Ultrasound-guided initial diagnosis and follow-up of pediatric idiopathic intracranial hypertension.

BACKGROUND: Idiopathic intracranial hypertension in children often presents with non-specific symptoms found in conditions such as hydrocephalus. For definite diagnosis, invasive intracranial pressure measurement is usually required. Ultrasound (US) of the optic nerve sheath diameter provides a non-invasive method to assess intracranial pressure. Transtemporal US allows imaging of the third ventricle and thus assessment for hydrocephalus. OBJECTIVE: To investigate whether the combination of US optic nerve sheath and third ventricle diameter can be used as a screening tool in pediatric idiopathic intracranial hypertension to indicate elevated intracranial pressure and exclude hydrocephalus as an underlying pathology. Further, to analyze whether both parameters can be used to monitor treatment outcome. MATERIALS AND METHODS: We prospectively included 36 children with idiopathic intracranial hypertension and 32 controls. Using a 12-Mhz linear transducer and a 1-4-Mhz phased-array transducer, respectively, optic nerve sheath and third ventricle diameters were determined initially and during the course of treatment. RESULTS: In patients, the mean optic nerve sheath diameter was significantly larger (6.45±0.65 mm, controls: 4.96±0.32 mm) and the mean third ventricle diameter (1.69±0.65 mm, controls: 2.99±1.31 mm) was significantly smaller compared to the control group, P<0.001. Optimal cut-off values were 5.55 mm for the optic nerve sheath and 1.83 mm for the third ventricle diameter. CONCLUSIONS: The combined use of US optic nerve sheath and third ventricle diameter is an ideal non-invasive screening tool in pediatric idiopathic intracranial hypertension to indicate elevated intracranial pressure while ruling out hydrocephalus. Treatment can effectively be monitored by repeated US, which also reliably indicates relapse.

Influence of sex and disease etiology on the development of papilledema and optic nerve sheath extension in the setting of intracranial pressure elevation in children.

Introduction: Dilatation of the optic nerve sheath diameter and swelling of the optic disc are known phenomena associated with intracranial pressure elevation. Research question: Do sex and disease etiology have an impact on the development of optic disc elevation and optic nerve sheath extension in children in the setting of ICP elevation? Fundoscopic papilledema and point-of-care-ultrasound techniques-optic nerve sheath diameter (US-ONSD) and optic disc elevation (US-ODE) - were compared in this regard. Material and methods: 72 children were included in this prospective study; 50 with proven pathology (e.g. pseudotumor cerebri, tumor), 22 with pathology excluded. Bilateral US-ONSD and US-ODE were quantified by US using a 12-MHz-linear-array-transducer. This was compared with fundoscopic optic disc findings and in 28 patients with invasive ICP values, stratified for sex and etiology. Results: In patients with proven disease, significant more girls (69%) had fundoscopic papilledema compared with boys (37%, p < 0.05). Girls had also larger US-ODE values (0.86 ± 0.36 mm vs. 0.65 ± 0.40 mm in boys). 80% of tumor patients had initial papilledema (100% girls, 79% boys), compared with 50% in pseudotumor cerebri (PTC) (83% girls, 30% boys). US-ONSD had no sex- and no etiology-specificity. Discussion and conclusion: Presence of papilledema appears to be influenced by sex and etiology, whereas US-ONSD is not. Girls seem more likely to develop papilledema under similar conditions. Male sex and PTC appear as risk factors for being undetected by fundoscopic findings. US-ONSD and US-ODE seem useful tools to identify pathologies with potentially increased ICP requiring treatment in children regardless of sex and etiology.

Transorbital point-of-care ultrasound versus fundoscopic papilledema to support treatment indication for potentially elevated intracranial pressure in children.

PURPOSE: To compare transorbital point-of-care ultrasound techniques -optic nerve sheath diameter (US-ONSD) and optic disc elevation (US-ODE)- with fundoscopic papilledema to detect potentially raised intracranial pressure (ICP) with treatment indication in children. METHODS: In a prospective study, 72 symptomatic children were included, 50 with later proven disease associated with raised ICP (e.g. pseudotumour cerebri, brain tumour, hydrocephalus) and 22 with pathology excluded. Bilateral US-ONSD and US-ODE were quantified by US using a 12-MHz-linear-array transducer. This was compared to fundoscopic optic disc findings (existence of papilledema) and, in 28 cases, invasively measured ICP values. RESULTS: The sensitivity and specificity of a cut-off value of US-ONSD (5.73 mm) to detect treatment indication for diseases associated with increased ICP was 92% and 86.4%, respectively, compared to US-ODE (0.43 mm) with sensitivity: 72%, specificity: 77.3%. Fundoscopic papilledema had a sensitivity of 46% and a specificity of 100% in this context. Repeatability and observer-reliability of US-ODE examination was eminent (Cronbach's α = 0.978-0.989). Papilledema was detected fundoscopically only when US-ODE was > 0.67 mm; a US-ODE > 0.43 mm had a positive predictive value of 90% for potentially increased ICP. CONCLUSION: In our cohort, transorbital point-of-care US-ONSD and US-ODE detected potentially elevated ICP requiring treatment in children more reliably than fundoscopy. US-ONSD and US-ODE indicated the decrease in ICP after treatment earlier and more reliably than fundoscopy. The established cut-off values for US-ONSD and US-ODE and a newly developed US-based grading of ODE can be used as an ideal first-line screening tool to detect or exclude conditions with potentially elevated ICP in children.

Intracranial Pressure, Autoregulation, and Cerebral Perfusion in Infants With Nonsyndromic Craniosynostosis at the Time of Surgical Correction.

BACKGROUND AND OBJECTIVE: Although an increased intracranial pressure (ICP) is a known problem in children with syndromic craniosynostosis, it remains unclear whether elevated ICP and impaired cerebral perfusion exist in nonsyndromic synostosis and should be defined as targets of primary treatment. This study aimed to investigate ICP, cerebral autoregulation (CAR), and brain perfusion in infants with nonsyndromic craniosynostosis at first surgical intervention. METHODS: Forty-three infants were prospectively included. The patients underwent perioperative measurement of mean arterial blood pressure, ICP, and brain perfusion before and after cranial vault decompression. Physiological parameters with possible influences on ICP and autoregulation/brain perfusion were standardized for age. CAR was assessed by the pressure reactivity index (PRx), calculated using the mean arterial blood pressure and ICP. RESULTS: Biparietal decompression was performed in 29 infants with sagittal synostosis (mean age, 6.1 ± 1.3 months). Fronto-orbital advancement was performed in 10 and 4 infants with metopic and unilateral coronal synostosis, respectively (mean age, 11.6 ± 2.1 months). An elevated ICP (>15 mm Hg) was found in 20 of 26 sagittal (mean, 21.7 ± 4.4 mm Hg), 2 of 8 metopic (mean, 17.1 ± 0.4 mm Hg), and 2 of 4 unilateral coronal synostosis cases (mean, 18.9 ± 2.5 mm Hg). Initial ICP was higher in sagittal synostosis than in metopic/coronal synostosis (P = .002). The postdecompression ICP was significantly reduced in sagittal synostosis cases (P < .001). The relative cerebral blood flow and blood flow velocity significantly increased after decompression. Impaired CAR was found in infants with a mean ICP >12 mm Hg (PRx, 0.26 ± 0.32), as compared with those with a mean ICP ≤ 12 mm Hg (PRx, -0.37 ± 0.07, P = .001). CONCLUSION: Contrary to common belief, an elevated ICP and significantly impaired CAR can exist early in single suture synostosis, particularly sagittal synostosis. Because an influence of raised ICP on long-term cognitive development is known in other diseases, we suggest that preventing increased ICP during the phase of maximal brain development may be a goal for decompressive surgery, at least for sagittal synostosis cases.

Non-Invasive Quantitative Approximation of Intracranial Pressure in Pediatric Idiopathic Intracranial Hypertension Based on Point-of-Care Ultrasound of the Optic Nerve Sheath Diameter.

BACKGROUND: To investigate whether ultrasound-based optic nerve sheath diameter (US-ONSD) is a reliable measure to follow up children with idiopathic intracranial hypertension (IIH). In addition, to analyze the inter- and intra-individual relationships between US-ONSD and intracranial pressure (ICP), and to investigate whether an individualized mathematical regression equation obtained from two paired US-ONSD/ICP values can be used to approximate ICP from US-ONSD values. METHODS: 159 US examinations and 53 invasive ICP measures via lumbar puncture (LP) were performed in 28 children with IIH. US-ONSD was measured using a 12 Mhz linear transducer and compared to ICP values. In 15 children, a minimum of 2 paired US-ONSD/ICP determinations were performed, and repeated-measures correlation (rmcorr) and intra-individual correlations were analyzed. RESULTS: The cohort correlation between US-ONSD and ICP was moderate (r = 0.504, p < 0.01). Rmcorr (r = 0.91, p < 0.01) and intra-individual correlations (r = 0.956-1) of US-ONSD and ICP were excellent. A mathematical regression equation can be calculated from two paired US-ONSD/ICP values and applied to the individual patient to approximate ICP from US-ONSD. CONCLUSIONS: Related to excellent intra-individual correlations between US-ONSD and ICP, an individualized regression formula, created from two pairs of US-ONSD/ICP values, may be used to directly approximate ICP based on US-ONSD values. Hence, US-ONSD may become a non-invasive and reliable measure to control treatment efficacy in pediatric IIH.

Comparison of B-Scan Ultrasound and MRI-Based Optic Nerve Sheath Diameter (ONSD) Measurements in Children.

BACKGROUND: Qualitative, noninvasive assessment of intracranial pressure is of eminent importance in pediatric patients in many clinical situations and can reliably be performed using transorbital ultrasonographic measurement of the optic nerve sheath diameter (ONSD). MRI-based determination of ONSD can serve as an alternative if ultrasound (US) is not possible or available for various reasons, for example, in small, incompliant children. This study investigates repeatability and observer reliability of US ONSD and correlation and bias of US- versus MRI-based ONSD assessment in pediatric patients. METHODS: One hundred fifty children diagnosed with tumor (n = 40), hydrocephalus (n = 42), and other cranial pathologies (n = 68) were included. Bilateral ONSD was quantified by US using a 12-MHz linear array transducer. This was compared with ONSD measured in simultaneously acquired (≤24 h) T2-weighted MRI scans of the orbit. RESULTS: Repeatability of individual US values and intraobserver ONSD was outstanding (Cronbach's α = 0.984 and 0.996, respectively). Overall mean values for ONSD were 5.8 ± 0.88 mm and 5.7 ± 0.89 mm for US and MRI, respectively. Correlation between US and MRI-based ONSD was strong (r = 0.976, P < 0.01). Bland and Altman analysis showed a mean bias of 0.078 mm. A repeated-measures correlation (rrm) in 9 patients showed an excellent value (rrm = 0.94, P < 0.01). CONCLUSIONS: Repeatability and reliability of US ONSD determination is excellent. In case US ONSD assessment is not possible or available, MRI scans can serve as an excellent alternative. The difference of US and MRI ONSD is minimal and insignificant, and thus, both techniques can complement each other.

Ventriculomegaly in children: nocturnal ICP dynamics identify pressure-compensated but active paediatric hydrocephalus.

INTRODUCTION: Paediatric ventriculomegaly without obvious signs or symptoms of raised intracranial pressure (ICP) is often interpreted as resulting from either relative brain atrophy, arrested "benign" hydrocephalus, or "successful" endoscopic third ventriculostomy (ETV). We hypothesise that the typical ICP "signature" found in symptomatic hydrocephalus can be present in asymptomatic or oligosymptomatic children, indicating pressure-compensated, but active hydrocephalus. METHODS: A total of 37 children fulfilling the mentioned criteria underwent computerised ICP overnight monitoring (ONM). Fifteen children had previous hydrocephalus treatment. ICP was analysed for nocturnal dynamics of ICP, ICP amplitudes (AMP), magnitude of slow waves (SLOW), and ICP/AMP correlation index RAP. Depending on the ONM results, children were either treated or observed. The ventricular width was determined at the time of ONM and at 1-year follow-up. RESULTS: The recordings of 14 children (group A) were considered normal. In the 23 children with pathologic recordings (group B), all ICP values and dependent variables (AMP, SLOW) were significantly higher, except for RAP. In group B, 12 of 15 children had received a pre-treatment and 11 of 22 without previous treatment. All group B children received treatment for hydrocephalus and showed a significant reduction of frontal-occipital horn ratio at 1 year. During follow-up, a positive neurological development was seen in 74% of children of group A and 100% of group B. CONCLUSION: Ventriculomegaly in the absence of signs and symptoms of raised ICP was associated in 62% of cases to pathological ICP dynamics. In 80% of pre-treated cases, ETV or shunt failure was found. Treating children with abnormal ICP dynamics resulted in an outcome at least as favourable as in the group with normal ICP dynamics. Thus, asymptomatic ventriculomegaly in children deserves further investigation and, if associated with abnormal ICP dynamics, should be treated in order to provide a normalised intracranial physiology as basis for best possible long-term outcome.

Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome.

PURPOSE: Neurofibromatosis type 1 (NF1) syndrome is a common rare/orphan disease that manifests itself early in the paediatric age. It imposes a considerable burden upon patients as well as on caregivers. Decisions regarding optimal care often rely on several medical instances working together as a team. METHODS: The authors reviewed the literature and supplied a description of their own clinical work at the NF1 centres. RESULTS: The experience of a multidisciplinary teamwork of three NF centres was summarized in order to enhance awareness for possible multidisciplinary ways of delivery of health and health-related aspects of care to NF1 patients. Both population-focused research centres and family-focused centres were reviewed. CONCLUSIONS: Chronic rare diseases that start in the paediatric age mandate long-term follow-up most often by several disciplines. NF1 syndrome is an example of a multidisciplinary centre in order to enhance the quality of care.

Surgical management of peripheral nerve sheath tumours in children, with special consideration of neurofibromatoses.

INTRODUCTION: Peripheral nerve sheath tumours in children are a rare and heterogeneous group, consisting mostly of benign tumours as well as malignant neoplasms. Especially in the paediatric population, diagnostics and indication for therapy pose relevant challenges for neurosurgeons and paediatric neurologists alike. Most paediatric cases that need surgical intervention are associated to neurofibromatosis type 1 (NF1). METHODS: We retrospectively reviewed all paediatric cases treated at the Department of Neurosurgery in Tübingen between 2006 and 2017 for peripheral nerve sheath tumours. We analysed clinical signs, symptoms, histology, association to an underlying phacomatosis and sensory/motor function. RESULTS: Of the 82 identified patients, the majority had NF1 (76.8%). Nine children bore a sporadic tumour without underlying phacomatosis (11%), 8 had NF2 (9.8%) and 2 schwannomatosis (2.4%), A total of 168 surgical interventions were performed, and 206 tumours were removed. Indication for surgery was in most instances significant tumour growth (45.2%) followed by pain (33.9%). New deficits led to surgery in 12.5% of interventions; malignancy was suspected in 8.3%. Histopathology revealed mostly neurofibromas (82.5%), divided into cutaneous neurofibromas (10.7%), infiltrating plexiform neurofibromas (25.7%) and peripheral nerve-born neurofibromas (46.1%). 12.1% of tumours were schwannomas, 2.9% MPNST, 1.5% ganglioneuroma (n = 3) and 1 hybrid-neurofibroma and perineurinoma each. Leading symptoms, such as pain and motor and sensory deficits, improved after 125/166 interventions (74.4%), remained unchanged following 39 interventions (23.2%) and worsened in 4 occasions (2.4%). CONCLUSION: Surgery is safe and effective for (neurofibromatosis associated) peripheral nerve sheath tumours in the paediatric population; however, management needs a multidisciplinary setting. We propose early surgical resection in paediatric patients with peripheral nerve sheath tumours with significant growth, or pain, or motor deficit, or suspected malignancy.

Changes of third ventricle diameter (TVD) mirror changes of the entire ventricular system at acute shunt failure and after shunt revision in pediatric hydrocephalus.

PURPOSE: In hydrocephalic children, regular investigations of the ventricles are important for initial diagnosis and after initial treatment. Our recent study showed that changes of the third ventricle diameter (TVD) reliably reflect changes of the entire ventricular system at diagnosis and following initial therapy. This study compares changes of TVD with changes of ventricle indices at acute shunt failure and after shunt revision in hydrocephalic children. METHODS: A total of 117 children with hydrocephalus were included in this study. MRI/CT images of 30 children were evaluated at the time of acute shunt dysfunction and after subsequent shunt revision. Measurements included axial TVD and three standard measures of lateral ventricles (Evans index, frontal occipital horn ratio (FOHR), and cella media index (CMI)). In 97 children, correlation between axial and coronal/diagonal TVD was evaluated at the time of initial diagnosis of hydrocephalus. RESULTS: At acute shunt dysfunction, the best linear correlation was found between TVD and CMI (r = 0.702, p < 0.01). Changes of TVD correlated very well to changes of FOHR (r = 0.74, p < 0.01) after shunt revision. The correlation between axial and coronal/diagonal TVD was outstanding (r = 0.995, p < 0.01). CONCLUSION: TVD showed a significant correlation with all lateral ventricle indices at acute shunt dysfunction and after shunt revision. It is therefore not only an excellent mirror of ventricular changes at initial hydrocephalus diagnosis and therapy, but it can also reliably reflect changes of the ventricular system in relevant clinical situations associated with the lifelong treatment of pediatric hydrocephalus.

The relation of optic nerve sheath diameter (ONSD) and intracranial pressure (ICP) in pediatric neurosurgery practice - Part I: Correlations, age-dependency and cut-off values.

PURPOSE: It is assumed that the width of the optic nerve sheath diameter (ONSD) is dependent on intracranial pressure (ICP) and pulsatility and thus constitutes a non-invasively accessible "window" for qualitative assessment of ICP. Data on the correlation to invasively measured ICP in children are scarce and have often been obtained from sedated patients in intensive care unit (ICU) or intraoperatively. We report on a mixed cohort of pediatric neurosurgical patients, ICP and ONSD measurements were available from both sedated and awake children, only a minority from ICU patients. METHODS: Seventy-two children were investigated. Ultrasound ONSD determination was performed immediately prior to invasive ICP measurement and the mean binocular ONSD was compared with ICP. The investigations were performed in children awake, sedated, or under general anesthesia. RESULTS: In the entire patient cohort, the correlation between ONSD and ICP was good (r = 0.52, p < 0.01). Children > 1 year revealed a better correlation (r = 0.63; p < 0.01) and those ≤ 1 year did worse (r = 0.21). Infants with open fontanelle had no correlation. In the entire cohort, the best ONSD cut-off value for detecting ICP ≥ 15 and ≥ 20 mmHg was 5.28 and 5.57 mm (OR 22.5 and 7.2, AUC 0.782 and 0.733). CONCLUSION: Transorbital ultrasound measurement of ONSD is a reliable non-invasive technique to assess increased ICP in children in every clinical situation; however, the impact of age and fontanelle status needs to be considered. ONSD thresholds enable qualitative first orientation regarding ICP categories with a very satisfying diagnostic accuracy.

Value of computerized shunt infusion study in assessment of pediatric hydrocephalus shunt function-a two center cross-sectional study.

BACKGROUND: Hydrocephalus shunt malfunction can-also in children-occur insidiously without clear symptoms of raised intracranial pressure (ICP) or changes in ventricular size, imposing a diagnostic challenge. Computerized shunt infusion studies enable quantitative shunt function assessment. We report on feasibility and results of this technique in children in a two center cross-sectional study. MATERIAL AND METHODS: Shunt infusion study (SIS) is performed with two needles inserted into a pre-chamber for ICP recording and CSF infusion. After baseline ICP recording, constant rate infusion is started until a new ICP plateau (ICPpl) is reached. Dedicated software containing the shunt's resistance characteristics calculates ICP and its amplitude outflow resistance and critical shunt pressure (CSP). Overall, 203 SIS were performed in 166 children. Shunts were defined as functional if ICPpl was 5 mmHg above CSP and borderline in between. RESULTS: Forty-one shunts (20.2%) were found obstructed, 26 (12.8%) had borderline characteristics, and 136 (67%) were functional. Baseline ICP in obstructed shunts was significantly above shunt operating pressure. CSF outflow resistance (Rout) and ∆ICP plateau were significantly elevated in obstructed shunts, with cut-off thresholds of 8.07 mmHg min/ml and 11.74 mmHg respectively. Subgroup analysis showed smaller ventricles in 69% of revised cases. CONCLUSION: SIS is a feasible, reliable, and radiation-free technique for quantitative shunt assessment to rule out or prove shunt malfunction. Dedicated software containing shunt hydrodynamic characteristics is necessary and small children may need short-term sedation. Due to the clinical and inherent economic advantages, SIS should be more frequently used in pediatric neurosurgery.

The relation of optic nerve sheath diameter (ONSD) and intracranial pressure (ICP) in pediatric neurosurgery practice - Part II: Influence of wakefulness, method of ICP measurement, intra-individual ONSD-ICP correlation and changes after therapy.

PURPOSE: Previous studies correlating ultrasound (US)-based optic nerve sheath diameter (ONSD) and intracranial pressure (ICP) in children were performed under general anesthesia. To apply ONSD in daily clinical routine, it is necessary to investigate patients awake. It is furthermore essential for ICP-assessment with ONSD to know if ONSD-ICP correlation varies within individuals. In this study, we report on the influence of wakefulness, method of ICP measurement, intraindividual correlations, and dynamic changes of ONSD and ICP after ICP decreasing therapy. METHODS: The overall study included 72 children with a median age of 5.2 years. US ONSD determination was performed immediately prior to invasive ICP measurement, and the mean binocular ONSD was compared to ICP. In 10 children, a minimum of 3 ONSD/ICP measurements were performed to investigate a correlation within subjects. In 30 children, measurements were performed before and after therapy. RESULTS: Twenty-eight children were investigated awake with an excellent correlation of ONSD and ICP (r = 0.802, p < 0.01). In 10 children, at least three simultaneous ONSD and ICP measurements were performed. The intraindividual correlations were excellent (r = 0.795-1.0) however with strongly differing individual regression curves. The overall correlation within subjects was strong (r = 0.78, p < 0.01). After ICP decreasing therapy, all ONSD values decreased significantly (p < 0.01); however, there was no correlation between ∆ICP and ∆ONSD. CONCLUSION: Awake investigation does not impair the correlation between ONSD and ICP. Even if there is a good overall ONSD-ICP correlation, every individual has its own distinctive and precise correlation line. The relationship between ONSD and ICP is furthermore not uniform between individuals. Strong ICP decreases can lead to smaller ONSD changes and vice versa. This should be kept in mind when using this technique in the clinical daily routine.

Changes of third ventricle diameter (TVD) mirror changes of the entire ventricular system after initial therapy and during follow-up in pediatric hydrocephalus.

PURPOSE: Regular measurement of ventricular size is important in children with hydrocephalus. After closure of the fontanelle this is currently addressed by repetitive cranial MRI or CT imaging, coming along with risks of anaesthesia or radiation. As the third ventricle is accessible via the temporal bone window using ultrasound, determination of its diameter might be an easy and radiation-free alternative to assess the ventricular system. An essential precondition is that changes of the third ventricle diameter (TVD) mirror changes of the whole ventricular system. This study compares changes of TVD with changes of ventricular indices before and after initial treatment of hydrocephalus and during the following evolution. METHODS: MRT/CT images from 117 children with hydrocephalus were evaluated at time of diagnosis, after initial therapy and during follow-up with functional shunts. Measurements included axial TVD and three standard linear measures of the lateral ventricles (Evans Index - EI, fronto-occipital horn ratio - FOHR Index, and Cella Media Index - CMI). Furthermore, a correlation within subjects was calculated in 8 patients over the entire available follow-up. RESULTS: Relative changes of TVD were significantly correlated to relative changes of all ventricular indices (r = 0.48, r = 0.68 and r = 0.701 for EI, FOHR and CMI, respectively, p < 0.01). The correlation within subjects was outstanding for EI (r = 0.988), FOHR (r = 0.99) and CMI (r = 0.99). CONCLUSION: TVD showed a significant correlation with all three linear indices at the time of diagnosis and during follow-up changes independently of age, aetiology and ventricular width. TVD and its changes are therefore a reliable surrogate of changes in ventricular size in pediatric hydrocephalus undergoing treatment.

Cerebellar lesions in pediatric abusive head trauma.

Pediatric abusive head trauma (AHT) or non accidental head trauma (NAHT) is a major cause of death from trauma in children under 2 years of age. Main etiological factor for non accidental head trauma is shaking a baby, causing brain injury by rotational head acceleration and deceleration. The consequent brain damage as shown by magnetic resonance imaging (MRI) is subdural haemorrhage and to a lesser extent parenchymal injuries of variable severity. Involvement of the cerebellum has very rarely been described. We report the clinical history and the development of cerebral magnetic resonance imaging findings in two children with serious brain injury following probable shaking who presented the typical "triad" with subdural haematoma, retinal haemorrhage and encephalopathy. We want to draw attention to cerebellar involvement characterized by cortico-subcortical signal alterations most prominent on T2w images following diffusion changes during the acute period. We discuss cerebellar involvement as a sign of higher severity of AHT which is probably underrecognized.

Attention Deficit Predicts Intellectual Functioning in Children with Neurofibromatosis Type 1.

AIMS: Attention deficit hyperactivity disorder (ADHD) is one of the most frequent neurocognitive impairments in neurofibromatosis type 1 (NF1) and a well-known risk factor for intellectual dysfunction in general. Since NF1 is per se associated with intellectual difficulties, this comorbidity may be crucial for the cognitive development of affected patients. In our study, we investigated if attention deficits are associated with intellectual functioning in NF1 and if children with NF1 plus ADHD differ in their intellectual and attention profiles from children affected by NF1-only or ADHD only. METHODS: 111 children aged between 6 and 12 years (53 NF1 plus ADHD, 28 NF1-only, 30 ADHD-only) performed the German version of the intelligence test WISC-IV and a continuous performance test (T.O.V.A.) to assess attention functions. Parents completed questionnaires about everyday attention and executive functions (Conners 3®, BRIEF). RESULTS: Children with NF1 plus ADHD showed significantly lower intelligence test scores (full-scale IQ: 89.39 [1.40]) than patients with NF1-only (full-scale IQ: 101.14 [1.98]; p < .001), and intellectual functioning correlated significantly with attention performance in NF1 (p < .001). As compared to NF1-only, attention, and executive functioning were impaired on several dimensions (T.O.V.A., Conners 3® and BRIEF) in NF1 plus ADHD. ADHD-only was associated with significantly higher problem scores regarding hyperactivity/impulsivity and inattention (Conners 3®). NF1-only was associated with inattentiveness when compared to the normative sample of the T.O.V.A. CONCLUSION: NF1 is associated with variable attention problems. Severe attention deficits appear to be a risk factor for intellectual dysfunction in NF1, more than NF1 without attention deficit. NF1 plus ADHD presents a specific cognitive profile, which differs from that of NF1 and from neurotypical ADHD.

Motor dysfunction in NF1: Mediated by attention deficit or inherent to the disorder?

AIM: Attention deficit and compromised motor skills are both prevalent in Neurofibromatosis type 1 (NF1), but the relationship is unclear. We investigated motor function in children with NF1 and in children with Attention Deficit/Hyperactivity Disorder (ADHD), and explored if, in patients with NF1, attention deficit influences motor performance. METHODS: Motor performance was measured using the Movement Assessment Battery for Children (M-ABC) in 71 children (26 with NF1 plus ADHD, 14 with NF1 without ADHD, and 31 with ADHD without NF1) aged 6-12 years. RESULTS: There was a significant effect of group on motor performance. Both NF1 groups scored below children with ADHD without NF1. Attention performance mediated motor performance in children with ADHD without NF1, but not in children with NF1. CONCLUSIONS: Motor function is not mediated by attention performance in children with NF1. While in ADHD, attention deficit influences motor performance, motor problems in NF1 seem to be independent from attention deficit. This argues for different pathomechanisms in these two groups of developmental disorders.

Destructive subependymal cysts following ventriculitis-pathomechanisms and treatment.

Ventriculitis may complicate neurosurgical procedures, for example, due to shunt or external ventricular drainage infection. Clearance of the infection with subsequent intravenous antibiotic therapy and shunt reinsertion, if necessary, are the standard treatment procedures with a high rate of success. Here, we report on a protracted complication, the development of destructive subependymal cysts, illustrate its treatment and discuss the pathomechanisms. The 2-year-and-9-month-old girl was admitted 5 weeks after a shunt revision with symptoms of shunt infection. Ventriculitis caused by Streptococcus salivarius (S. salivarius) was diagnosed and intravenous antibiotic treatment was performed. A new shunt system was implanted after clearance of infection and the girl did not show clinical signs of infection thereafter. A routine follow-up magnetic resonance imaging (MRI) revealed progressive and space-occupying multifocal subependymal cysts with partial destruction of the corpus callosum including compression of the ventricular system. Endoscopic broad-based laser fenestration of all cysts resulted in sustained regression of cavity formation. The cognitive development of the girl assessed 2 years afterward was completely normal. We conclude that routine follow-up MRI investigations are recommended 6 months after successful treatment of ventriculitis to detect protracted postinflammatory destructive subependymal cyst formations. Endoscopic broad-based laser-assisted cyst fenestration can stop progression and lead to regression of postinfectious subependymal cysts.

Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.

Interstitial deletions of chromosome bands 9q34.11-q34.13 are rare. We report on a 16-year-old female patient with severe intellectual disability, congenital hydrocephalus, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and facial dysmorphic signs. Array analysis revealed a 3.7 Mb interstitial deletion in 9q34.11-q34.13. The deletion harbors more than 60 genes, including SPTAN1, DYT1/TOR1A, ABL1, ASS1, LAMC3, POMT1, DOLK, and GLE1, mutations in which have previously been associated with monogenic disorders. This is the first patient with a deletion of this size and position in 9q34.11-q34.13. Reports of additional patients with aberrations in this region will be needed to establish karyotype-phenotype correlations and to gain information on the contribution of individual genes for the clinical manifestations.