Novel mutation in DMN1L gene in child with Landau Kleffner syndrome: a rare association

Ramakrishna Myathari; Anand Gupta; Sunita Bijarnia-Mahay

doi:10.18203/2349-3291.ijcp20222127

Authors

Ramakrishna Myathari Department of Paediatrics, Sarvodaya Hospital, Faridabad, Haryana, India
Anand Gupta Department of Paediatrics, Sarvodaya Hospital, Faridabad, Haryana, India
Sunita Bijarnia-Mahay Department of Paediatrics, Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital, New Delhi, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20222127

Keywords:

LKS, Acquired aphasia, DMN1L gene mutation, Encephalopathy, Lethal due to defective mitochondrial peroxisomal fission-1, Epileptic aphasia

Abstract

Landau Kleffner syndrome (LKS), occurs in healthy children who develop progressive aphasia along with seizures usually polymorphic with associated paroxysmal Electroencephalography (EEG) changes. Described cases in literature were neurologically normal with normal development prior to onset of LKS. This syndrome has male preponderance (2:1) age group affected being 3-7 years. Majority of cases (70-80%) shows additional symptoms viz. aggressive behaviour, decreased attention span, intellectual deficits etc. Index case is 13 years old female, who had seizure as initial symptoms, followed by expressive aphasia after a latent period of 2 months. She was not able to walk/post onset of aphasia. She was neurologically normal prior to onset of seizure.

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