Case report
Status Epilepticus as the Initial Presentation of Neurofibromatosis Type 1 in a Three-Year-Old Male: A Case Report
SD16-SD19
Correspondence
Jayakaviyah,
Senior Resident, Department of Paediatrics, Shree Balaji Medical College and Hospital, Bharath Institute of Higher Education and Research, Chennai-600044, Tamil Nadu, India.
E-mail: sweetham1997@gmail.com
Neurofibromatosis Type 1 (NF1) is a common autosomal dominant neurocutaneous disorder, occurring in approximately one in 2,500-3,000 live births. It results from mutations in the NF1 gene and is characterised by diverse cutaneous, ophthalmologic, and neurological manifestations. Although seizures occur in 4-10% of affected children, status epilepticus as the initial presentation in early childhood is uncommon. In present case, a three-year-old boy presented with continuous abnormal body movements and unresponsiveness lasting seven minutes. There was a history of developmental delay without prior seizures. Clinical examination revealed multiple café-au-lait macules, and ophthalmologic evaluation demonstrated bilateral Lisch nodules. Magnetic Resonance Imaging (MRI) of the brain showed multiple non-enhancing T2/FLAIR hyperintense lesions in the cerebellar hemispheres, thalami, and gangliocapsular regions, consistent with Focal Areas of Signal Intensity (FASI). Electroencephalography revealed bilateral epileptiform discharges with right-sided predominance. Based on established diagnostic criteria, NF1 presenting with focal epilepsy was diagnosed. The child responded well to antiepileptic therapy and remained seizure-free on follow-up. The distinct feature of this case is status epilepticus as the first neurological manifestation of NF1 in early childhood, supported by characteristic radiological findings. Subtle cutaneous signs played a pivotal role in establishing the diagnosis. This case highlights the importance of multidisciplinary evaluation and structured long-term follow-up to monitor neurological and systemic complications. Early recognition ensures timely intervention, appropriate counseling, and improved long-term outcomes.