LAUSR

Background Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder, afflicting 1 in 2500–3000 individuals. These patients harbor cafe-au-lait macules, axillary and inguinal freckling, neurofibromas and optic pathway gliomas. Epilepsy, although not usual, is higher in these individuals than in the general population, occurring in 4–10%. Juvenile myoclonic epilepsy (JME) is a generalized, idiopathic epileptic syndrome characterized by myoclonic jerks, occurring mainly on awakening, often associated with generalized tonic-clonic seizures (GTCS). Material and methods A case report and literature review. Results A 19 yo woman was referred due to matinal myoclonic jerks and GTCS. The neurological examination was normal. The first EEG had generalized spikes, although without spike-and-wave pattern. The CT-scan was normal. She was diagnosed as having JME and was started on medication, remaining seizure-free from the age 24, with subsequent normal EEGs. At age 33, her daughter was referred due to learning disabilities and was diagnosed with NF1. Upon a more through physical examination, we also found discrete cafe-au-lait macules in our patients’ forearm, as well as axillar freckling. Genetic testing confirmed the diagnosis of NF1. Conclusions Generalized epilepsy (including JME) is described in 17% of the patients with NF1 and epilepsy. The literature is scarce on the association of JME and NF1, and a causal link cannot be established based on one case. However, this case highlights the relevance of a thorough physical examination in all patients with epilepsy, including a skin examination, as well as a proper imaging protocol in some generalized epilepsy cases.