Hans Stroink

A new leukoencephalopathy with vanishing white matter

We identified nine children with a leukoencephalopathy of similar type according to clinical and MRI findings. The patients included three affected sibling pairs. The age range was 3 to 19 years. The onset of the disease was in childhood; the course was both chronic-progressive and episodic. There were episodes of deterioration following infections and minor head traumas, and these could result in unexplained coma. In eight patients with advanced disease, MRI revealed a diffuse cerebral hemispheric leukoencephalopathy, in which increasing areas of the abnormal white matter had a signal intensity close to that of CSF on all pulse sequences. In one patient in the early stages of disease, initial MRI showed diffusely abnormal cerebral white matter, which only reached the signal characteristics of CSF at a later stage. In the patients in whom the disease was advanced, magnetic resonance spectroscopy (MRS) of the white matter showed an almost complete disappearance of all normal signals and the presence of glucose and lactate, compatible with the presence of mainly CSF and little brain tissue. Spectra of the cortex were much better preserved. However, in addition to the normal resonances, there were signals representing lactate and glucose. MRS of the white matter in the patient whose disease was at an early stage was much less abnormal. Autopsy in one patient confirmed the presence of extensive cystic degeneration of the cerebral white matter with reactive change and a preserved cortex. Typical involvement of pontine tegmental white matter was suggested by MRI and confirmed by autopsy. The disease probably has an autosomal recessive mode of inheritance, but the basic metabolic defect is not known.

Course and outcome of childhood epilepsy: A 15-year follow-up of the Dutch Study of Epilepsy in Childhood

Purpose:  To study the course and outcome of childhood‐onset epilepsy during 15‐year follow‐up (FU).

The first unprovoked, untreated seizure in childhood: a hospital based study of the accuracy of the diagnosis, rate of recurrence, and long term outcome after recurrence. Dutch study of epilepsy in childhood.

OBJECTIVE To assess the accuracy of the diagnosis of a first unprovoked seizure in childhood, the recurrence rate within two years, the risk factors for recurrence, and the long term outcome two years after recurrence. METHODS One hundred and fifty six children aged 1 month to 16 years after a first seizure, and 51 children with a single disputable event were followed up. The diagnosis of a seizure was confirmed by a panel of three child neurologists on the basis of predescribed diagnostic criteria. None of the children was treated after the first episode. RESULTS Five children with a disputable event developed epileptic seizures during follow up. The diagnosis did not have to be revised in any of the 156 children with a first seizure. The overall recurrence rate after two years was 54%. Significant risk factors were an epileptiform EEG (recurrence rate 71%) and remote symptomatic aetiology and/or mental retardation (recurrence rate 74%). For the 85 children with one or more recurrences, terminal remission irrespective of treatment two years after the first recurrence was >12 months in 50 (59%), <six months in 22 (26%), and six to 12 months in 11 (13%) and unknown in two (2%). Taking the no recurrence and recurrence groups together, a terminal remission of at least 12 months was present in 121 out of the 156 children (78%). CONCLUSIONS The diagnosis of a first seizure can be made accurately with the help of strict diagnostic criteria. The use of these criteria may have contributed to the rather high risk of recurrence in this series. However, the overall prognosis for a child presenting with a single seizure is excellent, even if treatment with antiepileptic drugs is not immediately instituted.

Evolution of Epilepsy and EEG Findings in Angelman Syndrome

Summary: Purpose: To evaluate the evolution of epileptic seizures and EEG features in a large group of patients with Angelman syndrome (AS).

A prospective 10 year follow up study of patients with neurofibromatosis type 1

OBJECTIVE To establish the prevalence and incidence of symptoms and complications in children with neurofibromatosis type 1 (NF1) and to assess possible risk factors for the development of complications. DESIGN A 10 year prospective multidisciplinary follow up study. PATIENTS One hundred and fifty children diagnosed with NF1 according to criteria set by the National Institutes of Health. RESULTS In 62 of 150 children (41.3%) complications were present, including 42 (28.0%) children with one complication, 18 (12.0%) with two complications, and two (1.3%) with three complications (mean (SD) duration of follow up 4.9 (3.8) years). Ninety five of the 150 children presented without complications (follow up, 340.8 person-years). The incidence of complications was 2.4/100 person-years in this group. An association was found between behavioural problems and the presence of complications. CONCLUSION This is the largest single centre case series of NF1 affected children followed until 18 years of age. Children with NF1, including those initially presenting without complications, should have regular clinical examinations.

Familial Occurrence of Epilepsy in Children with Newly Diagnosed Multiple Seizures: Dutch Study of Epilepsy in Childhood

Summary: Purpose: To study the familial occurrence of epilepsy in children with newly diagnosed multiple unprovoked seizures.

Randomized prospective study of early discontinuation of antiepileptic drugs in children with epilepsy

We studied recurrence rate, risk factors for recurrence, and outcome after recurrence in children after early withdrawal of antiepileptic drugs (AEDs). One hundred sixty-one children with newly diagnosed epilepsy who had become seizure free within 2 months after starting treatment and remained so for 6 months were randomly assigned to immediate withdrawal of AEDs (n = 78) or continuation of treatment for another 6 months followed by withdrawal (n = 83). The probability of remaining seizure free at 24 months after randomization was 51% (95% CI, 40 to 62) in Group A and 52% (41 to 63) in Group B. Significant predictive factors for relapse were partial epilepsy, seizure onset at 12 years or older, defined etiology, and epileptiform EEG before randomization. At the end of follow-up (median, 41.9 months), 129 children (80.6%) had a terminal remission of at least 1 year, 88 without AEDs and 41 with AEDs. No significant difference in outcome was found between Groups A and B. In children with epilepsy and an early response to therapy, AED withdrawal after 6 or 12 months of treatment leads to seizure recurrence in approximately half of all patients regardless of the duration of therapy. More than 60% of those with one or more recurrences reach a terminal remission of at least 1 year after long-term follow-up with or without AEDs.

The Diagnostic Yield of a Second EEG After Partial Sleep Deprivation: A Prospective Study in Children with Newly Diagnosed Seizures

Summary: Purpose: To assess the diagnostic yield of a repeated EEG (REPEEG) after partial sleep deprivation (SD) in children and adolescents with one or more seizures who previously had had a standard EEG (STDEEG) without epileptiform abnormalities (EAs). In the literature, 32–75% of such REPEEGs after SD were reported to show EA.

Health perception and socioeconomic status following childhood-onset epilepsy: The Dutch study of epilepsy in childhood

Purpose: Epilepsy may have far‐reaching consequences for patients, other than having seizures and medication. At 15 years after diagnosis, this study investigates health perception, restrictions due to epilepsy, living arrangements (including marital status and offspring), and the educational and occupational attainment of patients with childhood‐onset epilepsy.

How confident are we of the diagnosis of epilepsy

Summary:  The diagnosis of a first seizure or epilepsy may be subject to interobserver variation and inaccuracy with possibly far‐reaching consequences for the patients involved. We reviewed the current literature.