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Published on: September 20, 2024
Congenital peri-sylvian syndrome presenting with intractable seizures
1Department of Pediatric Neurology, Leicester Royal Infirmary, University Hospital of Leicester NHS Trust, Leicester, United Kingdom. Dr_nahin@yahoo.com
Insights
Congenital sylvian fissure syndrome is a rare neurological disorder causing severe seizures and feeding difficulties from birth. Early Magnetic Resonance Imaging (MRI) brain scans are crucial for diagnosis and parental support.
Area of Science:
- Neurology
- Pediatric Neurology
- Neuroimaging
Background:
- Congenital sylvian fissure syndrome is a rare developmental brain malformation.
- It is characterized by intractable seizures, hypotonia, and feeding difficulties presenting from birth.
Observation:
- A case study detailing a neonate diagnosed with congenital sylvian fissure syndrome.
- The infant presented with severe, treatment-resistant epilepsy and significant feeding challenges.
Findings:
- Magnetic Resonance Imaging (MRI) of the brain was instrumental in achieving an early and accurate diagnosis.
- Neuroimaging findings correlated with the clinical presentation of the syndrome.
Implications:
- Early diagnosis through MRI facilitates timely genetic and developmental counseling for affected families.
- Understanding the neuroanatomical basis aids in managing symptoms and improving long-term outcomes.
- This case highlights the importance of advanced imaging in diagnosing rare pediatric neurological conditions.
Abstract:
We report a case of Congenital peri-sylvian syndrome with intractable seizures, hypotonia and feeding problems since birth. MRI brain helped in making an early diagnosis and counselling parents.
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