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Lissencephaly with subcortical band heterotopia in an East African child: A case report. | LitMetric

AI Article Synopsis

  • Lissencephaly is a rare brain condition that leads to a smooth cerebral surface, often resulting in developmental delays, mental challenges, and seizures.
  • A case study of a 3-year-old girl showed symptoms like developmental delay and seizures, with MRI confirming lissencephaly and associated conditions.
  • Early diagnosis and treatment with antiseizure medications and physiotherapy can improve outcomes and quality of life, especially in areas with limited resources.

Article Abstract

Lissencephaly is a rare neuronal migration defect that results in a smooth cerebral surface, mental retardation, and seizures. It is diagnosed primarily by correlating clinical manifestations with MRI findings. We present a case of a 3-year-old girl with developmental delay and seizures. Her first seizure was at 14 months and MRI showed features of lissencephaly and subcortical band heterotopia. Lissencephaly is associated with gene mutations. Treatment focuses on antiseizure meds and physiotherapy to reduce seizures and improve motor skills. This case report highlights the importance of promptly diagnosing the LIS/SBH spectrum to enhance patient outcomes. Timely identification and treatment, such as physiotherapy, can significantly improve the quality of life, especially in resource-limited settings.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11564014PMC
http://dx.doi.org/10.1016/j.radcr.2024.10.067DOI Listing

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