Presentation of an unusual patient with Lafora disease

Abstract

Lafora disease is a rare, fatal, autosomal recessive progressive myoclonic epilepsy. The condition is characterised by seizures, myoclonus and dementia. In this case report, a patient who presented with generalised tonic‐clonic seizures at the age of 30 is discussed. Until the age of 48, the patient did not have myoclonic jerks or ataxia clinically, but had well controlled seizures. He developed dementia and late extrapyramidal signs. Axillary skin biopsy revealed typical Lafora inclusion bodies. Genetic analysis showed a mutation in the EMP2B gene. To our knowledge, this is the first description of a patient suffering from a Lafora disease without disabling myoclonus and ataxia but rather rare seizures, extrapyramidal signs, and dementia.

Lafora disease: a case report

“…Over time, those affected with Lafora disease have brain changes that cause confusion, speech difficulties, depression, decline in intellectual function, impaired judgement, and impaired memory. If areas of the cerebellum are affected by seizures, it is common to see problems with speech, coordination, and balance in patients with Lafora disease [ 1 ]. Currently, there is no efficacious treatment that controls the seizures and improves the cognitive decline in this disease [ 11 ].…”

“…Lafora disease is a rare, genetic disorder of autosomal recessive inheritance characterized by presence of inclusion bodies (Lafora bodies) in the cells of heart, liver, muscle, and skin. It presents as a neurodegenerative disorder causing impairment of cerebral cortical neurons [ 1 ]. The disease usually manifests in previously healthy adolescents, and death commonly occurs within 10 years of symptom onset [ 2 ].…”

Early Parkinsonism in a Senegalese girl with Lafora disease

“…Parkinsonism may appear during the course of LD, but has been reported as a key or early symptom in only few patients with LD due to EPM2A or NHLRC1 mutations (Gökdemir et al, 2012; Hajnsek et al, 2013; Linch et al, 2016; Yildiz et al, 2017). In particular, the presence of Parkinsonism has been well described in a teenager who experienced difficulty in repetitive movements and resting tremor as the initial symptoms of the disease, followed by bradykinesia and rigidity in the following months (Yildiz et al, 2017).…”

“…The clinical presentation may be that of typical Parkinson disease, with rigidity, tremor and bradykinesia, but often includes atypical features, such as other movement disorders, early cognitive decline, behavioural disturbances, and epileptic seizures (Niemann and Jankovic, 2019). Parkinsonism may appear during the course of LD, but has been reported as a key or early symptom in only few patients with LD due to EPM2A or NHLRC1 mutations (Gökdemir et al, 2012;Hajnsek et al, 2013;Linch et al, 2016;Yildiz et al, 2017). In particular, the presence of Parkinsonism has been well described in a teenager who experienced difficulty in repetitive movements and resting tremor as the initial symptoms of the disease, followed by bradykinesia and rigidity in the following months (Yildiz et al, 2017).…”

A Rare Case: Lafora Disease

“…1,3 Başlangıç yaşı genelde 10-19 arasında değişmekle birlikte, 30 yaş gibi daha ileri yaşlarda başlangıç gösteren hastalarda bildirilmiştir. 4,5 Hastalık jeneralize tonik-klonik ve atipik absans nöbetler, miyoklonus, görsel halüsinasyonlar, ataksi ve kognitif yıkımla seyretmektedir. Görsel halüsinasyonlar oksipital nöbetlere bağlı olabileceği gibi epileptik kökenli olmayan görsel halüsinasyonlar da görülebilmektedir.…”