Febrile seizures affect 2–5 % of children and are the most frequent type of cerebral convulsions. Risk factors for recurrence of febrile seizures and for the very rare development of epilepsy are delineated. Treatment of acute seizures, the benefit of a continuing and intermitting prophylaxis, and the efficacy of anti-pyretic drugs are considered from an evidence based view. Epilepsies with an age-specific incidence of 0.5 % belong to the most prevalent chronic diseases in children and adolescents. Their etiology and prognosis vary considerably. An increasing number of anticonvulsant drugs is available for prophylactic treatment in patients with relapsing seizures; their indication is oriented on their expected efficacy in a given epileptic syndrome and tolerability. Children with pharmaco-resistant epilepsy should be evaluated early in regard to a possible epilepsy-surgical treatment. If epilepsy-surgery is not an option, alternatively vagus-nerve stimulation or a ketogenic diet can be considered. In young children not infrequently paroxysmal symptoms of non-epileptic origin and harmless nature occur that, however, can easily be mistaken as epileptic (breath-holding spells, night-time terrors, paroxysmal vertigo, Sandifers syndrome, infantile torticollis). The diagnosis requires a detailed history-taking and sometimes exclusion of more severe conditions. Management is based on information and reassurance of the parents. Syncopes are 10-times more prevalent than epileptic seizures. Usually it is easy to differentiate these by clinical evaluation. In cardiogenic syncopes diagnostic work-up and adequate treatment are extremely important and can be life-saving. In neurogenic-vascular syncopes rather physical roborating measures than drugs are of value. Psychogenic non-epileptic seizures are frequently very complex and difficult to differentiate especially when they appear in patients with true epilepsy. Fieberkrämpfe sind mit 2–5 % die häufigsten zerebralen Krampfanfälle bei Kindern. Risikofaktoren für Fieberkrampf-Rezidive sowie für die sehr seltene Entwicklung einer Epilepsie sind definierbar. Akuttherapie, Langzeitprophylaxe, intermittierende Prophylaxe und die Effektivität einer Therapie mit Antipyretika werden dargestellt. Epilepsien gehören zu den häufigsten chronischen Erkrankungen des Kindes- und Jugendalters. Dabei sind Ätiologie und Prognose sehr unterschiedlich. Zur prophylaktischen Therapie bei rezidivierenden Anfällen steht eine wachsende Zahl von Antiepileptika zur Verfügung, deren Wirkwahrscheinlichkeit und Nebenwirkungs- sowie Interaktionspotenzial eine individuelle Indikationsstellung erfordern. Bei Pharmakoresistenz sollte auch bei Kindern frühzeitig die Möglichkeit einer epilepsiechirurgischen Behandlung durch ein erfahrenes Zentrum abgeklärt werden. Ist eine chirurgische Intervention nicht angezeigt, können alternativ Therapien wie ein Vagusnerv-Stimulator oder Ketogene Diät erwogen werden. Bei Säuglingen und Kleinkindern tritt eine Vielzahl von motorischen und Verhaltenserscheinungen auf, die leicht mit epileptischen Anfällen zu verwechseln sind (respiratorische Affektkrämpfe, Pavor nocturnus, paroxysmaler Schwindel, Sandifer-Syndrom, infantiler Torticollis). Die Diagnose erfolgt klinisch oder durch Ausschluss gravierender Erkrankungen, die Behandlung besteht in erster Linie in der Aufklärung der Eltern. Synkopen sind etwa 10-mal häufiger als epileptische Anfälle. Die Abklärung und gezielte Therapie ist vor allem bei kardiogenen Synkopen essenziell. Bei neuro-vaskulären Synkopen sind eher kreislaufstabilisierende und roborierende Therapien als medikamentöse Ansätze sinnvoll. Psychogene nicht-epileptische Anfälle sind häufig sehr komplex und schwierig abzugrenzen, vor allem wenn sie komorbid mit einer Epilepsie auftreten.
Neurometabolic is a term used with known genetic metabolic defects mainly affecting nervous tissues. The term neurodegenerative refers to a progressive decay of tissue due to a more or less unknown cause. These diseases are mostly classified according to organelles or metabolic domains involved, thereby sometimes uniting diverging clinical pictures. Several diseases can be grouped under clinical viewpoints, such as predominant degeneration of white matter in leukodystrophies or of gray matter in neuronal ceroid lipofuscinoses, neurolipidoses and mucopolysaccharidoses. Mitochondriopathies in childhood present as progressive encephalopathies, but may involve any other organ. There is no established intervention, but there are therapeutic concepts which intend to influence different pathobiochemical processes. In the field of peroxisomal disorders early adrenoleukodystrophy can be treated by hematopoetic stem-cell transplantation and Refsum disease by plasma exchange. Recent experimental therapies in metachromatic leukodystrophy comprise bone marrow stem cell transplantation and intrathecal enzyme replacement. In the group of gray matter diseases a causal therapy is possible for Niemann-Pick disease type C, in which an inhibitor of sphingolipid synthesis may mitigate disease progression. Enzyme replacement therapies and hematopoetic stem cell therapy are established therapeutic strategies in some mucopolysaccharidoses. Among the congenital disorders of glycosylation an effective treatment is currently available for types MPI-CDG, PGM1-CDG and SLC35C1-CDG. Metal metabolism is affected in Menkes syndrome, Wilson disease and in the group of neurodegenerations with brain iron accumulation (NBIA). In Menkes disease with relevant residual function of the ATP7A protein subcutaneous copper histidine can be effective. In M. Wilson chelating agents are the treatment of choice and have to be started as early as possible. Other metabolic errors which are primarily due to a liver dysfunction but also affect the nervous system are summarized briefly with focus on important treatment options.
New pathophysiological insights into genetic diseases render the development of new treatment concepts possible, both in animal models and in man. Examples are the manipulation of cholesterol metabolism in Smith-Lemly-Opitz syndrome, the use of NMDA-antagonists and GABA-agonists in Down syndrome, application of MMP-9 inhibitors in fra-X and Angelman syndrome (AS), topoisomerase inhibitors in AS and many others. Administration of growth hormone is an accepted treatment in Prader-Willi syndrome although its mode of action is not fully understood. This chapter puts the therapeutic data into its clinical context and reconsiders it critically.Conduct disorders and psychiatric diseases are much more prevalent in mentally retarded patients with genetic diseases. The chapter gives hints to their cause and diagnoses and discusses broadly a large number of well evaluated behavioral and group therapies. Neue pathophysiologische Erkenntnisse zu genetischen Erkrankungen ermöglichen die Entwicklung neuer Therapiekonzepte im Tiermodell und schließlich auch in klinischen Studien. Beispiele hierfür sind die Beeinflussung des Cholesterinspiegels beim Smith-Lemli-Opitz-Syndrom, der Einsatz von NMDA-Antagonisten und GABA-Agonisten beim Down-Syndrom, die Anwendung von Hemmern der MMP-9 bei fra-X- und Angelman-Syndrom (AS) sowie von Topoisomerase-Inhibitoren beim AS und etliche andere. Eine nahezu etablierte obwohl im Wirkmechanismus noch nicht voll verstandene Therapie ist die Verabreichung von Wachstumshormon beim Prader-Willi-Syndrom. Das Kapitel stellt die Behandlungskonzepte in ihren klinischen Kontext und bewertet sie kritisch.Verhaltensstörungen und psychische Erkrankungen treten bei Patienten mit genetischen Syndromen und geistiger Behinderung wesentlich häufiger auf als in der übrigen Bevölkerung. Das Kapitel gibt Hinweise zu den Ursachen der Störungen, erläutert die Diagnostik und zahlreiche evaluierte Therapieansätze.
The process of rehabilitation is best described by its aim: to reach the best-possible degree of physical and psychological independency by means of a detailed program of treatments. In children, an additional specific aim is to make normal developmental progress possible. To reach these objectives, a multidisciplinary program including medical, pharmacological and physical training methods is necessary. This chapter describes the therapeutic techniques and comments on their evidence base. Eine der treffendsten Definitionen für den Prozess der Rehabilitation ist: „Erreichen eines größtmöglichen Ausmaßes an physischer und psychischer Unabhängigkeit durch ein sorgfältig geplantes Programm“. Bei Kindern ist ein zusätzlicher Aspekt die Ausschöpfung des Entwicklungspotenzials. Um dies zu erreichen, ist die Zusammenführung medizinischer, pharmakologischer und übend-therapeutischer Verfahren unabdingbar. Dieses Kapitel beschreibt die therapeutischen Techniken unter Berücksichtigung der Evidenzlage.
Development of the nervous system starts on gestational day (GD) 16–17 with neurulation. The ends of the neural tube close until GD 26. From GW 5–30 neuroblasts proliferate in the subventricular zone and migrate to their destinations during gestational week (GW) 6–35. Axons and dendrites first appear in GW 10 and continue to grow until the age of 5 years. Myelination by oligodendroglia begins in GW 14 and lasts on until adolescence. Congenital malformations of the central nervous system (CNS) are a main subject for neuropediatricians due to a prevalence of 5–10/1,000 live births. Neural tube defects constitute a major fraction of all CNS malformations. Prenatal parenchymal necrosis are rare and comprise uni or bilateral defects in the territories of the internal carotid artery or middle cerebral artery. Prenatal diagnostics including 3D ultrasound, fetal MRI, fetoscopy, chromosomal diagnosis and biochemical screening, plays an important role in counselling, prevention and therapy. Hydrocephalus is a common disorder with an incidence of 0.2–3.5/1,000 live births. Disturbances of cerebrospinal fluid circulation (non-communicating hydrocephalus) and resorption (communicating hydrocephalus) may already develop in utero. Ventriculo-peritoneal shunts and endoscopic ventriculo-cisternostomy are long-term therapeutic solutions.
Neuromuscular Disorders (NMD) are due to structural or functional alterations of motor units. The respective motor neuron diseases, neuropathies, neuromuscular transmission defects and myopathies in children are far more frequently due to genetic diseases than acquired. The acquired disorders are important because they mostly can be treated effectively. In the field of genetic NMDs the last years have brought a considerable increase of knowledge regarding etiology and pathophysiology. However, the resulting treatment efforts are at the best in their experimental state. The management of the NMDs comprises complex efforts regarding an early diagnosis and symptomatic treatment with the aim to maintain or improve quality of life in these variably progressive conditions. Internationally consented Standards of Care have been developed for the most important of these diseases. The principles of these and their evidence base are discussed in this chapter. Neuromuskuläre Erkrankungen (NME) beruhen auf strukturellen oder funktionellen Alterationen im Bereich der motorischen Einheit. Die zugehörigen Motoneuron-Erkrankungen, Neuropathien, neuromuskulären Übertragungsstörungen und Myopathien sind im Kindesalter sehr viel häufiger genetisch verursacht als erworben. Dennoch sind die erworbenen NME bedeutsam wegen ihrer prinzipiellen Behandelbarkeit. Im Bereich der genetischen Erkrankungen haben die zurückliegenden Jahre wesentliche Erkenntnisse zu Ursache und Pathophysiologie erbracht. Daraus resultierende Behandlungsansätze befinden sich aber allenfalls in einem experimentellen Stadium. Das Management dieser Erkrankungen umfasst komplexe Aufgaben bei der frühzeitigen Diagnosestellung und symptomatischen Therapie zur Erhaltung und Verbesserung der Lebensqualität bei unterschiedlich rascher Progredienz. Für die wichtigsten Erkrankungen wurden international konsentierte Versorgungsstandards erarbeitet, deren Prinzipien in diesem Kapitel mit ihrer Evidenzbasis dargestellt werden.
Polytrauma in children is rare but potentially life-threatening. At the site of the accident the physician has to stabilize respiration and circulation to achieve normoxia and normotonia. The Glasgow Coma Scale allows for assessment of the severity of the trauma and for an estimate of the prognosis. Accompanying lesions such as internal bleeding, spine fractures or peripheral nerve lesions have to be assessed. The patient will be transferred to a pediatric intensive care unit in a hospital with neurosurgical facilities. After eventual (neuro)surgical interventions, cerebral perfusion pressure has to be monitored and maintained. Early start of physiotherapy and supportive care involving parents and families enables a successful rehabilitation. Kindliche Polytraumen sind seltene, aber lebensbedrohliche Erkrankungen. Am Unfallort müssen Atmung und Kreislauf stabilisiert werden, um Normoxie und Normotonie zu erreichen. Die Verwendung der Glasgow Coma Scale ermöglicht die Einordnung der Schwere des Traumas und eine gewisse Abschätzung der Prognose. Begleitverletzungen wie innere Blutungen, Wirbelsäulenfrakturen oder Läsionen peripherer Nerven müssen ausgeschlossen werden. Der Patient wird auf eine pädiatrische Intensivstation verlegt, in einem Krankenhaus mit neurochirurgischer Abteilung. Nach den notwendigen (neuro)chirurgischen Interventionen wird der zerebrale Perfusionsdruck überwacht und aufrechterhalten. Ein früher Beginn von Physiotherapie und supportiven Maßnahmen unter Einbeziehung von Eltern und Familie erleichtern eine erfolgreiche Rehabilitation.
With a prevalence of 5–6 % the isolated disorder of motor development, also known as Developmental Coordination Disorder, is the most frequent motor dysfunction.
Potenziell intensivpflichtige entzündliche Erkrankungen des Nervensystems kann man in Infektionskrankheiten, Komplikationen dieser Infektionskrankheiten, immunvermittelte Erkrankungen und Autoimmunerkrankungen einteilen.
This report is on six cases of a chronic relentlessly progressive encephalitis occurring in boys with congenital hypogammaglobulinemia presumably of the x-linked type, which are thought to represent a separate neurological entity. Intellectual deterioration, dysarthria, spasticity, ataxia, optic atrophy and an increase of lymphocytes in the cerebrospinal fluid, were the main clinical signs. The pathological picture was that of a viral encephalitis, but all virological investigations on brain biopsies and CSF were negative. The significance of intra-cisternal tubuloreticular inclusions in brain endothelial cells, similarities with chronic rubella encephalitis, and the role of the immunological deficiency are discussed. Sofar, the cause of this new type of encephalitis remains obscure.
Two children with a history of traumatic delivery developed severe temporal lobe epilepsy starting at age 4 and 10 respectively. The main neurological finding was total homonymous hemianopsia. The CAT Scan showed a large localised hypodensity in the occipital region on one side consistent with an old infarction in that region. A similar clinical syndrome was described in 1974 by Remillard as temporal lobe epilepsy and perinatal occlusion of the posterior cerebral artery (PCA). In one of our cases, the clinical course suggested that vascular occlusion in the PCA territory resulted from temporal lobe herniation related to a subdural hematoma at birth. It is proposed that this mechanism may apply to some instances of that condition. This clinical syndrome is now increasingly diagnosed as a large number of epileptics are now submitted to CAT. The diagnosis can be delayed until a seizure disorder develops because of the frequent absence of obvious neuromotor signs or visual complaints in the first years of life. Early recognition of this particular type of neonatal cerebral injury could possibly lead to prevention or early treatment.
A prospective epidemiological study of the incidence of simple febrile convulsions (FC) was performed in a northern Swedish county. The yearly incidence was 700/100 000. The children with FC were re-examined three years later. The pre- and perinatal complications were significantly more common in the group of children with FC than in a randomly collected group of controls. The value of an extensive investigation program is discussed. Between six months and five years of age the children with FC can be separated from those with other cerebral diseases causing epileptic seizures by recording a thorough history followed by a somatic and neurological physical examination and a determination of acute blood glucose. In children less than six months of age and in children in which meningitis or encephalitis cannot be ruled out, a lumbar puncture and a blood culture should be performed. If the onset of the convulsion has been after five years of age, if the seizures are partial or have a duration of more than 30 minutes, or if signs of cerebral disease are found, the examination should be supplemented with EEG and relevant investigations. There is no need for an extensive routine program of investigations in the care of children with FC.
Eleven preschool children with febrile convulsions or epilepsy were started on phenobarbital. Before treatment was started and at regular intervals after the onset of medication up to one year psychological tests were applied and the behaviour of the children analyzed. The plasma levels of phenobarbital were recorded. A transient deterioration of fine motor functions and behavioural disturbances were found in most children during the first weeks and months. The problems subsided thereafter and at one year follow up the drug-induced changes had disappeared. The need for extended studies is underlined.
This is the report of two cases of infantile spasms, manifesting transient brain shrinkage in computerized tomography (CT) after ACTH treatment. ACTH was given for 8 weeks to a 8-months-old Japanese girl with infantile spasms. First CT performed at 2 weeks after the final ACTH injection, displayed moderate brain shrinkage. Second CT at 4 months showed marked diminution of the shrinkage. ACTH was also given for 8 weeks to a 14 months old Japanese boy with infantile spasms. First CT, just before ACTH treatment, showed mild cortical atrophy, the second at 7 days after the final ACTH injection revealed marked brain shrinkage and moderate ventricular dilatation, and the third at 2 months, disclosed mild improvement of the shrinkage. ACTH or corticoateroid has widespread effects on the developing nervous system. In animal experiments, ACTH or steroids interfere with brain growth of young rats. CT findings of transient brain shrinkage in a child with infantile spasms might suggest that intensive treatment with ACTH or steroids in infancy interferes with brain growth as seen in the results of animal experiments.
We investigated 161 children under 24 months of age by CT of the skull and reviewed the anamnestic and clinical history. 87 children showed subdural effusions, and 74 did not. There were 33 patients with other pathological findings in CT, and 41 had normal scans. Age and sex distribution as well as localization of the subdural effusions were consistent with the literature. The 87 children with subdural effusions represented 1.7% in a sample of about 5.000 CT scans. CT was the most reliable method for diagnosis of subdural effusions, compared to other techniques. There was a preponderance of small subdural effusions from 1 to 7 mm thickness (51%). Other CT abnormalities accompanying subdural effusions were found. Most frequently the interhemispheric sulcus was dilated and an internal hydrocephalus was present. Also in our group there were 7 anamnestical and 6 clinical symptoms highly diagnostic of subdural effusions.
