Pediatric Reports

Background: Tetrasomy X (48, XXXX) is an extremely rare sex chromosome aneuploidy characterized by highly variable phenotypic manifestations. It includes various medical issues, a wide range of developmental delays, and neurocognitive deficits. Methods: The present case report provides a comprehensive neurodevelopmental profile of a 4.5-year-old girl with Tetrasomy X, with the aim of contributing to phenotype delineation, exploring genotype–phenotype associations, and emphasizing the importance of early, targeted intervention. A multidisciplinary assessment was conducted, encompassing cognitive, speech–language, motor, sensory, adaptive, and socioemotional functioning, using a battery of standardized and culturally adapted instruments. Results: Results revealed borderline intellectual functioning and mild global developmental delay, with marked intra-individual variability across domains. Motor development was significantly delayed and speech and language assessment demonstrated a pronounced receptive–expressive discrepancy. Sensory processing evaluation revealed a pattern of global sensory under-responsiveness, representing a novel and underreported feature in Tetrasomy X. Adaptive functioning was uneven, with relative strengths in daily living skills and weaknesses in motor abilities. Conclusions: This detailed early developmental characterization highlights the heterogeneity of Tetrasomy X and challenges some of the previous assumptions. The findings underscore the necessity of individualized, multidisciplinary assessment and early intervention to optimize developmental outcomes and quality of life in affected individuals.

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Background: Hydatid disease poses unique management challenges in pediatric populations due to developing anatomy and growth considerations. This systematic review evaluates the efficacy and safety of medical, surgical, and combination therapies for pediatric hydatid liver disease. Methods: A comprehensive search of PubMed, Scopus, Web of Science, and Cochrane Library from inception to January 2025 identified studies investigating treatment outcomes in pediatric hydatid liver disease. Data was synthesized through qualitative analysis of treatment effectiveness, complications, and patient outcomes. Results: Fifteen studies were included, comprising controlled trials, cohort studies, and cross-sectional studies. Treatment efficacy correlated significantly with cyst size: small cysts (<5 cm) responded well to albendazole monotherapy (88.3–97.6% success at 6–12 months); medium-sized cysts (5–6 cm) benefited from percutaneous interventions (PAIR) with 97.1% technical success; large cysts (>6 cm) required surgical management. Laparoscopic approaches demonstrated advantages over open surgery, including shorter hospitalization (5.6 ± 2.2 vs. 12.1 ± 1.5 days) and reduced analgesic requirements. Omentoplasty emerged as superior for residual cavity management with fewer complications than tube drainage approaches. Conclusions: This review supports personalized treatment algorithms based primarily on cyst characteristics. The findings recommend standardized protocols incorporating cyst size, location, and complexity as key decision points, with expanded access to minimally invasive techniques. Future research should focus on prospective comparative studies with standardized outcome measures.