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Neuronal Migration Disorders in Children; A Case Series highlighting importance of Neuroimaging in diagnosing Epilepsy.
- Source :
-
Nepal Journal of Neuroscience . Jun2024, Vol. 21 Issue 2, p65-69. 5p. - Publication Year :
- 2024
-
Abstract
- Introduction: Neuronal migration disorders comprise a heterogeneous group of neurological conditions caused by abnormal neuronal positioning during brain development. We aimed to study the clinical profile, neuroimaging features, genetics, and treatment of neuronal migration disorders. Materials & Methods: This was a retrospective case series of 15 pediatric patients diagnosed with neuronal migration disorders at a tertiary care hospital over a 5 year period. Detailed clinical evaluation, neuroimaging, EEG, and genetic analysis were performed. Results: Global developmental delay and epilepsy were the most common presenting features. Neuroimaging revealed spectrum of cortical dysgenesis including pachygyria, polymicrogyria, lissencephaly, heterotopia, and schizencephaly, predominantly involving fronto-parietal regions. MRI coupled with clinical findings enabled definitive diagnosis. Genetic analysis identified mutations in PAFAH1B1, ADGRG1, DHDDS, TMTC3, and other genes. Anti-seizure medications like valproate, levetiracetam, and clobazam were the mainstay of therapy. Non-pharmacological interventions including physiotherapy, occupational therapy, and speech therapy were employed. Conclusion: This study demonstrates the diverse clinical, genetic, and radiological spectrum of neuronal migration disorders. Comprehensive evaluation along with neuroimaging and genetic analysis enables accurate diagnosis and guides management. A multimodal approach is required focusing on seizures, neurodevelopmental disabilities, and improving quality of life. [ABSTRACT FROM AUTHOR]
- Subjects :
- *GENETICS
*NEUROLOGICAL disorders
*QUALITY of life
*ANTICONVULSANTS
*CHILD patients
Subjects
Details
- Language :
- English
- ISSN :
- 18131948
- Volume :
- 21
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- Nepal Journal of Neuroscience
- Publication Type :
- Academic Journal
- Accession number :
- 180245166
- Full Text :
- https://doi.org/10.3126/njn.v21i2.62028