Zusammenfassung Wir beschreiben zwei Patienten mit beidseitiger Mastoiditis und kompliziertem Verlauf nach Otitis media. Ein 6‑jähriger Junge entwickelte eine Meningitis und ein 5‑jähriger Junge eine Osteomyelitis und Arthritis. Beide Fälle zeigen extrem seltene und invasive Komplikationen bei typischem Erregernachweis. In den letzten Jahren findet sich eine Zunahme an invasiven Infektionen im Kindesalter. Die Fälle unterstreichen die Notwendigkeit einer zielgerichteten Diagnostik und raschen Therapieeinleitung.
Achondroplasia, the most common genetic cause of disproportionate short stature, is caused by heterozygous gain-of-function mutations in the FGFR3 gene. This upregulates FGFR3 pathway activity, which inhibits the proliferation and differentiation of chondrocytes in the growth plates. Typical clinical manifestations include rhizomelic short stature, macrocephaly, and midface hypoplasia. Children with achondroplasia follow a characteristic growth curve and exhibit delayed motor development, whilst cognitive function is unimpaired. Important complications include life-threatening apnoea in infancy and early childhood, foramen magnum stenosis, orthopedic deformities and otolaryngological conditions. In addition to surgical interventions aimed at alleviating symptoms, disease-specific precision-drug treatments are now available in the form of vosoritide and navepegritide; other growth-modulating therapies are currently in clinical trials. Early diagnosis and structured, interdisciplinary care are crucial for identifying complications at an early stage and improving quality of life.
Olfactory disorders can occur even in childhood. In the majority of olfactory disorders in this age group they are congenital in nature. Congenital olfactory disorders can be further classified into isolated and syndromic forms. The most frequent cause of acquired olfactory disorders is posttraumatic olfactory defects following traumatic brain injury. Age-appropriate, validated and reliable tests are available to assess olfactory function. In acquired olfactory disorders, interventions such as olfactory training can represent a therapeutic option, depending on the underlying cause. Currently, no treatment is available for congenital olfactory disorders, making detailed counselling regarding potential impacts on daily life, including hygiene measures and hazard recognition, essential.
Well-child visits not only serve to detect diseases and developmental disorders at an early stage but also provide a unique opportunity for preventive counselling in pediatric practice. Anticipatory counselling addresses questions arising from the child's or adolescent's next developmental milestones and from typical challenges in the everyday lives of children, adolescents and their families. This particular form of counselling encompasses aspects of child development and parenting, sleep and regulation, nutrition and digital media as well as psychosocial aspects and health promotion, such as injury prevention, oral health, and maintaining a smoke-free environment. This article describes the different dimensions of anticipatory counselling, summarizes the evidence on the effectiveness of selected counselling approaches and provides a tabular overview of potential counselling topics for the individual well-child visits. Anticipatory guidance represents a development-oriented task in pediatric care.
