Klinische Padiatrie最新文献

Malaria can cause severe complications including cerebral involvement and long-term neurocognitive impairment, especially in young children. Our study presents data on pediatric malaria cases with a focus on long-term neurological and neurocognitive outcomes following standardized treatment.This retrospective, single-centre study analyzed all pediatric malaria cases treated at our tertiary care hospital in 2023. Follow-ups included neurological examinations, standardized intelligence testing, electroencephalography, and cranial magnetic resonance imaging, with additional assessments provided as needed.Eleven patients (median age: 9.5 y) were included, with Plasmodium falciparum identified in 91% of cases. Eight (72.7%) patients were diagnosed with severe malaria. Artesunate was used as first-line therapy in 64% of patients. Residual neurological symptoms were observed in 82% of patients. Neurocognitive testing revealed deficits in 44% of the tested patients. Electroencephalographic abnormalities were noted in four patients; three patients developed epilepsies. Cranial magnetic resonance imaging findings included cytotoxic lesions of the corpus callosum and trigonal lesions in three patients. At 12 months, 77.8% of patients showed clinical improvement.Despite prompt, guideline-appropriate treatment, pediatric malaria patients in our cohort exhibited high rates of neurological sequelae requiring rehabilitative and pharmacological treatments. These findings highlight the need for a coordinated follow-up even in non-endemic countries.

The care and treatment of children and adolescents requiring long-term ventilation pursues several overarching goals and is ideally carried out through interdisciplinary collaboration within an experienced, multidisciplinary team.In children and adolescents, neuromuscular diseases resulting in respiratory insufficiency are the primary cause of long-term dependence on a ventilator. In addition to the diseases that necessitate long-term ventilation, airway obstructions, trauma, malformations associated with genetic syndromes, and, rarely, insufficient secretion clearance or severe dysphagia with aspiration in spontaneously breathing patients are indications for tracheotomy. For many of these congenital diseases, the disease course and prognosis do not inherently suggest any potential for weaning or decannulation.Consequently, some of the measures and examinations required by the German Federal Joint Committee's (GBA) guidelines on outpatient intensive care may be unnecessary or even contraindicated in children and adolescents.

Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by poikiloderma, growth retardation, juvenile cataracts, congenital anomalies, and skeletal defects. Rothmund-Thomson syndrome type 2 is caused by biallelic mutations in the RECQL4 gene, leading to DNA repair deficiency and cancer predisposition.We report six pediatric patients from three unrelated families carrying the same pathogenic variant associated with Rothmund-Thomson syndrome type 2. All patients exhibited poikiloderma, facial telangiectasia, skin atrophy, growth retardation, microcephaly, and learning difficulties. Trunk was spared. One patient had hearing loss; another was diagnosed after the appearance of facial lesions, following chronic diarrhea and malnutrition. Osteopenia and metaphyseal growth lines were common on radiographs. Rothmund-Thomson syndrome was diagnosed based on clinical and radiological features. RECQL4 sequencing revealed a homozygous pathogenic c.2415_2419del (p.Gly806_Arg807delinsTer) variant in four patients, and compound heterozygosity with the same variant and a novel pathogenic c.1663_1664del (p.Ser555GlyfsTer27) variant in two siblings.Rare DNA repair disorders should be considered in the differential diagnosis of genodermatoses, especially when accompanied by growth retardation and microcephaly. Our findings highlight the value of combining dermatological, radiological, and molecular assessments for accurate diagnosis and counseling. The recurrence of the same variant in unrelated families from one region suggests a founder effect.

Vitamin A is a fat-soluble micronutrient essential for normal embryonic development, cell differentiation, growth, vision, immunity and reproduction. The aim of this study was to evaluate the effect of vitamin A and retinol-binding protein levels in cord blood of babies born at or below the 31^st gestational week on respiratory distress syndrome, intraventricular haemorrhage, necrotising enterocolitis, retinopathy of prematurity and bronchopulmonary dysplasia and mortality.Babies born between 25 0/7 and 30 6/7 gestational weeks were included in the study between January 2021 and December 2022. Blood samples were obtained from the cord blood for retinol and retinol-binding protein levels.Sixty preterm infants born between 25 0/7 and 30 6/7 gestational weeks were included in this study. The mean vitamin A level was 244±140 µg/L and the mean retinol-binding protein level was 1.7±0.4 mg/dL. Among premature infants, 43% had low vitamin A levels and 38% had low retinol-binding protein levels. The retinol-binding protein level was found to be significantly lower in babies with retinopathy of prematurity compared with babies without retinopathy of prematurity (p<0.05).In our study in which we investigated the effect of vitamin A and retinol-binding protein levels on morbidity and mortality in preterm infants, we showed that retinopathy of prematurity increased with low retinol-binding protein levels in cord blood. Further studies by evaluating the retinol-binding protein level together with the vitamin A level in the later days of life in response to vitamin A supplementation may more accurately show the effect of vitamin A on neonatal morbidities.

We report on an 8-week-old infant who presented as an outpatient due to abnormal skin color a few hours after surgical achillotomy under local anesthesia. The infant showed a dirty brownish, cyanotic skin color with reduced general condition and hypoxemia at SaO2 84% without improvement by oxygen supplementation. The blood gas analysis showed lactic acidosis and a significantly elevated methemoglobin level of 38% (reference value≤1.5%). Due to the temporal correlation, this is most likely due to the infiltration anesthesia with mepivacaine, which was performed for the achillotomy. Treatment with methylene blue was administered, resulting in a restitutio ad integrum.Methemoglobin is formed by the oxidation of iron contained in hemoglobin, which prevents oxygen from binding. Significant cyanosis can occur when the methemoglobin level exceeds 10%. The reduction of methemoglobin to oxyhemoglobin by the enzyme NADH cytochrome b5 reductase is physiologically not fully developed in young infants. Furthermore, the hemoglobin of young infants is more easily oxidized, which makes these children susceptible to methemoglobinaemia. As the methemoglobin content increases, the blood turns brown with increasing levels of methemoglobin, which is visible clinically and in blood samples.Local anesthetics applied cutaneously, subcutaneously or mucous membranes can cause clinically relevant methemoglobinemia, which can result in potentially severe hypoxemia. The risk is increased in young infants. It is important to recognize methemoglobinemia as the cause of cyanosis in time, as it is easily treatable.

Background: Familial Mediterranean fever (FMF) is a chronic disease characterized by recurrent episodes of fever and polyserositis. This study aimed to assess children's quality of life (QoL), as reported by children and their parents, and to compare the results according to clinical variables.

Material and methods: The study examined 107 children with FMF, evaluating their demographic and genetic data, utilizing the Pediatric Quality of Life Inventory (PedsQL) to assess QoL, and comparing scores based on disease severity.

Results: The severity of FMF is inversely correlated with QoL scores, with mild cases having the highest scores (97±4), followed by moderate (76±11) and severe cases (52±10.3) (p<0,001). Disease severity, treatment adherence, healthcare utilization, genetic mutations, family income, and maternal age at birth all significantly impact perceived quality of life in FMF patients (p<0,001). Additionally, parents reported lower QoL for children with FMF who experienced various adverse factors such as low family income, household smoking, frequent attacks, hospitalizations, irregular medication use, and low maternal education levels (p<0,001).

Conclusion: Children's daily activities, academic performance, and family functioning are all significantly impacted by FMF. Physicians caring for patients with FMF should be aware of the QoL changes in the management of these patients. As a result, medical therapy, patient education, and indicators of psychological and social support can all be offered more effectively.