Still an Unsolved Question: The Place of Cranial Magnetic Resonance Imaging in Acute Acquired Concomitant Esotropia.

PURPOSE: The aim of this study was to collect further data to estimate the risk of relevant intracranial pathology and thereby better assess the need for cranial imaging in children with acute acquired comitant esotropia (AACE). To date, there is still not enough literature on this topic to enable a consensus on the diagnostic algorithm. METHODS: We analyzed data from patients with convergent strabismus who received cranial imaging via magnetic resonance imaging (MRI). Twenty-one patients received a cranial MRI for the diagnostic evaluation of AACE. The age range was from 2 to 12 years, and the mean age at the time of diagnosis was 5.5 years. Of these patients, only one exhibited insignificant MRI findings, with no therapeutic consequences. CONCLUSIONS: Our data add further evidence that AACE without neurological findings or other ophthalmologic anomalies might not be an indication for cranial MRI as a diagnostic screening tool.

[The Cognitive, Language and Motor Development of Prenatal Methamphetamine- and Opioid-exposed Children]. / Die kognitive, sprachliche und motorische Entwicklung pränatal methamphetamin- und opioid-exponierter Kinder.

OBJECTIVE: The consumption of illegal substances during pregnancy is an increasing social and medical issue. Main substances of prenatal drug exposure are beside tehtrahydrocannabinol (THC), opioids and methamphetamine. The effect of these substances on the long-term development of children remains uncertain. METHODS: Since 2012 newborn infants born at the university hospital of children at Leipzig which were prenatal exposed to drugs were followed long-term at the out-patient clinic for child protection. For 42 children with prenatal opioid or methamphetamine exposure the developmentent was analysed using the Bayley Scales (BSID III) at the age of 2-3 years. The children were compared with 84 unexposed control children. One case matched to 2 controls, adapted by age, gender, gestational age and birth weight. RESULTS: Motoric development between prenatal methylamphetamine, opioid exposed children and the control group showed no significant difference. Methylamphetamine exposed children (n=23) At 2 exposure show significantly lower scores in cognition and language (79,1 compared 95,9 of the control group), opioid exposed children have a slight cognitive deficits with a medium score of 91,7 (n=19). 56% of the methamphetamine group were developmentally retarded at the measurement date. Additionally, children had significant lower Bayley Scores which had single parent and/ or low educational and professional qualifications of their caregiver. Both substances increased the risk of postnatal complications to 46-53% despite of similar gestational ages in all groups. CONCLUSION: Children with prenatal methamphetamine or opioid exposure seem to have cognition and language deficits at 2 and 3 years of age. Methamphetamine might have a higher negative effect than opioids. The psychosocial risk factors associated with parental drug abuse are important for achieving age-appropriate development.

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.

BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem disease with prominent neurologic manifestations such as epilepsy, cognitive impairment and autism spectrum disorder. mTOR inhibitors have successfully been used to treat TSC-related manifestations in older children and adults. However, data on their safety and efficacy in infants and young children are scarce. The objective of this study is to assess the utility and safety of mTOR inhibitor treatment in TSC patients under the age of 2 years. RESULTS: A total of 17 children (median age at study inclusion 2.4 years, range 0-6; 12 males, 5 females) with TSC who received early mTOR inhibitor therapy were studied. mTOR inhibitor treatment was started at a median age of 5 months (range 0-19 months). Reasons for initiation of treatment were cardiac rhabdomyomas (6 cases), subependymal giant cell astrocytomas (SEGA, 5 cases), combination of cardiac rhabdomyomas and SEGA (1 case), refractory epilepsy (4 cases) and disabling congenital focal lymphedema (1 case). In all cases everolimus was used. Everolimus therapy was overall well tolerated. Adverse events were classified according to the Common Terminology Criteria of Adverse Events (CTCAE, Version 5.0). Grade 1-2 adverse events occurred in 12 patients and included mild transient stomatitis (2 cases), worsening of infantile acne (1 case), increases of serum cholesterol and triglycerides (4 cases), changes in serum phosphate levels (2 cases), increase of cholinesterase (2 cases), transient neutropenia (2 cases), transient anemia (1 case), transient lymphopenia (1 case) and recurrent infections (7 cases). No grade 3-4 adverse events were reported. Treatment is currently continued in 13/17 patients. Benefits were reported in 14/17 patients and included decrease of cardiac rhabdomyoma size and improvement of arrhythmia, decrease of SEGA size, reduction of seizure frequency and regression of congenital focal lymphedema. Despite everolimus therapy, two patients treated for intractable epilepsy are still experiencing seizures and another one treated for SEGA showed no volume reduction. CONCLUSION: This retrospective multicenter study demonstrates that mTOR inhibitor treatment with everolimus is safe in TSC patients under the age of 2 years and shows beneficial effects on cardiac manifestations, SEGA size and early epilepsy.

Sweaty feet in adolescents-Early use of botulinum type A toxin in juvenile plantar hyperhidrosis.

BACKGROUND/OBJECTIVES: Plantar hyperhidrosis can have severe social effects on children and adolescents. Therapeutic options include antiperspirants and surgical interventions (eg, sympathectomy). Botulinum type A toxin is approved for axillary hyperhidrosis in adults only. The aim of the study was the determination of effect and safety of botulinum type A toxin in plantar hyperhidrosis in juvenile patients. METHODS: Children and adolescents with idiopathic focal plantar hyperhidrosis were treated with 50-100 U of botulinum type A toxin per sole. Local anesthesia was provided using topical eutectic mixture of local anesthetics cream and ice, in combination with midazolam as an anxiolytic. RESULTS: Fifteen patients (aged 12-17) were included in the study. Best results were achieved with a dose of 75-100 U of botulinum type A toxin per sole. Two patients did not benefit from the therapy, and 11 (73%) were satisfied with the results. Nine patients (60%) experienced pain at the injection site for a maximum duration of 3 days. One patient reported transient focal weakness for 4 weeks. CONCLUSION: Botulinum type A toxin seems to be a safe secondary treatment option for plantar hyperhidrosis in adolescents aged 12 and older. A dose of 75-100 U per sole resulted in a good therapeutic effect of variable duration in most patients. There were no severe side effects.

[Methamphetamine Consumption During Pregnancy and its Effects on Neonates]. / Methamphetaminkonsum während der Schwangerschaft und dessen Auswirkungen auf das Neugeborene.

OBJECTIVE: Methamphetamine (MA) has become one of the most commonly used illegal drugs during pregnancy. We sought to determine how MA abuse modifies pregnancy outcomes and the health of the newborn infants. Patients 102 newborns from mothers with antenatal MA consumption were admitted to the University Hospital Leipzig from 2004-2015. METHODS: The effects of MA abuse on pregnancy outcomes and neonates were researched in a retrospective controlled study. We analysed the date of pregnancy detection, number of antenatal preventive examinations, body measurements of the neonates, duration of hospitalization, rate of preterm infants, congenital malformations and symptoms of neonatal abstinence syndrome. RESULTS: The majority of pregnancies of MA abusing women were diagnosed during the 2. trimester and they had a median of 4 prenatal care visits. The group of MA exposed neonates includes twice as many preterm neonates as the control group (MA:20,6%; CG:10,7%). The consumption was associated with intrauterine growth restriction, an increased incidence of poor cardio respiratory adaptation, cardiac defects and a floppy muscle tone. The median time of hospitalization was 10d as compared to a control group (CG:5d). Special care was needed in 44% of the neonates (CG:0,98%). The median age of primiparous women was 22.5 yr (CG:30 yr), 4.9% were married (CG:38%). 57 of 102 women were unemployed. CONCLUSION: Because of the adverse effects of perinatal MA abuse a multidisciplinary team is necessary to detect the consumption, to alleviate side effects and to provide efficient medical care for the newborns. Psychological and social support for the families are also important.

How do Parents Perceive the Initial Medical Consultation on their Child's Developmental Disorder?

BACKGROUND: A developmental disorder of a child has a major impact on the affected families' lives. However, data about the parents' perception of the revealing of the diagnosis is scarce. PATIENTS AND METHODS: Parents of children with developmental disorder treated as outpatients in a university hospital were interviewed about the initial medical consultation concerning the diagnosis of their child. RESULTS: Parents of 210 children agreed to take part in the study. 35/210 (17%) had to be excluded from the study as they were not able to remember the initial medical consultation, or claimed there was either no initial medical consultation or they did not attend it. The diagnosis of developmental disorder was made in median 4 months (Q25/Q75: 0/12; min/max: 0/63) after the parents had noticed the first symptoms. According to the parents, options to support the development of the child were the most frequently addressed topic in the initial medical consultation (119/175, 68%). Some parents wished more empathy (19/175, 11%), and less medical terminology (12/175, 7%). 114/175 (65%) of parents rated the initial medical consultation as "very good" or "good". After their initial medical consultation, 66/175 (38%) of the parents had open questions mainly concerning the prognosis of the disease. Sources of information that were used after the consultation were most often the treating physician (150/175, 86%) and the internet (133/175, 76%). CONCLUSION: Generally, parents perceive the initial medical consultation on the developmental disorder of their child well. Nevertheless, many parents state that they had unanswered questions after the consultation. The internet is one of the main sources parents use to answer those questions.

[Interdisciplinary Concepts of Paediatrics and Clinical Pharmacy to Optimise Anticonvulsant Treatment]. / Interdisziplinäre Konzepte von Pädiatrie und Klinischer Pharmazie zur Optimierung der Antikonvulsivatherapie.

Expertise in a variety of fields is required for the diagnostic process of epilepsies in children and adolescents as well as for their treatment with anticonvulsants. Patients benefit in the process from the cooperation of different health care professionals. It is of critical importance for risks to be minimised and for the efficacy shown in controlled clinical trials to be maintained in routine conditions. In the first instance, drug prescription procedures, including the choice of anticonvulsants and combinations of drugs and dosing, have to be considered. The administration of drugs has, of course, also to be taken into account. Only if patients are given their anticonvulsants appropriately, the intended success of the therapy can be accomplished. Strategies aimed at improving drug administration have to be directed not only at nurses but also at parents, children and adolescents themselves, as well as caregivers in schools and children's day-care facilities. By providing theoretical teaching, practical training, and routinely including pharmacists in the therapeutic team, drug-related problems that may result in limited effectiveness and increased risks are prevented. As a result, drug (therapy) safety is not only qualitatively improved, but the degree of participation and quality of life of patients and families is improved as well.

Knowledge and attitudes about epilepsy: A survey of high school students in Germany.

PURPOSE: Attitudes concerning epilepsy improved over the last few decades, but children with epilepsy still suffer from stigmatisation. Data about unaffected children's knowledge of and attitudes about epilepsy is scarce. METHODS: We developed a questionnaire regarding epilepsy for high school students attending 8th-10th grade. The survey was performed from October 2015 to March 2016 in 5 different federal states of Germany. RESULTS: 1092 students [mean age (Q25/75): 14.5 (14/15) years] participated. 542/1092 (50%) of the respondents knew that people could die from a seizure. 216/1092 (20%) thought emotional strain could cause epilepsy. Asked for measures they would perform in case of a seizure, 235/1092 (24%) participants would hold the person to the ground, and 182/1092 (19%) would put a solid object into the person's mouth. 28/1092 (3%) would not like to be friends with a person with epilepsy, and 237/1092 (22%) would not like to go on a date with a person with epilepsy. Answers of 342/1092 (31%) students of a school located nearby a specialised epilepsy centre differed in some questions. The latter students were more familiar with epilepsy and showed better knowledge concerning causes, symptoms and treatment of epilepsy. In a question about special characteristics of people with epilepsy, 63/342 (18%) [other schools: 52/750 (11%)] answered people with epilepsy were friendlier and 76/342 (22%) [other schools: 49/750 (11%)] answered they were more sociable compared to people without epilepsy. CONCLUSION: To improve knowledge and attitudes and reduce misconceptions further education seems necessary.

Seizure management by preschool teachers: A training concept focussing on practical skills.

PURPOSE: Prolonged seizures can cause severe harm and even death. For seizures lasting longer than 5min, an administration of rescue medication is therefore recommended. Caregivers such as preschool teachers should be able to administer correctly anticonvulsive rescue medication to children. METHODS: A training concept for preschool teachers on seizure management focussing on practical skills was developed. To assess the success of the training, a structured interview on attitudes relating to rescue medication administration was conducted. The number of committed errors during administration of a rectal/buccal rescue medication to dummy dolls was compared before and after training. RESULTS: 210 teachers from 115 preschools participated while all teachers from 303 preschools had been invited. The self-reported level of confidence in their own skills to administer anticonvulsive rescue medication increased from 5 to 8 on a scale from 1 to 10 (p<0.001). The number of participants who agreed to administer rescue medication rose from 195/210 (92.8%) before training to 209/210 (99.5%, p<0.001) after training for the rectal route, and from 173/210 (82.4%) to 209/210 (99.5%, p<0.001) for the buccal route. For teachers who administered rescue medication before and after training, the number of administrations without any administration errors rose from 1/195 (0.5%) to 117/195 (60.0%, p<0.001) for the rectal route, and from 13/173 (7.5%) to 95/173 (54.9%, p<0.001) for the buccal route. CONCLUSION: A training for preschool teachers boosted the level of self-confidence relating to administration of anticonvulsive rescue medication. Teachers also committed fewer errors when administering rescue medication to dummy dolls.

Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A.

Mutations in SCN2A have been associated with benign familial neonatal-infantile seizures (BFNIS) as well as infantile-onset epileptic encephalopathy, such as Ohtahara syndrome (OS). We describe a family with 3 affected individuals carrying the novel SCN2A missense variant c.1147C>G, p.Q383E affecting a residue proximal to the highly conserved selectivity filter in the P-loop of the voltage-gated sodium channel (Nav1.2). All 3 individuals presented with seizures in early infancy. However, there were striking differences in the spectrum of clinical presentations, ranging from BFNIS to OS. A change of ion selectivity of Nav1.2 is considered to be the potential pathomechanism underlying this Nav1.2 channel dysfunction. The observation of benign and severe phenotypes due to an identical mutation within one family contradicts the hypothesis of different modes of inheritance as a mandatory feature discriminating BFNIS from SCN2A encephalopathy.

Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.

Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2, mutations in KCNQ3 appear to be less common. Here, we describe a family with 6 individuals presenting with neonatal focal and generalized seizures. Genetic testing revealed a novel KCNQ3 variant, c.835G>T, cosegregating with seizures in 4 tested individuals. This variant results in a substitution of the highly conserved amino acid valine localized within the pore-forming transmembrane segment S5 (p.V279F). Functional investigations in Xenopus laevis oocytes revealed a loss of function, which supports p.V279F as a pathogenic mutation. When p.V279F was coexpressed with the wild-type (WT) Kv7.2 subunits, the resulting potassium currents were about 10-fold reduced compared to the WT Kv7.3 and Kv7.2 coexpression. Genotype-phenotype correlation shows an incomplete penetrance of p.V279F. Response to antiepileptic treatment was variable, but evaluation of treatment response remained challenging due to the self-limiting character of the disease. The identification of the pathogenic variant helped to avoid unnecessary investigations in affected family members and allowed guided therapy.

The Cerebral Surfactant System and Its Alteration in Hydrocephalic Conditions.

INTRODUCTION: Pulmonary Surfactant reduces surface tension in the terminal airways thus facilitating breathing and contributes to host's innate immunity. Surfactant Proteins (SP) A, B, C and D were recently identified as inherent proteins of the CNS. Aim of the study was to investigate cerebrospinal fluid (CSF) SP levels in hydrocephalus patients compared to normal subjects. PATIENTS AND METHODS: CSF SP A-D levels were quantified using commercially available ELISA kits in 126 patients (0-84 years, mean 39 years). 60 patients without CNS pathologies served as a control group. Hydrocephalus patients were separated in aqueductal stenosis (AQS, n = 24), acute hydrocephalus without aqueductal stenosis (acute HC w/o AQS, n = 16) and idiopathic normal pressure hydrocephalus (NPH, n = 20). Furthermore, six patients with pseudotumor cerebri were investigated. RESULTS: SP A-D are present under physiological conditions in human CSF. SP-A is elevated in diseases accompanied by ventricular enlargement (AQS, acute HC w/o AQS) in a significant manner (0.67, 1.21 vs 0.38 ng/ml in control, p<0.001). SP-C is also elevated in hydrocephalic conditions (AQS, acute HC w/o AQS; 0.87, 1.71 vs. 0.48 ng/ml in controls, p<0.001) and in Pseudotumor cerebri (1.26 vs. 0.48 ng/ml in controls, p<0.01). SP-B and SP-D did not show significant alterations. CONCLUSION: The present study confirms the presence of SPs in human CSF. There are significant changes of SP-A and SP-C levels in diseases affecting brain water circulation and elevation of intracranial pressure. Cause of the alterations, underlying regulatory mechanisms, as well as diagnostic and therapeutic consequences of cerebral SP's requires further thorough investigations.

Epilepsy in children and adolescents: Disease concepts, practical knowledge, and coping.

PROBLEM: Children suffering from epilepsy face severe difficulties in daily life. However, data about the self-assessment of children are scarce. METHODS: From October 2013 to February 2014, patients aged 6-18years suffering from epilepsy were consecutively invited (i) to take part in a structured interview and (ii) to draw a picture about their self-assessment of epilepsy. RESULTS: Eighty-four children and their parents agreed to participate: (i) 63/84 (75%) of the children named their disease correctly; contagiousness was assumed by 8/84 (10%); 81/84 (96%) knew whether they have to take medication; 36/69 (52%) of the children taking long-term medication reported the name(s) of their medication; 8/69 (12%) believed that their medication will cure their disease; 45/84 (54%) named specific precautions to prevent harm from seizures; 6/84 (7%) believed that nonadherence to safety precautions would cause new seizures; and 23/84 (27%) believed that they are worse off than healthy children. (ii) 67/84 (80%) drew a picture titled "This is how I feel when I have a seizure". Specific symptoms [17/67 (25%)] and the interaction between child and environment [12/67 (18%)] were the most common subjects. CONCLUSION: Most children with epilepsy had rather good knowledge about medication; half of the children knew specific safety precautions. The children were often able to describe their seizures well. Pictures drawn by patients can give an insight into their experiences. Teaching programs should, among others, address the fear of contagiousness of epilepsy in some children and the fact that children with epilepsy might feel disadvantaged.

Hydrocephalus in aqueductal stenosis--a retrospective outcome analysis and proposal of subtype classification.

UNLABELLED: Treatment of aqueductal stenosis (AQS) has undergone several paradigm shifts during the past decades. Currently, endoscopic ventriculostomy (ETV) is recommended as treatment of choice. Several authors have addressed the issue of variable ETV success rates depending on age and pathogenetic factors. However, success rates have usually been defined as "ETV non-failure." The aim of the study was a retrospective analysis of radiological and neurological treatment response after ETV or VP-shunting (VPS) in age-dependent subtypes of AQS. PATIENTS AND METHODS: Eighty patients (median age 12.0 years, range 0-79 years) have been treated for MRI-proven aqueductal stenosis. Neurological treatment success was defined by neurological improvement and, in childhood, head circumference. Radiological response was measured as Evan's index in follow-up MRI. Initial signs and symptoms, type of surgery, and complications were analyzed. RESULTS: Four types of AQS have been defined with distinct age ranges and symptomatology: congenital type I (n = 24), chronic progressive (tectal tumor-like) type II (n = 23), acute type III (n = 10), and adult chronic (normal-pressure hydrocephalus-like) type IV (n = 23). Retrospective analysis of neurological and radiological outcome suggested that congenital type I (<1 years of age) may be more successfully treated with VPS than with ETV (81 vs. 50 %). Treatment of chronic juvenile type II (age 2-15) by ETV 19 % compared to 57 % after VP-shunt, but similar neurological improvement (>80 %). There has been no influence of persistent ventriculomegaly in type II after ETV in contrast to VPS therapy for neurological outcome. Adult acute type III (age > 15 years) responded excellent to ETV. Chronic type IV (iNPH-like) patients (age > 21) responded neurologically in 70 % after ETV and VPS, but radiological response was low (5 %). CONCLUSION: AQS can be divided into four distinct age groups and types in regards of clinical course and symptomatology. Depending on the AQS type, ETV cannot be unequivocally recommended. Congenital type I AQS may have a better neurological outcome with VP-shunt whereas acute type III offers excellent ETV results. Chronic progressive type II still requires prospective investigation of long-term ETV outcome, especially when ventriculomegaly persists. Late chronic type IV seems to result in similar outcome after VP-shunt and ETV.

Use of complementary and alternative medicine (CAM) by parents in their children and adolescents with epilepsy - Prevelance, predictors and parents' assessment.

BACKGROUND: The use of complementary and alternative medicine (CAM) is popular. Parents of children suffering from epilepsy may also consider administering CAM to their children. Systematic data about frequency of and motivations for CAM use, however, are scarce. METHODS: In a university hospital's neuropaediatric department parents of patients aged 0-18 years suffering from epilepsy were consecutively invited to take part in a structured interview during 4 months in 2014. RESULTS: Of the invited parents, 164/165 (99%) agreed to participate. From those, 21/164 (13%) stated that they used CAM in their child. The highest independent predictive value of CAM use was the occurrence of adverse drug events (ADE) of anticonvulsants as judged by parents. Patients affected by ADE had a 5.6 higher chance of receiving CAM compared to patients without ADE. Most commonly used were homeopathy (14/21, 67%) and osteopathy (12/21, 57%). The internet was the most frequently used source of information (14/21, 67%). Of the parents, 10/21 (48%) described positive effects of CAM on seizure frequency, 12/21 (57%) on general condition of their child, and 20/21 (95%) wished to continue CAM for epilepsy therapy. From the non-users of CAM, 91/143 (66%) expressed the desire to learn more about CAM for epilepsy therapy. LIMITATIONS: Our study was performed in a university hospital in a large urban city in Eastern Germany. CAM user rates can differ in other parts of Germany and Europe, in other institutions and for chronic diseases other than epilepsy. CONCLUSION: The main reason for CAM use was the occurrence of ADE of anticonvulsants. More than half of the parents saw a benefit of CAM for their children. Almost all parents wished to continue CAM use, even those who did not see concrete positive effects.

Opsoclonus-myoclonus syndrome after adenovirus infection.

Autoimmune and paraneoplastic movement disorders are rare in childhood. Diagnosis often relies on clinical manifestations and clinicians' recognition. A 22-month-old girl at onset of opsoclonus-myoclonus syndrome (OMS) was followed for 8 years. Adenovirus (type C subtype 3) infection coincided with manifestation. Data on treatment, imaging and follow-up are provided. In the spinal fluid, elevated anti-rubella antibodies and oligoclonal bands were detected. An autoimmune process affecting mainly cerebellar neurons was revealed immunohistochemically. Moderately intense long-term immunosuppressive therapy resulted in a favorable clinical outcome. A video demonstrated severe OMS manifestations at onset, followed by nearly complete recovery after treatment. We describe the association of a parainfectious OMS and adenovirus infection; laboratory results indicate a non-specific humoral process affecting mainly cerebellar neurons. Our video documentation will aid to recognize this rare movement disorder and to initiate early treatment.

47 patients with FLNA associated periventricular nodular heterotopia.

BACKGROUND: Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported to initially present with difficult to treat seizures at variable age of onset. Psychomotor development and cognition may be normal or mildly to moderately impaired. Distinct associated extracerebral findings have been observed and may help to establish the diagnosis including patent ductus arteriosus Botalli, progressive dystrophic cardiac valve disease and aortic dissection, chronic obstructive lung disease or chronic constipation. Genotype-phenotype correlations could not yet be established. METHODS: Sanger sequencing and MLPA was performed for a large cohort of 47 patients with Filamin A associated PVNH (age range 1 to 65 years). For 34 patients more detailed clinical information was available from a structured questionnaire and medical charts on family history, development, epileptologic findings, neurological examination, cognition and associated clinical findings. Available detailed cerebral MR imaging was assessed for 20 patients. RESULTS: Thirty-nine different FLNA mutations were observed, they are mainly truncating (37/39) and distributed throughout the entire coding region. No obvious correlation between the number and extend of PVNH and the severity of the individual clinical manifestation was observed. 10 of the mutation carriers so far are without seizures at a median age of 19.7 years. 22 of 24 patients with available educational data were able to attend regular school and obtain professional education according to age. CONCLUSIONS: We report the clinical and mutation spectrum as well as MR imaging for a large cohort of 47 patients with Filamin A associated PVNH including two adult males. Our data are reassuring in regard to psychomotor and cognitive development, which is within normal range for the majority of patients. However, a concerning median diagnostic latency of 17 to 20 years was noted between seizure onset and the genetic diagnosis, intensely delaying appropriate medical surveillance for potentially life threatening cardiovascular complications as well as genetic risk assessment and counseling prior to family planning for this X-linked dominant inherited disorder with high perinatal lethality in hemizygous males.

Adult long-term health-related quality of life of congenital hydrocephalus patients.

OBJECT: Congenital hydrocephalus has a major impact on the lives of patients and their relatives, as well as their long-term neurological development and social integration. The aim of this study was to assess the self-reported health-related quality of life (HRQOL) of patients after reaching adulthood. METHODS: A total of 31 patients who required CSF shunt treatment for congenital hydrocephalus within the 1st year of life (between 1963 and 1987) agreed to undergo a structured SF-36 self-assessment. An age-matched German standard cohort was used as control. Additional parameters of surgical, social, and global neurological outcome were analyzed. The mean patient age was 35 years (range 26-51 years, 13 females and 18 males). Hydrocephalus etiologies were posthemorrhagic hydrocephalus (n = 9), postinfectious hydrocephalus (n = 5), aqueductal stenosis (n = 10), myelomeningocele (n = 2), and unknown cause (n = 5). RESULTS: The mean modified Rankin Scale score was 1.6 (range 0-4). Hydrocephalic patients achieved lower scores for the SF-36 items physical functioning (70.5 vs. 93.5, p < 0.05), physical role functioning (74.2 vs. 88.3, p < 0.05), and general health perceptions (64.5 vs. 72.3, p < 0.05). Emotional, social role functioning, and mental health items did not differ between the groups. Assessment of vitality and pain resulted in a trend to worse values. Whereas the Physical Component Summary score was lower (46.1 vs. 54.3, p < 0.05), the Mental Component Summary score was not significantly different (50.2 vs. 48.7, p = 0.3). There was neither a statistically significant difference between subgroups of different etiologies nor an association with the number of subsequent hydrocephalus-related surgeries. CONCLUSIONS: Adult HRQOL for patients with congenital hydrocephalus appears to be similar to that for healthy con with regard to mental health and social functioning aspects. Physical impairment is a predominant factor of compro quality of life.

Signs and symptoms of pediatric brain tumors and diagnostic value of preoperative EEG.

In pediatric patients, brain tumors have been estimated to be the cause for seizures in only 0.2-0.3% of cases, whereas seizures occurred in about 13% of pediatric brain tumor patients at presentation. This survey was conducted to analyze EEG findings in pediatric tumor patients over the past 14 years to evaluate the diagnostic value of preoperative EEG for diagnosis of brain tumors. Surface EEG was obtained in awake patients using the international 10- to 20-electrode placement in all pediatric patients with intracranial neoplasms between 2000 and 2013 at the University Hospital of Leipzig except for those who needed emergency operative treatment. One hundred forty-two pediatric patients with 80 infratentorial and 62 supratentorial tumors (WHO grades I-II: 91 patients; WHO grades III-IV: 46 patients). Symptomatic hydrocephalus was found in 37. Sensitivity and specificity of ophthalmologic examination for predicting hydrocephalus was 0.39 and 0.72. Preoperative EEG has been conducted in 116 patients, showing normal activity in 54 patients (47%). Out of 62 pathologic EEGs, 40 indicated correctly to the site of the lesion, 15 were pathologic despite of infratentorial location of the tumor. Nineteen patients had a history of seizures of which six had normal EEGs. Sensitivity for and specificity of EEG examination for symptomatic epilepsy was 0.68 and 0.7. Conclusion Preoperative routine EEG provides no additional value in the diagnostic algorithm of pediatric train tumors. The low specificity and sensitivity of EEG (even in patients with clinical seizures as primary symptom of a brain tumor) underline that EEG does not contribute to diagnosis and a normal EEG might even delay correct diagnosis.