Loading...
|
Please use this identifier to cite or link to this item:
https://ir.csmu.edu.tw:8080/ir/handle/310902500/24581
|
| Title: | Intractable epilepsy, growth failure, hypothyroidism, and cataract: rare clinical manifestations in a patient with ring chromosome 20 syndrome |
| Authors: | Lee, HF;Chi, CS |
| Keywords: | Cataract;hypothyroidism;intractable epilepsy;ring chromosome 20 |
| Date: | 2020 |
| Issue Date: | 2022-08-09T08:04:41Z (UTC)
|
| Publisher: | ASEAN NEUROLOGICAL ASSOC |
| ISSN: | 1823-6138 |
| Abstract: | Ring chromosome 20 [r(20)] syndrome is typically characterized by intractable epilepsy, variable degrees of behavior problems and cognitive deficits, and an absence of or minimal dysmorphic features. Here we report a case diagnosed with r(20) syndrome exhibiting rare clinical manifestations of intractable epilepsy, growth failure, hypothyroidism, and cataract. This 17-year-old female patient who showed growth failure and no dysmorphic features had the first seizure at the age of 8 years. The seizure pattern was described as periods of non-convulsive status epilepticus with prolonged confusional state, motionless stare, mutism, and subtle motor seizures, lasting for minutes to hours. The interictal EEG showed bilateral synchronous, rhythmic high voltage delta waves intermixed with occasional spikes over the bilateral frontal areas. The seizures were refractory to medical treatments. Hypothyroidism and cataract were subsequently diagnosed at the age of 16 years and 17 years, respectively. Chromosome study showed a female genome with r(20) mosaicism. In conclusion, r(20) syndrome might cause multisystemic involvement, and therefore, comprehensive surveys of the central nervous system, ophthalmologic system, and endocrine system, among others, are crucial. |
| URI: | https://www.webofscience.com/wos/woscc/full-record/WOS:000522148300010
https://ir.csmu.edu.tw:8080/handle/310902500/24581 |
| Relation: | NEUROLOGY ASIA ,2020 ,v25 ,issue 1 ,p63-66 |
| Appears in Collections: | [中山醫學大學研究成果] 期刊論文
|
Files in This Item:
There are no files associated with this item.
|
All items in CSMUIR are protected by copyright, with all rights reserved.
|
