Background:Landau-Kleffner syndrome(LKS)is an acquired aphasia and electroencephalogram(EEG)abnormalities mainly in temporoparietal areas.SLC26A4 mutations can cause hearing loss associated with enlarged vestibular aq...Background:Landau-Kleffner syndrome(LKS)is an acquired aphasia and electroencephalogram(EEG)abnormalities mainly in temporoparietal areas.SLC26A4 mutations can cause hearing loss associated with enlarged vestibular aqueduct(EVA).Case presentations:We report a case of LKS in a 5-year-old boy with non-syndromic EVA due to homozygous mutations of c.919-2A>G(IVS7-2A>G)in SLC26A4.He had normal language development before 2 years old.At the age of 2.5 years,he was admitted to the hospital due to remarkable language delay,and diagnosed with hearing loss with EVA.The seizures started at 4.4 years of age and EEG recording showed electrical status epilepticus during sleep(ESES)with a posterior-temporal predominance.He received cochlear implantation in the right ear at 4.7 years of age,which improved his hearing and language skills.The nocturnal focal motor seizures recurred at 4.9 years of age.Then a remarkable inability to respond to calls and reduction in spontaneous speech were noticed.He was treated with methylprednisolone at 5 years old,which controlled the seizures,suppressed ESES,and remarkably improved the language ability.The absence of seizures maintained until the last follow-up at 5.3 years of age,with further improvements in EEG recording and language ability.Conclusions:The co-existence of LKS and hearing loss caused by SLC26A4 mutations increases the difficulty of LKS diagnosis,especially in the presence of hearing loss and impaired language skills.EEG discharges predominantly in temporoparietal areas,the occurrence of ESES,and language improvement after antiepileptic medications are potential indicators for LKS diagnosis.展开更多
基金This work was supported by grants from the National Natural Science Foundation of China(81771393 and 82171436)Beijing Natural Science Foundation(7202210)Capital Funds for Health Improvement and Research(2020-2-4077).
文摘Background:Landau-Kleffner syndrome(LKS)is an acquired aphasia and electroencephalogram(EEG)abnormalities mainly in temporoparietal areas.SLC26A4 mutations can cause hearing loss associated with enlarged vestibular aqueduct(EVA).Case presentations:We report a case of LKS in a 5-year-old boy with non-syndromic EVA due to homozygous mutations of c.919-2A>G(IVS7-2A>G)in SLC26A4.He had normal language development before 2 years old.At the age of 2.5 years,he was admitted to the hospital due to remarkable language delay,and diagnosed with hearing loss with EVA.The seizures started at 4.4 years of age and EEG recording showed electrical status epilepticus during sleep(ESES)with a posterior-temporal predominance.He received cochlear implantation in the right ear at 4.7 years of age,which improved his hearing and language skills.The nocturnal focal motor seizures recurred at 4.9 years of age.Then a remarkable inability to respond to calls and reduction in spontaneous speech were noticed.He was treated with methylprednisolone at 5 years old,which controlled the seizures,suppressed ESES,and remarkably improved the language ability.The absence of seizures maintained until the last follow-up at 5.3 years of age,with further improvements in EEG recording and language ability.Conclusions:The co-existence of LKS and hearing loss caused by SLC26A4 mutations increases the difficulty of LKS diagnosis,especially in the presence of hearing loss and impaired language skills.EEG discharges predominantly in temporoparietal areas,the occurrence of ESES,and language improvement after antiepileptic medications are potential indicators for LKS diagnosis.
