Intractable epilepsy, growth failure, hypothyroidism, and cataract: rare clinical manifestations in a patient with ring chromosome 20 syndrome

@#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.

Clues to differentiate Dravet syndrome from febrile seizures plus at the first visit

Objective: To investigate the clinical clues to differentiate between Dravet syndrome (DS) and febrileseizures plus (FS+). Methods: From September 2001 to March 2014, 44 consecutive patients whowere diagnosed with DS or FS+, were recruited. We retrospectively analyzed the characteristics of thefirst seizure and findings of patients exhibiting seizures during hot water immersion at the first visit.Comparisons between the two groups were analyzed. Results: Thirty-two DS and 12 FS+ patientswere enrolled. The most prevalent body temperature classification in the DS group was afebrile(43.8% vs. 25%, p=0.001), followed by 37-37.9oC (31.3% vs. 8.3%, p=0.02), and that in the FS+group was at 39oC or above (33.3% vs. 9.4%, p=0.001). The most prevalent seizure type in the DSgroup was focal motor seizures (43.8% vs. 25%, p=0.001), followed by alternating hemiconvulsiveseizures (12.5% vs. 0%, p=0.005), and that in the FS+ group was generalized clonic and/or tonic-clonicseizures (83.3% vs. 37.5%, p=0.002). Compared with the FS+ group, there was a greater prevalenceof vaccination-related seizure as the first presenting feature among the DS patients (46.9% vs. 8.3%,p<0.001). During hot water immersion, myoclonic seizure was seen significantly in the DS group(46.4% vs. 25.5%, p=0.013).Conclusions: Afebrile and mild body temperature variation below 38oC, focal motor seizure oralternating hemiconvulsive seizure types, and vaccination-related first seizure were found to be cluesfor highly suspected DS.