Pediatric Idiopathic Intracranial Hypertension Presenting With Sensorineural Hearing Loss.

OBJECTIVE: To present the rare case of a young boy with idiopathic intracranial hypertension presenting with bilateral sensorineural hearing loss developing over several months. This was accompanied by headaches, otalgia, tinnitus, and vertigo. Furthermore, we aim to provide a concise review on this matter, as this report represents the second case in literature of pediatric idiopathic intracranial hypertension presenting with hearing loss. METHODS: Workup of a 9-year-old boy with bilateral sensorineural hearing loss, including (among others) physical examination, audiometry, diagnostic imaging, and lumbar puncture. RESULTS: Physical examination including fundoscopy as well as imaging showed no abnormalities. At presentation, pure tone audiometry revealed bone conduction thresholds of about 30 dB HL in both ears. Two months later, this declined to about 35 dB HL in both ears. Lumbar puncture revealed an increased intracranial pressure. The boy was thus diagnosed with idiopathic intracranial hypertension. After the lumbar puncture, the otological complaints gradually resolved, and the hearing normalized (bone conduction thresholds of 0-5 dB HL). CONCLUSION: Although rare, sensorineural hearing loss in the pediatric population together with otalgia, tinnitus, and vertigo can be due to idiopathic intracranial hypertension and as such can be reversible.

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.

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. 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.

The lumbosacral angle does not reflect progressive tethered cord syndrome in children with spinal dysraphism.

PURPOSE: Our goal was to validate the hypothesis that the lumbosacral angle (LSA) increases in children with spinal dysraphism who present with progressive symptoms and signs of tethered cord syndrome (TCS), and if so, to determine for which different types and/or levels the LSA would be a valid indicator of progressive TCS. Moreover, we studied the influence of surgical untethering and eventual retethering on the LSA. METHODS: We retrospectively analyzed the data of 33 children with spinal dysraphism and 33 controls with medulloblastoma. We measured the LSA at different moments during follow-up and correlated this with progression in symptomatology. RESULTS: LSA measurements had an acceptable intra- and interobserver variability, however, some children with severe deformity of the caudal part of the spinal column, and for obvious reasons those with caudal regression syndrome were excluded. LSA measurements in children with spinal dysraphism were significantly different from the control group (mean LSA change, 21.0° and 3.1° respectively). However, both groups were not age-matched, and when dividing both groups into comparable age categories, we no longer observed a significant difference. Moreover, we did not observe a significant difference between 26 children with progressive TCS as opposed to seven children with stable TCS (mean LSA change, 20.6° and 22.4° respectively). CONCLUSIONS: We did not observe significant differences in LSA measurements for children with clinically progressive TCS as opposed to clinically stable TCS. Therefore, the LSA does not help the clinician to determine if there is significant spinal cord tethering, nor if surgical untethering is needed.

Motor function in children with cryptogenic localization related epilepsy.

INTRODUCTION: In CLRE specific learning difficulties and motor problems may occur. The aim of this study is to examine whether CLRE or the accompanying specific learning difficulties are associated with the occurring problems in motor function. METHODS: Motor functioning in 140 children with CLRE and without epilepsy, as well as with and without specific learning difficulties is compared using Chi-square. RESULTS: In the CLRE group 35% score below the 5th percentile (poor motor function). No correlations with epilepsy variables or the occurrence of specific learning difficulties is found. DISCUSSION: A subgroup of about one-third of children with CLRE are at risk for poor motor function. Their development is best monitored using a multi-dimensional approach, including cognitive development and motor functioning.

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

INTRODUCTION: Although 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. DISCUSSION: We 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.

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.

Solitary juvenile xanthogranuloma of the temporal muscle and bone penetrating the dura mater in a 2-month-old boy.

Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder primarily observed during the first 2 years of life. Most patients present with a solitary cutaneous lesion; however, others present with extracutaneous manifestations or even with systemic involvement. The authors describe a 2-month-old boy in whom was diagnosed a unifocal extracutaneous JXG involving the temporal bone. Unlike 3 other cases of solitary JXGs of the temporal bone in the literature, the present case involved destruction of the dura mater and leptomeningeal enhancement surrounding the entire temporal lobe. The lesion did not regress after an initial biopsy procedure and had to be removed more radically because of progressive mass effect on the brain. The child recently underwent a reconstructive skull procedure and is doing well almost 2 years postoperatively without evidence of disease. This case demonstrates that even in instances of extensive disease a favorable outcome is possible without chemotherapy.

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. METHODS: From 28 children medical, school and psychological reports were present and children were rated according to a 4-point scale for educational and behavioral impairment (Part 1). Thirty 24-h EEG recordings were reanalyzed for spike frequency, the presence of atypical EEG criteria, and the presence of a nondipole spike. EEGs were scored during wakefulness, first hour of sleep and whole night sleep (minus the first hour of sleep) separately (Part 2). RESULTS: The presence of I: an intermittent slow-wave focus during wakefulness, II: a high number of spikes in the first hour of sleep (and during whole night sleep), and III: multiple asynchronous bilateral spike-wave foci in the first hour of sleep correlates significantly with a sum score > or = 3 which indicates a complicated course with educational or behavioral impairment. It is sufficient to analyze an EEG during wakefulness and a sleep EEG for only the first hour of sleep instead of a whole night recording to demonstrate those EEG criteria. CONCLUSIONS: On basis of our reanalysis we can possibly conclude that the aforementioned EEG characteristics correlate with educational impairments, and that analysing an EEG recording during wake and the first hour of sleep is sufficient to look adequately for those EEG criteria in children with BCECTS.

Cryptogenic localization related epilepsy in children from a tertiary outpatient clinic: is neurological and neuropsychological outcome predictable?

OBJECTIVES: Up to one-third of the children with epilepsy are diagnosed with cryptogenic localization related epilepsy (CLRE). As yet, there is a lack of studies that specify the short- and long-term prognosis for this group. In this study, we systematically established neurological outcome (represented by seizure frequency) as well as neuropsychological outcome in a cohort of 68 children with CLRE who had been referred to our tertiary outpatient clinic. Also, we analysed correlations with risk and prognostic factors. PATIENTS AND METHODS: A systematic cross-sectional open clinical and non-randomized design was used including 68 children admitted to our epilepsy centre in a child neurological programme between January 1999 and December 2004. A model was defined, distinguishing risk factors with a potential effect on epileptogenesis (history of febrile seizures, family history of epilepsy, history of early mild development delay and serious diagnostic delay) and prognostic factors, with a potential effect on the course of the epilepsy (neurological symptoms or soft signs, age at onset, duration of epilepsy, seizure type, percentage of time with epileptiform activity, localization of epileptiform activity, treatment history and treatment duration). Seizure frequency was used as the primary outcome variable, whereas three neuropsychological outcomes (IQ, psychomotor delay and educational delay) were used as secondary outcome variables. RESULTS: The children experienced a broad range of seizure types with the 'absence-like' complex partial seizure as the most commonly occurring seizure type. Almost half of the children of the study sample had a high seizure frequency. They experienced several seizures per month, week or even daily seizures. Also a substantial impact on neuropsychological outcome was observed. Mean full scale IQ was 87.7, mean academic delay was almost 1 school year and 27 children showed psychomotor delay on the Movement ABC. Only 'having more than one seizure type' showed a prognostic value for seizure frequency, and no factors were found to be correlated with the secondary outcome measures. None of the risk factors show a differential impact on seizure outcome. CONCLUSION: CLRE has a non-predictable course; clinical variability is high and prognosis in many children with CLRE is obscure. Having more than one seizure type was the only factor correlated to seizure frequency. Further longitudinal studies are needed.

The validity of a separate classification of cryptogenic localization related epilepsy amongst childhood epilepsies.

INTRODUCTION: One-third of children with epilepsy are classified as having a cryptogenic localization related epilepsy (CLRE). In cohort studies CLRE is often grouped together with either symptomatic localization related epilepsy (SLRE) or idiopathic generalized epilepsy (IGE). Therefore, this categorization is not specific enough and will not lead to prognostic or treatment information. We objectified the classification differences between these categories. METHODS: A total of 114 children admitted to our epilepsy centre underwent a standardized clinical analysis, which yielded age at onset, duration of the epilepsy, seizure frequency, seizure type, percentage of interictal epileptiform activity on EEG (IEA), type of treatment, and full scale IQ. These variables are regarded the characteristics of the epilepsy, and used in a discriminant function analysis. RESULTS: IEA was found to be the only variable to distinguish between groups of epilepsy. SLRE could easily be distinguished significantly from IGE and CLRE, while the latter two did not differ significantly. Discriminant function analysis combined the variables into two functions, applicable to classify the children. By applying this statistical analysis method, the groups clinically classified as SLRE and IGE were mostly classified as SLRE (71.4%) and IGE (57.9%). However, CLRE appeared difficult to classify (49.2%), and most children were classified as either SLRE (19%) or IGE (31.7%). CONCLUSION: The current opinion that CLRE is 'probably symptomatic' cannot be confirmed in all cases in this study. It is most likely that the current CLRE population consists of both children with eventually SLRE, as well as yet to be described syndromes to be classified as idiopathic epilepsies. We emphasize the need for separate studies regarding children with 'probably symptomatic' (cryptogenic) localization related epilepsy, as this will maximally help children, caretakers and treating physicians to achieve the best possible outcome.

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.

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.