Intractable epilepsy, growth failure, hypothyroidism, and cataract: rare clinical manifestations in a patient with ring chromosome 20 syndrome
- Author:
Hsiu-Fen Lee
;
Ching-Shiang Chi
- Publication Type:Journal Article
- Keywords:
Cataract;
hypothyroidism;
intractable epilepsy;
ring chromosome 20
- From:Neurology Asia
2020;25(1):63-66
- CountryMalaysia
- Language:English
-
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.
- Full text:7.2020my0010.pdf
