PMID- 33304697
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201212
IS  - 2168-8184 (Print)
IS  - 2168-8184 (Electronic)
IS  - 2168-8184 (Linking)
VI  - 12
IP  - 11
DP  - 2020 Nov 6
TI  - Turner Syndrome Associated With Refractory Seizures and Intellectual Disability: 
      A Case Study.
PG  - e11364
LID - 10.7759/cureus.11364 [doi]
LID - e11364
AB  - Turner syndrome (TS) is the most frequent sex abnormality in women. The physical 
      features include short stature, webbing of the neck, and gonadal dysgenesis. 
      Typically, patients with Turner syndrome exhibit no intellectual disability, and 
      a few cases of TS have been associated with epilepsy. Herein, we present a case 
      of TS with intractable epilepsy. The patient presented with global developmental 
      delay at the age of two and karyotyping revealed mosaicism [45, X/46, X del (X) 
      (q21.1)]. At the age of seven, she had generalized tonic epilepsy as well as 
      several focal-onset seizures. She developed daily seizures, which were refractory 
      to several antiepileptic drugs. Interictal electroencephalography (EEG) revealed 
      multifocal spikes, and ictal EEG revealed shifting foci. She visited our hospital 
      at the age of 13. Her peripheral white blood cells G-band and fluorescence in 
      situ hybridization (FISH) method chromosome with cheek swab examinations revealed 
      45, X. Her peripheral white blood cell mosaic pattern may have disappeared over 
      time or become indetectable. We treated her with clobazam, and then lamotrigine 
      and valproic acid combination therapy, which resulted in a reduction in the 
      frequency of seizures by approximately 50%. Epilepsy and intellectual disability 
      in this case may be due to the mosaic deletion at Xq21.1. Further analysis of 
      similar cases may provide valuable information for effective therapeutic 
      strategies.
CI  - Copyright (c) 2020, Akasaka et al.
FAU - Akasaka, Manami
AU  - Akasaka M
AD  - Pediatrics, Iwate Medical University, Morioka, JPN.
FAU - Kamei, Atsushi
AU  - Kamei A
AD  - Pediatrics, Iwate Medical University, Morioka, JPN.
FAU - Ito, Jun
AU  - Ito J
AD  - Pediatrics, Iwate Medical University, Morioka, JPN.
FAU - Oyama, Kotaro
AU  - Oyama K
AD  - Pediatrics, Iwate Medical University, Morioka, JPN.
LA  - eng
PT  - Case Reports
DEP - 20201106
PL  - United States
TA  - Cureus
JT  - Cureus
JID - 101596737
PMC - PMC7721081
OTO - NOTNLM
OT  - fluorescence in situ hybridization
OT  - g-band analysis
OT  - intellectual disability
OT  - lamotrigine and valproic acid combination therapy
OT  - mosaicism
OT  - neurodevelopmental disorder
OT  - refractory seizure
OT  - spikes shifting foci
OT  - turner syndrome
OT  - unclassified epilepsy
COIS- The authors have declared that no competing interests exist.
EDAT- 2020/12/12 06:00
MHDA- 2020/12/12 06:01
PMCR- 2020/11/06
CRDT- 2020/12/11 06:03
PHST- 2020/12/11 06:03 [entrez]
PHST- 2020/12/12 06:00 [pubmed]
PHST- 2020/12/12 06:01 [medline]
PHST- 2020/11/06 00:00 [pmc-release]
AID - 10.7759/cureus.11364 [doi]
PST - epublish
SO  - Cureus. 2020 Nov 6;12(11):e11364. doi: 10.7759/cureus.11364.