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Progressive myoclonic epilepsy (PME) is a gradually progressive neurological disorder characterized by the development of progressive myoclonus, ataxia, and cognitive impairment with other neurodeficits. There are a wide variety of PMEs, such as Lafora body disease (LBD), neuronal ceroid lipofuscinoses, Unverricht-Lundborg disease, myoclonic epilepsy with ragged-red fiber syndrome, sialidoses, dentato-rubro-pallidal atrophy, storage diseases, and some of the inborn errors of metabolism, among others. Although the modern genetic tests are helpful in discerning underlying etiology, the clinical differentiation is often possible with historical background and clinical examination. We report a case of PME, where we suspected LBD on basis of clinical history and examination, which was confirmed with skin biopsy and next-generation sequencing.

Neurofibromatosis Type II (NF2) is a neurocutaneous syndrome with autosomal dominant inheritance caused by mutation in NF2 gene that codes for protein merlin. It is associated with various tumours such as vestibular schwannoma, meningiomas, ependymomas, etc. in central and peripheral nervous system. The Manchester criteria is used for its diagnosis. We report a case of a 9 year old girl with café au lait spots and plexiform neurofibromas who presented with gradual onset UMN type of progressive quadriparesis over 20 days. Magnetic resonance imaging brain and spine revealed bilateral vestibular schwannomas and multiple spinal neurofibromas which were confirmed on histopathologic examination, thereby confirming diagnosis of NF Type 2.