PedAM
Pediatric Disease Annotations & Medicines
| Disease | neurofibroma |
| Phenotype | C0014556|temporal lobe epilepsy |
| Sentences | 1 |
| PubMedID- 24649470 | This is the first case report on an epilepsy surgery in a patient with pharmacoresistant mesial temporal lobe epilepsy due to neurofibromatosis type 1. clinical diagnosis of neurofibromatosis type i requires 2 or more of the following: first, 6 or more café-au-lait spots (>5 mm in diameter for prepubertal children and >15 mm in postpubertal patients); second, a plexiform neurofibroma (or 2 or more neurofibromas of any type); third, crowe sign (multiple freckles in the axillary or inguinal region); fourth, a first degree relative with confirmed neurofibromatosis type 1; fifth, optic nerve glioma; sixth, 2 or more lisch nodules (hamartomas); seventh, sphenoid dysplasia, cortical thinning in long bones, or other distinctive osseous lesion.8,9 in our cases, she had the first criteria of café-au-lait spots and the third criteria of axillary freckles. |
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