1/10. An unusual case of Lafora body disease. A case is described in which non-convulsive status epilepticus (NCSE) prompted further investigation leading to the diagnosis of Lafora body disease (LBD). The onset of NCSE was temporally related to the withdrawal of sodium valproate and introduction of carbamazepine, which may have been precipitating factors. NCSE has not previously been reported in LBD. Implications for its drug management are discussed. ( info) |
| lafora disease is a fatal neurometabolic disorder characterized by progressive myoclonic epilepsy. diagnosis relies upon the discovery of specific inclusion bodies in any of several organs. Dermatologists and dermatopathologists should be familiar with this condition because axillary skin biopsy is useful to diagnose this disorder. We present a case of lafora disease diagnosed by axillary skin biopsy and review the condition's clinical, histologic, and ultrastructural features. ( info) |
3/10. A case of Lafora's disease associated with cardiac arrhythmia. Progressive myoclonic epilepsies are rare, genetically transmitted diseases characterized by epileptic seizures, myoclonus, and progressive neurologic deterioration. Unverricht-Lundborg disease, Lafora's disease, neuronal ceroid lipofuscinosis, mitochondrial disorders, and sialidosis are included in this group. Lafora's disease is a progressive disorder of the central nervous system with onset in the late first or second decade of life and is inherited in an autosomal-recessive pattern. The first clinical manifestation is generalized tonic-clonic seizures, myoclonus, or both, usually seen between the ages of 11 and 18 years. The other clinical manifestations are progressive dementia and limb ataxia. diagnosis is based on showing the typical inclusions in the brain, liver, skin, or muscle tissue specimens. The case of a 6-year-old male patient, who was admitted with the clinical findings of third-degree atrioventricular block and dementia and eventually diagnosed with Lafora's disease, is presented. ( info) |
| Progressive myoclonic epilepsies (EPM) are difficult to treat and refractory to most antiepileptic drugs. Besides epilepsy, EPMs also involve continuous neurological deterioration. oxidative stress is thought to be an important factor in this process. We therefore analyzed a series of antioxidant enzymes in the blood of patients and compared with healthy age matched controls. In addition patients were given high doses of N-acetylcysteine (NAC), a glutathione percursor to determine if symptoms of EPM would improve. Five patients, four with EPM 1 (Unverricht-Lundborg disease) and one patient with EPM2 (Lafora body disease) were treated with 6 g/day of NAC. Before treatment, plasma samples were analyzed for glutathione peroxidase activity, catalase activity, extracellular superoxide dismutase (SOD) and CuZn-SOD and compared with the controls. Erythrocyte CuZn-SOD was significantly lower in the EPM patients compared to controls. NAC improved markedly and stabilized the neurological symptoms in patients with EPM 1 but had a doubtful effect in the patient with EPM 2. ( info) |
5/10. Long-term observations of two siblings with lafora disease treated with zonisamide. We have reported long-term clinical follow-up for two siblings with lafora disease, a brother and sister, one of whom autopsied. Both siblings had repeated attacks of severe myoclonus, tonic and tonic-clonic convulsions, and intractable status epilepticus. The addition of orally administered zonisamide brought about striking effective seizure control for about 12-14 years in both patients, relieving not only myoclonus and generalized tonic-clonic seizures but also intractable status epilepticus. ( info) |
6/10. Unusual presentation of Lafora's disease. Lafora's disease is a progressive myoclonus epilepsy with onset in adolescence and a gradual decline in cognitive functions and increase in seizure intractability. We present the case of a 16-year-old with precipitous dementia within 6 months of onset. Peripheral biopsies and EPM2A mutation analysis were negative. The diagnosis could be established only by brain biopsy. ( info) |
| Lafora-body disease (LBD) is a rare neurometabolic disorder of autosomal recessive inheritance associated with progressive myoclonic epilepsy. We report here the first description of ictal and interictal recording by electroencephalography (EEG) and magnetoencephalography (MEG) of a 15-y-old girl suffering from LBD. CONCLUSIONS: Complementary use of MEG and EEG might be of future help to the clinician in better defining the pathophysiology of complex seizures, and also in patients with progressive neurological disorders, despite the poor prognosis of syndromes such as LBD. ( info) |
8/10. Bioptically demonstrated lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters. lafora disease (LD) is an autosomal recessive inherited form of progressive myoclonic epilepsy with dementia and ataxia, usually presenting in the second decade of life and inexorably progressing until death. Neuropathological hallmarks are Lafora bodies, intracytoplasmic inclusions that can be found in neurons and in other tissues. LD gene (EPM2A), mapping on chromosome 6, encodes for a tyrosine phosphatase protein called laforin. However, up to 20% cases of LD are not genetically linked to chromosome 6. We report two sisters affected from bioptically diagnosed LD but without evidence of EPM2A mutation. Although familial cases of LD are already reported in literature, our observation leads to some considerations on clinical-electrophysiological evolution as well as to remark the genetic heterogeneity of this condition. In addition, we report the good effect of the Levetiracetam for the treatment of myoclonus in these patients, also demonstrated by the electrophysiological findings. ( info) |
9/10. Mechanisms of unexpected and/or sudden death in lafora disease. A 23-year-old male was found dead wedged between two chairs at his home address. His past history included a diagnosis of lafora disease (a type of heritable progressive myoclonic epilepsy) at the age of 16 years. This had been characterised by the development of epilepsy and progressive motor impairment and mental deterioration. diagnosis had been confirmed by demonstration of mutation in the EPM2A gene on chromosome 6q24. At autopsy, petechial haemorrhages were noted of the face and conjunctivae bilaterally. There were no other significant findings apart from gastric contents within the airways. death was attributed to positional asphyxia complicated by aspiration of gastric contents. Although death in lafora disease is usually predictable and often protracted, sudden and/or unexpected death may occur and involve status epilepticus, sudden unexpected epileptic death, choking, aspiration of gastric contents, and cardiac arrhythmias. In addition, the possibility exists of unnatural causes of death, such as accidents, provoked by epilepsy or physical inability of the victims to extricate themselves from dangerous situations, or homicides, provoked by difficulties in caring for individuals with significant and progressive disabilities. ( info) |
| The authors report a patient with lafora disease, whose myoclonus was suppressed by passive eye closure. Neurophysiologic studies disclosed that fixation was the most important enhancer of myoclonus. Magnetoencephalographic studies of visual evoked fields revealed abnormal activation of the visual corticocortical pathway via the insular cortex not seen in controls. The authors hypothesize that abnormal activation of the insular cortex may be involved in triggering the mechanism of fixation-sensitive myoclonus. ( info) |