Authors :
Presenting Author: Yashodhara Velayudam, – University of Alabama at Birmingham
Ahsan Moosa Naduvil Valappil, MD, FAES – Cleveland Clinic
Reet Sidhu, MD – Inspire Pediatric Neurology
Vidya Krishnamurthy, MD – Pediatrics and Genetics
Kohilavani Velayudam, MD – Pediatric Epilepsy And CHild Neurology
Rationale:
Landau-Kleffner Syndrome (LKS), also known as acquired epileptic aphasia, is a rare childhood neurological disorder characterized by a sudden or gradual regression of language skills secondary to spike-wave activation in sleep affecting the language networks. EEG typically shows temporal or centro-temporal spike wave activation in the language dominant hemisphere. Such presentation with epileptiform discharges in the vertex region has not been described.
Methods:
We report the case of a 7.5-year-old child presenting with clinical features consistent with Landau-Kleffner Syndrome (LKS), demonstrating marked resolution following steroid therapy. The clinical course, EEG findings, and treatment are presented.
Results:
A 7.5-year-old boy was diagnosed with fine motor delay and speech delay at the age of 3, which improved over time with minimal residual articulation delay. At approximately 6.5 years of age, he experienced a subacute onset of speech and language regression, which progressed from a decrease in verbal output to complete mutism over four to six weeks. Neurodevelopmental evaluation raised concern for Landau-Kleffner syndrome, with a relatively preserved receptive language. There were no major concerns for autism.
The initial EEG showed sporadic focal spikes in the midline central region. Over the following five weeks, this evolved into an abundant spike-wave activation (spike wave index ~ 55-70%) in sleep limited to the vertex region (maximum over Cz electrode). Brain MRI was normal. Whole exome sequencing showed a pathogenic variant of DUOX2 gene related to hypothyroidism.
Based on the classic clinical presentation of Landau-Kleffner syndrome, intravenous steroids, diazepam, and valproic acid were initiated. Approximately three weeks after starting IV steroid therapy, clinical improvement in language skills was observed. With a gradual wean of prednisone over five months, both language production and comprehension continued to improve. Follow-up EEG demonstrated significant improvement with remission of epileptiform activity. Twelve months after the initial presentation, language skills had returned to baseline.
Conclusions:
This case report highlights the importance of early recognition and intervention in Landau-Kleffner syndrome, even in the presence of atypical EEG findings. Midline focal EEG abnormalities may suggest involvement of supplementary language areas in the pre-SMA region, contributing to the clinical presentation. Prompt intervention can prevent the progression of language regression and facilitate rapid remission, leading to the restoration of baseline language and cognitive function.
Funding: N/A