５p欠失症候群

BACKGROUND: Postoperative pyoderma gangrenosum (PG) is a rare neutrophilic dermatosis frequently misdiagnosed as wound infection, leading to unnecessary surgical debridement and potential worsening of tissue destruction through pathergy. Pediatric PG is rare, accounting for <4% of cases and is often diagnostically underrecognized, with reported delays of approximately two months. CASE PRESENTATION: We report the case of an 8-year-old girl with Cri-du-chat syndrome who developed postoperative PG following femoral and pelvic osteotomy. Initial wound deterioration was attributed to infection; however, persistently sterile cultures and compatible histopathological findings as well as clinical presentation led to the diagnosis of PG on postoperative day 28. Following high-dose corticosteroids, a pedicled anterolateral thigh (ALT) flap was successfully used to reconstruct the resulting groin defect on postoperative day 41. DISCUSSION: This case underscores the diagnostic challenges of postoperative PG in the pediatric population following orthopedic surgery. It further suggests that pedicled flap reconstruction may be a feasible option following disease stabilization under continued immunosuppressive therapy. CONCLUSION: Early recognition of postoperative PG is essential to avoid potentially harmful debridement and enable timely immunosuppressive therapy, allowing safe reconstructive intervention following disease stabilization.

BACKGROUND: Sleep disorders are increasingly recognized in individuals with Cri-du-Chat (CdC) syndrome, yet most available data focus on pediatric populations. The present study investigated the prevalence, characteristics, and potential determinants of sleep disturbances in adults with CdC syndrome using standardized and validated scales and questionnaires. Findings were also compared with previously published pediatric data to explore developmental trajectories and persistence of sleep problems into adulthood. METHODS: Adults (≥18 years) with genetically confirmed CdC syndrome were recruited through the Italian Associazione Bambini Cri du Chat ONLUS (A.B.C.). Between September and October 2025, caregivers completed a structured questionnaire comprising general demographic and clinical data, and four standardized sleep assessment instruments: the Pittsburgh Sleep Quality Index (PSQI), Insomnia Severity Index (ISI), Epworth Sleepiness Scale (ESS), and the Sleep Questionnaire for Children with Severe Psychomotor Impairment (SNAKE). RESULTS: Seventy adults (median age 31 years) were included. Poor sleep quality and insomnia symptoms were detected by using PSQI and ISI in 49% and 35.7% of participants, respectively. According to SNAKE results, disturbances in sleep maintenance were the most frequent (47.1%), followed by sleep-onset difficulties (25.7%) and daytime sleepiness (22.9%). A large proportion of participants with SNAKE scores suggestive of a clinically relevant sleep problem had never undergone a formal diagnostic evaluation for a sleep problem, highlighting a potential gap in clinical recognition. After adjustment for age, sex, and degree of intellectual disability, older age was independently associated with poorer overall sleep quality, greater insomnia severity, and increased daytime sleepiness, while epilepsy was independently associated with greater daytime sleepiness, and severe intellectual disability was associated with more pronounced daytime behavioural disturbances. CONCLUSIONS: Sleep problems are common yet underdiagnosed in adults with CdC syndrome, often persisting from childhood into adulthood. These findings emphasize the need for systematic sleep screening and multidisciplinary management in this population, integrating behavioural, neurological, and environmental factors.

This case highlights a novel association between cri du chat syndrome (CdCS) and diffuse alveolar hemorrhage (DAH), a life-threatening pulmonary complication not previously reported in the literature. It emphasizes the importance of considering DAH in pediatric patients with genetic disorders presenting with recurrent hemoptysis and anemia. Early recognition, comprehensive evaluation, and multidisciplinary management are crucial for improving outcomes. This report expands the clinical spectrum of CdCS and urges heightened awareness among pediatricians and pulmonologists.