Clinical guidance for diagnosis and management of suspected Pediatric Acute-onset Neuropsychiatric Syndrome in the Nordic countries.

Pediatric acute-onset neuropsychiatric syndrome is a clinical concept used to describe a subgroup of children with sudden onset of psychiatric and somatic symptoms. The diagnostic term and especially management of children differs depending on the clinical setting to which they present, and the diagnosis and management is controversial. The aim of this paper is to propose a clinical guidance including homogenous diagnostic work-up and management of paediatric acute onset neuropsychiatric syndrome within the Nordic countries. The guidance is authored by a Nordic-UK working group consisting of paediatric neurologist, child psychiatrists and psychologists from Denmark, Norway, Sweden and Great Britain, and is the result of broad consensus. CONCLUSION: Consensus was achieved in the collaboration on work-up and treatment of patients with paediatric acute-onset neuropsychiatric syndrome, which we hope will improve and homogenise patient care and enable future collaborative research in the field.

Understanding Pediatric Neuroimmune Disorder Conflicts: A Neuroradiologic Approach in the Molecular Era.

Neuroimmune disorders in children are a complex group of inflammatory conditions of the central nervous system with diverse pathophysiologic mechanisms and clinical manifestations. Improvements in antibody analysis, genetics, neuroradiology, and different clinical phenotyping have expanded knowledge of the different neuroimmune disorders. The authors focus on pediatric-onset myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease, which is a new entity in the spectrum of inflammatory demyelinating diseases, distinct from both multiple sclerosis (MS) and anti-aquaporin-4 (AQP4) antibody neuromyelitis optica spectrum disorders (NMOSDs). The authors review the importance of an optimized antibody-detection assay, the frequency of MOG antibodies in children with acquired demyelinating syndrome (ADS), the disease course, the clinical spectrum, proposed diagnostic criteria, and neuroimaging of MOG antibody-associated disease. Also, they outline differential diagnosis from other neuroimmune disorders in children according to the putative primary immune mechanism. Finally, they recommend a diagnostic algorithm for the first manifestation of ADS or relapsing ADS that leads to four demyelinating syndromes: MOG antibody-associated disease, AQP4 antibody NMOSDs, MS, and seronegative relapsing ADS. This diagnostic approach provides a framework for the strategic role of neuroradiology in diagnosis of ADS and decision making, to optimize patient care and treatment outcome in concert with clinicians. Online supplemental material is available for this article. ©RSNA, 2020.

[What causes febrile convulsions?]. / Hva skyldes feberkramper?

Febrile convulsions affect 2-5% of children in the age group from 6 months to 5 years. The convulsions seldom have negative consequences for the child's development, but may in rare cases constitute a debut symptom of epilepsy.

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) one adult case of glucose transporter-1 deficiency syndrome with minimal symptoms. Recognizing glucose transporter-1 deficiency syndrome is important, since a ketogenic diet was effective in most of the patients with epilepsy (86%) and also reduced movement disorders in 48% of the patients with a classical phenotype and 71% of the patients with a non-classical phenotype. The average delay in diagnosing classical glucose transporter-1 deficiency syndrome was 6.6 years (range 1 month-16 years). Cerebrospinal fluid glucose was below 2.5 mmol/l (range 0.9-2.4 mmol/l) in all patients and cerebrospinal fluid : blood glucose ratio was below 0.50 in all but one patient (range 0.19-0.52). Cerebrospinal fluid lactate was low to normal in all patients. Our relatively large series of 57 patients with glucose transporter-1 deficiency syndrome allowed us to identify correlations between genotype, phenotype and biochemical data. Type of mutation was related to the severity of mental retardation and the presence of complex movement disorders. Cerebrospinal fluid : blood glucose ratio was related to type of mutation and phenotype. In conclusion, a substantial number of the patients with glucose transporter-1 deficiency syndrome do not have epilepsy. Our study demonstrates that a lumbar puncture provides the diagnostic clue to glucose transporter-1 deficiency syndrome and can thereby dramatically reduce diagnostic delay to allow early start of the ketogenic diet.

[A ten-year old boy with progressive neurologic outcome]. / En ti år gammel gutt med progredierende nevrologiske utfall.

BACKGROUND: Rasmussen's encephalitis is a rare chronic inflammatory disease with unknown etiology. Patients with this condition have symptoms of intractable partial epilepsy, often with epilepsia partialis continua combined with a progressive hemiparesis. MATERIAL AND METHODS: The history of a Norwegian ten-year old boy with Rasmussen's encephalitis is described. RESULTS AND INTERPRETATION: The patient had clinical symptoms of Rasmussen's encephalitis. He had intractable partial epilepsy including epilepsia partialis continua. Cerebral MRI showed unilateral right-sided cerebral atrophy and foci of increased signal intensity in cortical grey and subcortical white matter. The boy was operated with right-sided hemispherectomy and is postoperatively seizure free. To our knowledge, this is the first published Norwegian child with Rasmussen's encephalitis. The disorder may be underdiagnosed in Norway. It is important to recognise this disease as early as possible.

[Infantile spasms]. / Infantile spasmer.

BACKGROUND: Infantile spasms are an epileptic manifestation typical of infancy. The spasms may be associated with a wide spectrum of brain abnormalities and diseases, but coexisting pathology is not always found. Prognosis depends to a substantial extent on the underlying condition. Most of the traditional antiepileptics are not effective. Adrenocorticotropic hormone (ACTH) and more recently vigabatrin are the most common first-line medications. MATERIAL AND METHODS: We have performed a literature search mainly in the PubMed database on the treatment of infantile spasms. The results are discussed in relation to Norwegian practice, for which the Norwegian Paediatric Society's recommendations are the main guidelines. RESULTS/INTERPRETATION: Vigabatrin has emerged as an accepted first-line medication for infantile spasms in Norway and many other countries, although it has not been shown that this therapy in general is as effective as ACTH/steroids. Well-designed treatment studies have been difficult to carry out. Until the final results of such ongoing studies should give different signals, it seems reasonable to continue to give vigabatrin before hormones. Oral steroids can probably be tried before ACTH, although a firm conclusion about this has yet to be drawn.

Multiple sclerosis in children and adolescents. An important differential diagnosis of acute neurological disease.

AIM: Multiple sclerosis (MS) has traditionally been considered a disease of adults. However, in recent years, there have been numerous reports about the disease occurring in childhood and adolescence. The purpose of this article is to document Norwegian experience of this population based on clinical observations and neuroradiological findings. METHODS: Children and adolescents diagnosed with MS at the Department of Child Neurology, Oslo University Hospital, between 1 January 2004 and 1 May 2012 were included. Gender, previous diseases, age, symptoms at first attack, spinal fluid findings and cerebral magnetic resonance tomography (MRI) findings were recorded. The course of the disease, treatment and sequelae was noted. RESULTS: The study includes 18 patients who received MS diagnosis. Median age at onset was 10 years and six months. The presenting symptoms and MRI findings varied. Almost all patients were treated with steroids in the acute phase and later with interferon-beta. Some patients were treated with natalizumab when there was lack of efficiency of interferon-beta. Seven patients developed permanent, moderate sequelae in terms of motor, sensory, or cerebellar symptoms. Nine patients had cognitive difficulties and 11 specified increased fatigability. CONCLUSION: MS in children and adolescents is a disease with varying acute neurological symptoms and findings. The patients were treated with the same medicines as adults with MS and tolerated it well. We found that cognitive sequelae and fatigue were common also in this young age group.