Recurrent absence status epilepticus (spike-and-wave stupor) associated with lamotrigine therapy.

We report on the aggravation of absence seizures by lamotrigine leading to absence status epilepticus in a child. The patient is a 10-year-old girl with a history of absence seizures, learning disabilities, and hereditary neuropathy with liability to pressure palsies. Lamotrigine (up to 12 mg/kg/day) was prescribed after a brief course of valproate was associated with restlessness. Long-acting methylphenidate was also administered. The initial response to lamotrigine appeared to be excellent. The first episode of absence status epilepticus occurred during a febrile illness while lamotrigine was being gradually discontinued. Following this event, lamotrigine dose was increased to 10 mg/kg/day and methylphenidate was continued. Six weeks later, a second absence status epilepticus episode ensued without fever. Sulthiame and clonazepam were substituted for lamotrigine, whereas methylphenidate therapy was continued. A psychiatrist prescribed risperidone 1 month later owing to obsessive-compulsive behavior. Nine months later, she remained free of absence seizures. Whereas the first absence status epilepticus event could have been triggered by fever, the second episode occurred while the daily lamotrigine dose was being increased. Moreover, the patient is seizure free following lamotrigine discontinuation. Hence, it is quite possible that lamotrigine caused seizure aggravation and absence status epilepticus in this child.

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness and in some cases, mental retardation and deafness. Other neurological complications, particularly epilepsy, are rare. We report on a novel mutation identified in a patient with ND and profound mental retardation. The patient was diagnosed at the age of 6 months due to congenital blindness. At the age of 8 months he developed infantile spasms, which were diagnosed at 11 months as his EEG demonstrated hypsarrhythmia. Mutation analysis of the ND gene (NDP) of the affected child and his mother revealed a novel missense mutation at position c.134T > A resulting in amino acid change at codon V45E. To the best of our knowledge, such severe neurological involvement has not been previously reported in ND patients. The severity of the phenotype may suggest the functional importance of this site of the NDP gene.

Adding video recording increases the diagnostic yield of routine electroencephalograms in children with frequent paroxysmal events.

PURPOSE: To report on the usefulness of adding video recording to routine EEG studies of infants and children with frequent paroxysmal events. METHODS: We analyzed the efficacy of this diagnostic means during a 4-year period. The decision whether to add video recording was made by the pediatric EEG interpreter at the time of the study. Studies were planned to last between 20 and 30 min, and, if needed, were extended by the EEG interpreter. For most studies, video recording was added from the beginning of EEG recording. In a minority of cases, the addition of video was implemented during the first part of the EEG test, as clinical events became obvious. In these cases, a new study (file) was begun. The success rate was analyzed according to the indications for the EEG study: paroxysmal eye movements, tremor, suspected seizures, myoclonus, staring episodes, suspected stereotypias and tics, absence epilepsy follow-up, cyanotic episodes, and suspected psychogenic nonepileptic events. RESULTS: Video recording was added to 137 of 666 routine studies. Mean patient age was 4.8 years. The nature of the event was determined in 61 (45%) of the EEG studies. Twenty-eight percent were hospitalized patients. The average study duration was 26 min. This diagnostic means was particularly useful for paroxysmal eye movements, staring spells, myoclonic jerks, stereotypias, and psychogenic nonepileptic events. About 46% of 116 patients for whom cognitive data were available were mentally retarded. EEG with added video recording was successfully performed in all 116 cases and provided useful information in 29 (55%) of these 53 patients. CONCLUSIONS: Adding video recording to routine EEG was helpful in 45% of cases referred for frequent paroxysmal events. This technique proved useful for hospitalized children as well as for outpatients. Moreover, it was successfully applied in cognitively impaired patients. Infants and children with paroxysmal eye movements, staring spells, myoclonic jerks, stereotypias, and pseudoseizures especially benefited from this diagnostic means. Because of its low cost and the little discomfort imposed on the patient and his or her family, this technique should be considered as a first diagnostic step in children with frequent paroxysmal events.