Jacobiene W. Weber

Cognitive and behavioral effects of nocturnal epileptiform discharges in children with benign childhood epilepsy with centrotemporal spikes

This review addresses the effects of subclinical localized epileptiform discharges during sleep in children with benign childhood epilepsy with centrotemporal spikes (BCECTS) on cognition and behavior. A diversity of educational deficits, behavioral impairments, language delay, and neuropsychological test results have been reported in children with BCECTS. The occurrence of atypical seizure characteristics seems to be related to language delay, and several atypical EEG characteristics are related to cognitive or behavioral problems. It remains to be shown whether treatment of nocturnal discharges in children with BCECTS is indicated to improve cognitive and behavioral problems.

EEG characteristics related to educational impairments in children with benign childhood epilepsy with centrotemporal spikes.

Purpose: Learning and behavioral difficulties often occur in benign childhood epilepsy with centrotemporal spikes (BCECTS). In recent years, several electroencephalogram (EEG) characteristics have been related to the occurrence of learning and behavioral problems.

Posterior reversible encephalopathy syndrome in paediatric leukaemia

This report describes four patients with acute lymphoblastic leukaemia, suffering from posterior reversible encephalopathy syndrome during the induction period of treatment. A review of the literature on posterior reversible encephalopathy syndrome in paediatric leukaemia is given. The exact mechanism of posterior reversible encephalopathy syndrome is not clear and seems to be multifactorial. Hypertension is likely to play a major role in the development but could be also secondary. All patients in this case series presented after introduction of the new induction protocol for acute lymphoblastic leukaemia. Treatment of hypertension is likely to have a favourable role and posterior reversible encephalopathy syndrome is most often reversible. It is important to consider this diagnosis during the induction phase of leukaemia treatment in the presence of neurological symptoms. The incidence of PRES in the induction scheme should be investigated, in order to optimize the ALL treatment.

Anatomy and surgery of the infected dermal sinus of the lower spine

ObjectCases of infected dermal sinus are scarce and detailed surgical anatomical descriptions are hardly found in literature. The clinical, radiological, and surgical findings in four cases of an infected dermal sinus located at the lower spine are presented to elucidate the pathological anatomical configuration.Clinical materialThe first case showed two dermal sinuses with a parallel course extra- and intradurally, ending in a confluence of cavities connected to the conus. In this case, as well as in the fourth case, the signs and symptoms were those of meningitis. The second case presented with meningitis and a subdural empyema, while the third case presented with an intradermoid–intramedullary abscess at the junction between the DS and the conus. This child probably showed signs and symptoms of conus involvement as early as during pregnancy.ConclusionThe anatomy of the nervous elements in this congenital anomaly is heavily disturbed, more particularly in case of infection, due to extensive arachnoidal scarring. The latter renders dissection laborious and recognition of anatomical details difficult, resulting in complete excision of a dermal sinus in less than half of the cases. Despite their variability in presentation, most cases of an infected dermal sinus show similar characteristic features.

The clinical spectrum of Blake’s pouch cyst: report of six illustrative cases

IntroductionAlthough Blake’s pouch cyst (BPC) is frequently mentioned in the spectrum of posterior fossa cysts and cystlike malformations since its first description in 1996, its natural history, clinical presentation, specific imaging characteristics, optimal treatment, and outcome are relatively unknown. Consequently, BPC may still be underdiagnosed. We therefore report six cases ranging from a fatal hydrocephalus in a young boy, over an increasing head circumference with or without impaired neurological development in two infants, to a decompensating hydrocephalus at an advanced age.DiscussionWe focus on their radiological uniformity, which should help making the correct diagnosis, and widely variable clinical presentation, which includes adult cases as well. Differentiating BPC from other posterior fossa cysts and cystlike malformations and recognizing the accompanying hydrocephalus are essentially noncommunicating, not only have important implications on clinical management but also on genetic counseling, which is unnecessary in case of BPC. In our experience, endoscopic third ventriculostomy is a safe and effective treatment option, avoiding the risks and added morbidity of open surgery, as well as many shunt-related problems.

Intraspinal dermoid and epidermoid tumors: report of 18 cases and reappraisal of the literature.

Intraspinal dermoid and epidermoid tumors are two histopathological subtypes of cutaneous inclusion tumors of the spine. This classification is based on obsolete embryological knowledge. In fact, according to current embryology, both tumor types consist of ectodermal derivatives. Therefore, we hypothesized that dermoid and epidermoid tumors do not differ in clinical practice. To explore this hypothesis, we studied the clinical, radiological and intraoperative findings of 18 patients, and related these findings to the histopathological characteristics of the tumor. No differences were found between dermoid and epidermoid tumors regarding clinical presentation, radiological examination and outcome, while intraoperative diagnosis by the surgeon correlated with the histopathological diagnosis in only 8 of 18 cases. Therefore, the histopathological difference between intraspinal dermoid and epidermoid tumors is not important in clinical practice and should be avoided. A new nomenclature is proposed in which both tumor types are referred to as ‘spinal cutaneous inclusion tumors’.

The spinal dermal-sinus-like stalk

ObjectsIn this study, a disjunction anomaly mimicking the spinal congenital dermal sinus (DS) is described. This anomaly is referred to as the dermal-sinus-like stalk. Dissimilarities between a true dermal sinus and a dermal-sinus-like stalk are discussed.Clinical materialThree cases in which a spinal congenital dermal sinus was suspected are presented. A similar anatomical configuration, different from that of a dermal sinus, was found. All cases presented with a skin-covered dimple from which a solid tract was seen continuing intramedullary in two cases and intraspinally in one case. None of the patients presented with signs of infection or an associated dermoid–epidermoid tumor. Clinical, radiological, and surgical findings are discussed. A hypothesis is made on the pathological genesis of this malformation.ConclusionA dermal-sinus-like stalk is a malformation similar to a spinal congenital dermal sinus but is not associated with DS-related complications. Despite important clinical, radiological, surgical, and histopathological differences, it is difficult to distinguish this malformation from a true DS based on clinical and radiological examination alone. Therefore, surgical intervention, at the time of diagnosis, is recommended in all cases.

Cryptogenic localization-related epilepsy with childhood onset: The problem of definition and prognosis.

BACKGROUND Up to one-third of children with epilepsy are diagnosed with cryptogenic localization-related epilepsy (CLRE). CLRE is a large nonspecific category within the ILAE classification. For this population no unequivocal prognosis exists. METHODS Twenty-five articles describing aspects of CLRE were included in this review. RESULTS As a result of the progress in epilepsy research, as well as more advanced investigation in individual cases, the population with CLRE constantly changes. Also, disagreement on interpretation of the classification has resulted in striking differences between the populations described. High remission rates are reported, but relapse occurs frequently, leaving the long-term prognosis unforeseeable. This is reflected in academic and psychosocial prognosis, which is described to be problematic in CLRE specifically. Possible prognostic factors of CLRE in children have been identified: age at onset, seizure semiology, seizure frequency, intractability, interictal epileptiform activity on EEG, and premorbid IQ. These factors are explored to define subgroups within the CLRE population. DISCUSSION Prospective studies on well-defined CLRE cohorts are needed to identify factors that distinguish various prognostic subgroups. Specific attention should be focused on course of the epilepsy, scholastic achievement, and psychosocial outcome.

Clinical characteristics and surgical outcome in 25 cases of childhood tight filum syndrome

OBJECTIVE Tight filum syndrome (TFS) is caused by a thick (abnormal T1 MRI), shortened (low-lying conus), or non-elastic filum (strictly normal MRI). We carefully analyzed children treated for suspect TFS with or without radiological abnormalities. METHODS Twenty-five children, operated between 2002 and 2009, were retrospectively identified. All children had been evaluated by a multidisciplinary team preoperatively. Symptoms, signs and diagnostic test results were categorized (neurologic, urologic, orthopedic, dermatologic) and compared pre- and one year postoperatively. Normal MR was defined as conus medullaris (CM) at or above mid-body L2 and filum diameter less than 2 mm. Occult TFS (OTFS) was defined as TFS with normal MR. RESULTS DEMOGRAPHICS 17 girls, 8 boys, age 2-18 years, including 11 syndromal children. CLINICAL PRESENTATION all children had problems in the neurologic category and at least one other category: urologic (n = 17), orthopedic (n = 21), and dermatologic (n = 11). MR findings: low-lying CM (n = 14) including 2 with thick filum, normal CM but fatty filum (n = 2), strictly normal (n = 9). Clinical outcome one year postoperatively: neurologic 20 improved, 5 stabilized; urologic 13 improved, 3 stabilized, 1 worsened; orthopedic (8 children presenting with scoliosis) 3 improved, 4 stabilized, 1 worsened. All children with OTFS (n = 9) improved in at least one and 8 improved in all affected categories. CONCLUSIONS Children with strong clinical suspicion for TFS (≥ 2 affected categories) with or without abnormal MR findings will likely benefit from surgery. In such cases we suggest a detailed full spine MR, a multidisciplinary diagnostic work-up, and eventual untethering through an interlaminar microsurgical approach.

Diagnostic radiation exposure in children with spinal dysraphism: an estimation of the cumulative effective dose in a cohort of 135 children from The Netherlands

Objective Based on the assumption that children with spinal dysraphism are exposed to a large amount of ionising radiation for diagnostic purposes, our objective was to estimate this exposure, expressed in cumulative effective dose. Design Retrospective cohort study. Settings The Netherlands. Patients 135 patients with spinal dysraphism and under 18 years of age treated at our institution between 1991 and 2010. Results A total of 5874 radiological procedures were assessed of which 2916 (49.6%) involved ionising radiation. Mean cumulative effective dose of a child with spinal dysraphism during childhood was 23 mSv, while the individual cumulative effective dose ranged from 0.1 to 103 mSv. Although direct radiography accounted for 81.7% of examinations, the largest contributors to the cumulative effective dose were fluoroscopic examinations (40.4% of total cumulative effective dose). Conclusions Exposure to ionising radiation and associated cancer risk were lower than expected. Nevertheless, the use of ionising radiation should always be justified and the medical benefits should outweigh the risk of health detriment, especially in children.