Myoclonic encephalopathy associated with proton pump inhibitors

Two men (66 and 73 Years) with a cardiovascular history were hospitalized for rapid onset encephalopathy associated with myoclonia and an extrapyramidal syndrome. On the basis of the French Pharmacovigilance system, this symptomatology has been attributed to the coadministration of a proton pump inhibitor, lansoprazole (15mg/day) with levodopa. Lansoprazole withdrawal led to a normalisation of the situation.     

Longitudinal neurodevelopmental evolution in children with severe non-progressive encephalopathy

Aim: The aim of this study was to evaluate the longitudinal neurodevelopmental evolution in children with severe non-progressive encephalopathy. Methods: Between 1984 and 2005, 17 patients diagnosed with severe non-progressive encephalopathy under the care of the Institute Provvida Madre underwent neurodevelopmental evaluation on an annual basis for at least five consecutive years using the Munich Functional Developmental Diagnostics (MFDD). The severity of each patient’s encephalopathy was assessed using the Capacity Profile (CAP). Longitudinal development trends were assessed by means of linear regression analysis, while the degree of discontinuity of the development trajectories was quantified using the Mean Absolute Deviation from Perfect Linear Development (MADPLD). Spearman’s rank correlation coefficient and the Mann–Whitney test have been used to investigate the statistical significance of the relationships among the various parameters. Results: We found that patients with severe non-progressive encephalopathy showed, on average, a linear maturation of 1.5–2.5 months per year, irrespective of the neurodevelopmental area considered. Nevertheless, we also discovered that the development trajectories could be discontinuous. Indeed, a given child can show no development sign at all for many years and then suddenly encounter a “development jump”, especially in the active language and autonomy areas. However, the long-term development linearity hypothesis seemed to hold true in our study. We also found evidences suggesting that faster development in a given domain could be linked to faster development in other domains, that higher discontinuity in a given area could be associated with higher discontinuity in other areas and that higher degrees of discontinuity could be related to lower developmental evolutions. Conclusions: The main findings of this study are important for physicians to form prognoses, counsel effectively and appropriately target therapeutic interventions. In this perspective, there is a strong need to collect long-term repeated follow-up data concerning this group of infants in order to reinforce the findings presented. In fact, these results should be considered as a starting point for further research because they are based on a limited number of patients and more data are needed to confirm the findings.     

Myoclonic encephalopathy and diabetes mellitus in a boy

We describe an 18-month-old boy with insulin-dependent diabetes mellitus who developed idiopathic myoclonic encephalopathy (dancing eye syndrome) at 26 months of age. The neurological symptomatology (multifocal myoclonus, opsoclonus, ataxia, behavioural disturbance) developed within 10 to 14 days after presentation. Biological, neuroradiological, and scintigraphic examination excluded CNS infectious diseases, intoxication, or tumours. At onset of diabetes mellitus, anti-glutamic-acid decarboxylase (GAD) antibodies were observed, and markedly increased in titre when myoclonic encephalopathy occurred. Corticosteroid treatment resulted in a decrease in anti-GAD autoantibody titres and the disappearance of neurological disturbances. As GAD is expressed both in pancreatic beta-cells and cerebellar Purkinje cells, it is possible that a common autoimmune disorder in this patient may account for both the diabetes and myoclonic encephalopathy.     

Myoclonic epilepsy masquerading as a tic disorder

Myoclonic epilepsies comprise a heterogeneous group of epileptic syndromes characterized by myoclonic jerks, generalized tonic-clonic seizures (GTCSs), and sometimes absence seizures (multiplicity of seizure types). JME (Juvenile Myoclonic Epilepsy) is relatively common and usually responds well to treatment with appropriate anticonvulsants. Others like the progressive myoclonic epilepsy syndromes are relentlessly progressive, associated with cognitive decline and respond poorly to anticonvulsants. Myoclonic epilepsy is frequently misdiagnosed until the patient is specifically asked about the leading symptom, i.e., jerky movements occurring in the morning. We present here a patient who had been misdiagnosed as a tic disorder and treated for the past many years before the correct diagnosis of myoclonic epilepsy was made during an admission for Video-EEG monitoring.     

Myoclonic encephalopathy in the CDKL5 gene mutation.

OBJECTIVE: Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms. The purpose of this study was to analyze the epileptic histories and EEGs of patients with the CDKL5 mutation. METHODS: We reviewed the epilepsy histories and electroclinical analyses of three girls aged 9.5, 7.4, and 9.4 years, each with a mutation of the CDKL5 gene. RESULTS: We revealed the presence of an encephalopathy that started by 1.5 months of age. At first, seizures involved tonic spasms or complex partial seizures, and were complicated by the later appearance of complex partial, tonic, and unexpectedly, myoclonic seizures. This form of epilepsy was drug resistant. Routine and prolonged video EEGs both displayed a homogeneous electroclinical pattern consisting of (a) unique background with diffuse high voltage sharp waves of 6-7 Hz, and absence of the typical rhythmic frontal-central theta activity present in Rett syndrome; (b) unique awake and sleep background, with diffuse, high voltage, continuous sharp waves with multifocal and diffuse spikes; (c) rhythmic, diffuse, 15 Hz activity accompanied clinically by tonic seizures; (d) intercritical pattern with pseudoperiodic, diffuse, sharp waves or pseudoperiodic, diffuse spike and polyspike or wave discharges; and (e) diffuse, spike, polyspike and wave discharges accompanied by massive or focal myoclonias or both. CONCLUSIONS: Patients with the CDKL5 mutation have an early onset, epileptic encephalopathy in infancy that evolves into myoclonic seizures in childhood with a unique EEG pattern. SIGNIFICANCE: Recognizing this type of encephalopathy could be useful in prompting clinicians to proceed further with their diagnostic work in patients not fitting the criteria of classical Rett syndrome.     

Myoclonic astatic epilepsy and the use of the ketogenic diet

Myoclonic astatic epilepsy (MAE) is a rare childhood generalized epilepsy syndrome of unknown incidence and etiology. Onset may be explosive with a myriad of different seizure types and children may become severely affected with an epileptic encephalopathy. This disorder may be particularly sensitive to the ketogenic diet (KD). This article will briefly review the background, diagnostic criteria's and our current information regarding the use of dietary therapies in MAE.     

Epilepsy. Genetics of early-onset epilepsy with encephalopathy

Genetically determined epilepsy with encephalopathy can develop early in life, often with prenatal onset, which makes diagnosis difficult. New molecular screening studies have identified causative mutations in patients with early-onset epilepsy with encephalopathy. What can we learn from the results of genetic screening in patients with this disorder?     

Myoclonic encephalopathy due to bismuth salts: treatment with dimercaprol and analysis of CSF transmitters

Two cases of myoclonic encephalopathy due to bismuth salts intoxication are reported. In both, treatment with dimercaprol led to clinical recovery. This therapy was shown to enhance bismuth clearance. We also present data on the CSF metabolites dopamine, norepinephrine and serotonin of one patient.     

Myoclonic epilepsy in an HIV positive patient: neurophysiological findings.

An HIV-positive patient is described who presented with action myoclonus. Unusually, focal sinusoidal EEG burst complexes with a frequency of 40 and 55 Hz could be recorded over the sensorimotor cortex. Activity having a similar frequency was evoked in this area by posterior tibial nerve stimulation in the affected leg, and jerk-locked averaging showed that myoclonic jerks were preceded by similar cortical sinusoidal waves.     

Myoclonic jerks are commonly associated with absence seizures in early‐onset absence epilepsy

Aim. Typical absence seizures are observed in various epilepsy syndromes, however, few series have focused on early‐onset absence epilepsy (EOAE). We aimed to evaluate the occurrence of this seizure type in children under 4 years of age in order to evaluate their electroclinical characteristics and outcome. Methods. We retrospectively studied (2006–2014) the electroclinical features of children with normal development and typical absence seizures starting before the age of 4 (with available pre‐treatment video‐EEG). Results. Nine patients were included. Among them, eight patients had rhythmic myoclonic jerks involving the muscles of the upper face (eyebrows and eyelids) or neck, present from the onset to the end of the typical absence discharge. The myoclonia were synchronous with spike‐wave complexes. One patient with GLUT‐1 deficiency was refractory to antiepileptic polytherapy. The other eight became seizure‐free; five with one antiepileptic drug and three with a combination of two drugs. The treatment was successfully withdrawn in five of the six patients who achieved two years of seizure freedom. None of them exhibited any other seizure type. Four of the eight patients with normal schooling required some support. We observed a positive correlation between the duration of absence seizure and the age of the patient at examination. Conclusion. Most of the patients under four years with only typical absence seizures had EOAE, and the motor symptoms may represent a distinctive age‐related feature of EOAE. Further investigations are required to better correlate the role of brain maturation with the duration of the absence. [Published with video sequence on www.epilepticdisorders.com ]     

Myoclonic epilepsy in infancy with preceding or concurrent afebrile generalized tonic-clonic seizures in Chinese children

Objective

To investigate the general characteristics and the category of myoclonic epilepsy in infancy (MEI) with or without afebrile generalized tonic-clonic seizures (GTCS).

Myoclonic encephalopathy due to bismuth following colectomy. Apropos of a case]

Bismuth encephalopathy mainly affects chronic constipation sufferers. The case described, which is practically identical, should be considered (in the absence of constipation) within the context of resection for cancer. The responsibility of bismuth, suggested in five similar cases by Burns and colleagues, is here confirmed by the blood, C.S.F. and urine levels. The mechanism of encephalopathy and the possibility of a failure to eliminate bismuth affecting these levels are discussed.     

Myoclonic seizures with lithium

Myoclonus has been infrequently observed in patients receiving lithium therapy, and associated electroencephalographic (EEG) changes have not been well described. We report two women, ages 35 and 48, who, after the initiation of lithium carbonate therapy, had several generalized tonic-clonic seizures followed by myoclonic seizures. In both, myoclonus was associated with repetitive sharp waves on the EEG. Although the epileptogenicity of lithium remains controversial, the occurrence of myoclonic seizures associated with lithium treatment suggests a proconvulsant effect of lithium in susceptible individuals.