Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2012  |  Volume : 15  |  Issue : 1  |  Page : 51-53

Seizure, spinal schwannoma, peripheral neuropathy and pulmonary stenosis - A rare combination in a patient of Neurofibromatosis 1


1 Department of Medicine, North Bengal Medical College, Sushrutanagar, Dist. Darjeeling, West Bengal, India
2 Department of Neurology, North Bengal Medical College, Sushrutanagar, Dist. Darjeeling, West Bengal, India

Correspondence Address:
Atanu Biswas
Department of Neurology, North Bengal Medical College, Sushrutanagar, Dist. Darjeeling - 734 012, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.93281

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Neurofibromatosis 1 (NF1) is the most common neurocutaneous syndrome. It is estimated to occur in approximately 1 out of every 3300 infants. The manifestations of this condition are diverse and can arise from almost any system in the body. The neurofibroma is the hallmark lesion of NF1 that develops from peripheral nerves. Here, we are reporting an 18-year-old girl with NF1. Clinical diagnosis was made according to the diagnostic criteria established by the National Institutes of Health Consensus Development Conference in 1987. She presented with quadriparesis due to dumbbell-shaped spinal schwannoma in the cervical region. She had history of recurrent seizures in the past, with poor scholastic performance. There were clinical and electrophysiological features of peripheral neuropathy and clinical and echocardiographical features of pulmonary stenosis. These are uncommon features of NF 1. The presence of all these features in a single patient makes it a unique case.


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