17 documents found, page 1 of 2

How do Children Play Nowadays? Habits and Strategies for Promoting Healthy Deve...

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Insulin-like growth factor 1 as a diagnostic marker of progressive central prec...

Funding Information: Open access funding provided by FCT|FCCN (b-on). Centro Acad\u00E9mico Cl\u00EDnico\u2014Egas Moniz Health Alliance,University of Aveiro,Portugal Publisher Copyright: © The Author(s) 2025.; Central precocious puberty (CPP) diagnosis often requires invasive GnRH stimulation tests. Our purpose was to determine whether the IGF-1 and IGF-1 SDSs are reliable predictors of progressive CPP. This w...

Pelizaeus-Merzbacher Disease: A Rare Cause of Nystagmus and Developmental Delay

Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy of the central nervous system characterized by a developmental arrest in myelin formation. It is classified into five phenotypes, with different severity. The most common clinical features are nystagmus, spasticity, tremor, ataxia, and hypotonia. A 11-month-old child was referred to the Neuropediatric Unit due to nystagmus, hypotonia, and developm...

ACAN Pathogenic Variant as a Cause of Short Stature

Pathogenic variants of the aggrecan (ACAN) gene have been associated with a wide spectrum of growth modifications ranging from idiopathic short stature to severe skeletal dysplasia. We reported a case of an 8-year-old male observed in a pediatric endocrinology consultation for short stature (-3.46 standard deviation score). Investigation revealed a bone age advance of less than one year, somatotropin stimulatio...

Ups and Downs of Trampoline Use by Children: Risks and Current Recommendations

The widespread increase in the recreational use of trampolines by children can be partially explained by the recent need to stay indoors during lockdowns due to the coronavirus disease 2019 pandemic. At the same time, there was a global increase in the number of pediatric accidents resulting from the domestic use of these devices. The resulting injuries may be severe, especially in younger age groups. Although ...

Dermatology clinical case

Multiple lentigines (LEOPARD) syndrome is an inherited autosomal dominant disorder. LEOPARD is an acronym for the most important features of the disease: multiple lentiginous lesions, abnormal electrocardiogram, ocular hypertelorism, pulmonary stenosis, genital and reproductive abnormalities, growth retardation, and sensorineural deafness. Herein is reported the case of a 14-year-old male who presented with sho...

Endocrine disorders in children with neurofibromatosis type 1: What to look for?

Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders, with a reported incidence of 1:3000. The condition is multisystemic, and diagnostic criteria have been recently revised as an international consensus recommendation. The clinical features evolve slowly and progressively and may often be absent in early childhood. Disorders of growth and endocrine conditions, although described for sever...

Subclinical Hypothyroidism in Children: Approach Protocol Proposed by the Socie...

Dermatology clinical case

Allergic contact dermatitis (ACD) is a delayed hypersensitivity reaction. ACD’s incidence increases with age and rarely presents in the first year of life. Diagnosis of ACD is suspected based on a detailed history and physical examination and confirmed with patch testing. Avoidance of allergen(s) involved is essential for symptom control. The authors present a case of ACD associated with multiple allergens mani...

Adverse Events in Long-Course Intravenous Antibiotic Therapy for Pediatric Oste...

Background: Osteoarticular infections are commonly treated with long-course intravenous antibiotic therapy, leading to prolonged hospital stays. The aim of our study was to describe adverse events, namely adverse drug reactions, catheter associated complications and nosocomial infections, in paediatric patients treated for osteoarticular infections. Methods: Retrospective observational and analytical study of p...