- He exhibited intractable seizures, behavioral problems, and mild dysmorphic features.
- Despite various treatments including corpus callosotomy, seizures remained uncontrolled, and psychological issues worsened.
Findings:
- This case presents the first documented deterioration in psychological status in a patient with r[20] syndrome and intractable epilepsy.
- The patient's behavioral problems, including aggressiveness and self-injury, intensified after surgical intervention.
- Diagnosis of r[20] syndrome was confirmed after 13 years of clinical follow-up.
Implications:
- Karyotype analysis is crucial for diagnosing r[20] syndrome in patients with unexplained intractable epilepsy.
- Early diagnosis can potentially lead to better management strategies for both neurological and psychological symptoms.
- Further research is needed to understand the progression and management of psychological comorbidities in r[20] syndrome.