Glucose transporter type 1 (GLUT1) is the most important energy carrier of the brain across the blood–brain barrier, and a genetic defect of GLUT1 is known as GLUT1 deficiency syndrome (GLUT1DS). It is characterized by early infantile seizures, developmental delay, microcephaly, ataxia, and various paroxysmal neurological phenomena. In most cases, GLUT1DS is caused by heterozygous single-nucleotide variants (SNVs) in the SLC2A1 gene that provoke complete or severe impairment of the functionality and/or expression of GLUT1 in the brain. Despite the rarity of these diseases, GLUT1DS is of high clinical interest since a very effective therapy, the ketogenic diet, can improve or reverse symptoms, especially if it is started as early as possible. We present a clinical phenotype, biochemical analysis, electroencephalographic and neuropsychological features of an 11-month-old boy with myoclonic seizures, hypogammaglobulinemia, and mildly impaired gross motor development. Using sequence analysis and deletion/duplication testing, deletion of an entire coding sequence in the SLC2A1 gene was detected. Early introduction of a modified Atkins diet maintained a seizure-free period without antiseizure medications and normal cognitive development in the follow-up period. Our report summarizes the clinical features of GLUT1 syndromes and discusses the importance of early identification and molecular confirmation of GLUT1DS as a treatable metabolic disorder.

Background and Objectives: There are limited data regarding the incidence and risk factors for hypoglycemia, hyperglycemia, and unstable glycemia in preterm infants. The aim of the present study was to determine the incidence and risk factors associated with neonatal hypoglycemia, hyperglycemia, and unstable glycemia in preterm infants during the first seven days of life. Materials and Methods: This prospective study included preterm infants <37 weeks of gestation, admitted to the Neonatal Intensive Care Unit between January 2018 and December 2020. Based on blood glucose levels in the first week of life, infants were divided into the following four groups: normoglycemic, hypoglycemic, hyperglycemic, and unstable. Blood glucose levels were measured from capillary blood at the 1st, 3rd, 6th, and 12th hour of life during the first 24 h, and at least once a day from days 2 to 7, prefeed. Results: Of 445 enrolled infants, 20.7% (92/445) were categorized as hypoglycemic, 9.9% (44/445) as hyperglycemic, and 2.9% (13/445) as unstable, respectively. Hypoglycemia was most commonly observed among infants ≥34 weeks (27.9%), and hyperglycemia was most common among preterm infants <28 weeks (50%). Female gender increased the chances of developing hypoglycemia by three times. The decrease in gestational age by one week increased the chance of developing hyperglycemia by 1.9 times. Sepsis increased the chance of developing hyperglycemia seven times, respiratory distress syndrome five times, and mechanical ventilation three times, respectively. Conclusions: Glucose disturbances in the early neonatal period in preterm infants are common and mostly asymptomatic. Therefore, careful blood glucose level monitoring is required in those infants, especially in late preterm infants, in order to prevent possible neurological complications.

Teška astma je složena i heterogena bolest obilježena neprimjerenom kontrolom unatoč visokom stupnju liječenja. Procjenjuje se kako je prisutna u 2 -5% djece s astmom, češće u djece starije od 10 godina i u dječaka. Iako je teška astma rijetka, ova skupina djece ima povećani rizik nuspojava liječenja, kao i teških i po život opasnih egzacerbacija. Povećani su izravni i neizravni troškovi u vidu potrošnje lijekova, češćih redovitih i hitnih posjeta liječniku, hospitalizacija, izostanaka s nastave i roditeljskih odsustava s posla.Defi nicije teške astme nisu ujednačene, ali im je svima zajednička potreba za kombinacijskim liječenjem inhalacijskim kortikosteroidima i bronhodilatatorima dugog djelovanja u visokim dozama neophodnima za kontrolu simptoma, ili, čak nedostatnima za punu kontrolu bolesti. Nekontrolirana astma zahtijeva iscrpno preispitivanje koje uključuje diferencijalno dijagnostičku reevaluaciju i nedvojbenu potvrdu dijagnoze astme, otkrivanje otegotnih čimbenika poput neredovitog uzimanja i/ili loše tehnike primjene inhalacijskih lijekova, utjecaja okoliša (izloženost alergenima i iritansima) te komorbiditeta (bolesti gornjeg dišnog puta, gastroezofagusni refl uks, pretilost i anksioznost). Ukoliko je dijagnoza astme potvrđena, a otegotni čimbenici ispravljeni, te je postignuta kontrola bolesti, radi se o teško lječivoj astmi (engl. diffi cult-to-treat asthma). Ako se ovim mjerama ne postigne kontrola, radi se o teškoj rezistentnoj astmi (engl. severe, therapy-resistant asthma). U pristupu djetetu s teško lječivom astmom slijedimo sistematičnu evaluaciju kojom u približno dvije trećine bolesnika djelovanjem na modifi cirajuće čimbenike ispunjavamo dugoročne ciljeve liječenja kroz postizanje kontrole simptoma te smanjenje rizika za pogoršanja i nepovratna oštećenja bronha/komplikacija liječenja. U preostale djece, u koje primjena ovih mjera ne dovodi do uspostave kontrole, radi se o teškoj, na terapiju rezistentnoj astmi. U njih slijedi, kroz određivanje fenotipskih obilježja, izbor biološkog liječenja temeljnog na pretpostavljenom endotipu.

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Aim To identify the risk factors of a repeated episode of severe febrile neutropenia (FN) and to build an accurate and easy-to-use predictive model. Methods This single-center retrospective cohort study conducted at the Clinical Hospital Center Children’s Hospital Rijeka from January 1, 2008 to December 31, 2016 included pediatric patients with malignant diseases who experienced at least one FN episode. The association of the second severe FN episode appearance with relevant clinical and laboratory data was analyzed by logistic regression. Results Out of 45 patients with one FN episode, 25 (56%) had severe FN and 11 (24%) had repeated severe FNs. Significant predictors of a repeated severe FN episode were the first FN episode duration of 9 or more days and red blood cells ≤3.0 × 10 12 /L. The predictive model constructed by crossing these two indicators had the accuracy of 87% (95% confidence interval [CI] 73%-94%), sensitivity of 82% (95% CI 53%-97%), and specificity of 88% (95% CI 79%-93%). Conclusion The first FN episode duration and anemia are significantly associated with the risk for severe FN re-occurrence. These factors may be useful in the identification of children with cancer who are at high risk for adverse outcome at any future fever onset and may benefit from early intensive treatment.