Lissencephaly with subcortical band heterotopia in an East African child: A case report
Elisamia Ngowi1,2, Adil Datoo3, Pilly Ally3
1Department of Paediatrics and Child Health, Aga Khan Hospital Tanzania, Dar Es Salaam, Tanzania.
Insights
Lissencephaly and subcortical band heterotopia (LIS/SBH) are rare brain malformations causing developmental delay and seizures. Early diagnosis and interventions like physiotherapy significantly improve patient quality of life.
Area of Science:
- Neurology
- Developmental Neuroscience
- Medical Imaging
Background:
- Lissencephaly (LIS) is a severe neuronal migration disorder characterized by a smooth cerebral surface.
- It is often associated with developmental delay, intellectual disability, and epilepsy.
- Diagnosis relies on clinical presentation and neuroimaging, primarily Magnetic Resonance Imaging (MRI).
Observation:
- A case of a 3-year-old girl with global developmental delay and recurrent seizures is presented.
- Her initial seizure occurred at 14 months of age.
- MRI revealed characteristic features of lissencephaly and subcortical band heterotopia (SBH).
Findings:
- The patient's presentation aligns with the LIS/SBH spectrum, a group of genetic conditions affecting brain development.
- LIS/SBH is linked to specific gene mutations, although genetic analysis was not detailed in this abstract.
- Management strategies include antiseizure medications and physical therapy to manage symptoms and improve motor function.
Implications:
- Prompt diagnosis of the LIS/SBH spectrum is crucial for effective management and improved patient outcomes.
- Early intervention, including physiotherapy, can enhance motor skills and overall quality of life.
- This case underscores the importance of timely diagnosis and management, particularly in resource-limited settings.
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.
