ZusammenfassungDas vorliegende Konsensuspapier bietet in Ergänzung zur AWMF-S1-Leitlinie eine Übersicht über die verschiedenen klinischen Aspekte von Long COVID im Kindes- und Jugendalter. Es wurde von Vertreter:innen aus 19 Fachgesellschaften des DGKJ-Konvents und kooperierenden Fachgesellschaften erstellt und bietet Expertenempfehlungen für die Praxis auf Grundlage der bisherigen, noch geringen studienbasierten Evidenz zu Long COVID im Kindes- und Jugendalter. Es enthält Screeningfragen zu Long COVID sowie einen Vorschlag zur strukturierten, standardisierten pädiatrischen Anamnese und zur diagnostischen Evaluation bei V. a. Long COVID. Dazu werden ein zeit- und ressourcensparender Erfassungsbogen, der die Komplexität des Krankheitsbildes berücksichtigt, über die Internetseiten der DGKJ und DGPI zur Verfügung gestellt und weitere Fragebögen zur Abklärung von spezifischen neurokognitiven und/oder psychischen Störungen sowie post-exertioneller Malaise (PEM) und myalgischer Enzephalomyelitis/chronischem Fatigue-Syndrom (ME/CFS) benannt. Anhand der jeweiligen anamnestisch und klinisch ermittelten Hauptsymptome werden ein gestuftes, diagnostisches Vorgehen und eine multidisziplinäre Betreuung empfohlen.

Aim: Ictal epileptic headache (IEH) is a rare and underestimated epileptic form, characterised by epileptiform discharges and headache attacks without any other ictal sensory-motor manifestations. IEH is difficult to diagnose, because the epileptiform discharges have to be registered during the headache attack and the headache has to disappear after the intravenous administration of an anti-epileptic drug, according to the last diagnostic criteria. This study explored the clinical, neuro-physiological and therapeutic features of IEH in the paediatric population. Methods:We analysed two novel cases of adolescent female patients with chronic headache and a long history of unsuccessful analgesic oral therapy and without any other ictal sensory-motor events. We also reviewed the entire literature on paediatric IEH. Results:The clinical history and diagnostic process led us to highly suspect IEH in both patients, and the successful therapy with oral anti-epileptic drugs, namely topiramate and ethosuximide, which resolved the chronic headache, enforced our diagnostic hypothesis. Our literature review highlighted the rarity of IEH clinical reports, particularly in the paediatric population, mainly due to the stringent diagnostic criteria.

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Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes that play a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. By using clinical, neuroradiological, neurophysiological, and genetic assessment, we studied 3 siblings affected by 2 different forms of very severe neuropsychological impairment with structural physical abnormalities, epilepsy, and body overgrowth. The genetic analysis revealed 2 different unbalanced translocations t(10;22)(q26.13;q13.32) of genetic material between the long arms of chromosomes 10 and 22, deriving from a maternal balanced translocation. Consequences of the unbalanced translocation were the simultaneous partial monosomy of 10q26.13 to 10qter and partial trisomy of 22q13.32 to 22qter in 2 patients and the simultaneous trisomy distal q10 and monosomy distal q22 in 1 patient, respectively. To the best of our knowledge, we here describe for the first time a causal association between an unbalanced translocation t(10;22) affecting the long arms of both chromosomes 10 and 22 and a very severe neurodevelopmental delay in 3 siblings.

BackgroundNon-progressive cerebellar ataxia with mental retardation (CANPMR, OMIM 614756) and chromosome 1p32-p31 deletion syndrome (OMIM 613735) are two very rare inherited disorders, which are caused by mono-allelic deficiency (haplo-insufficiency) of calmodulin-binding transcription activator 1 (CAMTA1) and, respectively, nuclear factor 1 A (NFIA) genes. The yet reported patients affected by mono-allelic CAMTA1 dysfunction presented with neonatal hypotonia, delayed and ataxic gait, cerebellar atrophy, psychological delay and speech impairment, while individuals carrying a disrupted NFIA allele suffered from agenesis/hypoplasia of the corpus callosum, ventriculomegaly, developmental delay and urinary tract abnormalities. Both disorders were not seen in one patient together before.ResultsIn this study two related individuals affected by a complex clinical syndrome, characterized by cognitive, neurological and nephrological features were studied for the underlying genetic disorder(s) by molecular cytogenetics. The two individuals present dysmorphic facies, macrocephaly, generalized ataxia, mild tremor, strabismus, mild mental retardation and kidney hypoplasia. Moreover, neuro-radiological studies showed hypoplasia of corpus callosum. Genetic investigations revealed a paracentric inversion in the short arm of one chromosome 1 with breakpoints within CAMTA1 and NFIA coding sequences.ConclusionsTo the best of our knowledge, this is the first report of two patients harboring the simultaneous mono-allelic disruptions and consequent haplo-insufficiencies of two genes due to an inversion event. Disruption of CAMTA1 and NFIA genes led to neuro-psychological and nephrological dysfunctions, which comprised clinical features of CANPMR syndrome as well as chromosome 1p32-p31 deletion syndrome.