先天異常症候群

Charcot-Marie-Tooth syndrome type X1 (CMTX1) is an inherited motor and sensory neuropathy caused by mutations in the GJB1 gene located in the X chromosome. Although uncommon, stroke-like episodes have been reported in patients with CMTX1, typically triggered by stress and characterized by distinctive magnetic resonance imaging findings with complete spontaneous resolution. We report the case of a 13-year-old boy with CMTX1 and no prior neurological symptoms who developed right hemiparesis, dysarthria, and facial deviation following a wasp sting. After activation of the stroke code, brain magnetic resonance revealed bilateral hyperintense lesions in the centrum semiovale without evidence of thrombosis. To our knowledge, this is the first paediatric case of CMTX1 in which an insect sting acted as a trigger, mimicking stroke. Prompt activation of stroke protocols and neuroimaging is essential to establish the diagnosis and exclude other conditions.

INTRODUCTION: Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder caused by defective ciliary structure and function, leading to chronic respiratory and systemic manifestations. Diagnostic pathways have evolved over time, but no single standalone test exists. METHODS: Retrospective study of PCD patients followed at a Portuguese tertiary hospital, between 2001-2024. RESULTS: Thirty-five patients with a confirmed diagnosis were included: 13 children and 22 adults. Median age at diagnosis was 7 years (0-16) in children and 38.5 years (12-64) in adults. Time to diagnosis decreased over the years, coinciding with a shift in the hierarchy of methods from high-speed video microscopy and transmission electron microscopy to genetic testing. The most frequent mutations were DNAH5 (31.3%) and DNAH11 (12.5%). Pulmonary function tended to be better in children (p = 0.085), whereas bronchiectasis were more extensive and bilateral in adults (p = 0.044 and p = 0.002, respectively). Children more frequently received treatment with hypertonic saline (p = 0.003) and adults with bronchodilators (p = 0.035). Pseudomonas aeruginosa was only identified in adults; inhaled antibiotics were only prescribed in this age group (18.2%). CONCLUSION: This represents the largest Portuguese cohort to date and provides relevant clinical and diagnostic insight into age-related differences, supporting the importance of early detection and intervention to limit lung damage.

BACKGROUND: CHARGE syndrome is a rare congenital genetic disorder caused by variants in CHD7 gene. The acronym "CHARGE" represents its primary features: coloboma of the iris or retina, heart defects, choanal atresia, retardation of growth and development, genital anomalies, and ear anomalies including hearing loss. Craniofacial and oral abnormalities are a significant component of its clinical spectrum and often complicate conventional dental care, necessitating reliance on pharmacological behavior management techniques. CASE REPORT: We report the case of a 4-year-old boy with CHARGE syndrome who underwent full-mouth dental rehabilitation under general anesthesia. Owing to extensive dental disease, anticipated airway difficulty, and multiple systemic comorbidities, comprehensive multidisciplinary planning and specialized anesthetic management were undertaken. Treatment was completed successfully, with improved oral function and quality of life at follow-up. CONCLUSION: This case underscores the importance of meticulous treatment planning, specialized airway management, and perioperative monitoring, as well as the value of an interdisciplinary team in ensuring safe and effective care. To our knowledge, this is one of the few reports detailing the dental and anaesthetic considerations and management strategies for a child with CHARGE syndrome.

Objective: To analyze the clinical characteristics of pregnant women with different risk factors of Stanford type A aortic dissection (TAAD), so as to provide evidence for early warning and stratified management. Methods: A total of 42 pregnant or puerperal women with pregnancy-associated TAAD admitted to Beijing Anzhen Hospital, Capital Medical University from January 2010 to May 2026 were retrospectively enrolled. They were divided into three groups according to risk factors: Marfan syndrome (MF) group, hypertension (HBP) group, and non-identified high-risk factor (N) group before TAAD onset. The onset characteristics, aortic diameter and maternal-fetal outcomes were compared among the three groups. Results: All 42 patients with TAAD underwent aortic surgery, and 4 cases (10%, 4/42) died. The neonatal survival rate was 100% (26/26) in pregnant women with onset in the third trimester of pregnancy, while the fetal loss rate reached 6/9 in those with onset in the second trimester. Typical clinical symptoms, such as sudden severe tearing or knife-like chest and back pain, with or without radiating pain were observed in 74% (31/42) of patients. There were 10 cases (24%) in the MF group, 12 cases (28%) in the HBP group, and 20 cases (48%) in the N group. The median aortic root diameter was 38.5 mm (31.0, 48.3 mm) in the HBP group, which was significantly smaller than 51.5 mm (43.5, 63.5 mm) in the MF group and 50.5 mm (44.5, 67.0 mm) in the N group (all P<0.05). No statistically significant difference was detected between the MF group and the N group (P>0.05). In the HBP group, 6/12 of pregnant women had an aortic root diameter less than 40 mm, whereas all patients in the MF group and N group had an aortic root diameter of 40 mm or above. The mortality rates of TAAD in MF group, HBP group and N group were 1/12, 0/10 and 15% (3/20), respectively, and the live birth rates were 10/12, 10/11 and 71% (15/21), respectively, without statistically significant differences among groups (all P>0.05). Conclusions: Pregnancy-related TAAD is fundamentally based on underlying aortic structural abnormalities. Hypertension could lower the critical aortic diameter for dissection. Occult aortic lesions are common in TAAD patients without risk factors. It is suggested that aortic ultrasound screening should be advanced to pre-pregnancy or early pregnancy, and more active monitoring and intervention strategies should be taken for hypertensive patients with aortic lesions.

Sleep is fundamental to the welfare of all animals, including dogs. Various important processes take place during sleep, and while complete sleeplessness leads to death, sleep fragmentation is also harmful. Brachycephaly, the severely shortened snout and skull in the absence of a concurrent decrease in the volume of the soft tissues of the upper airways, causes many welfare concerns, including sleep-disordered breathing (SDB). In obstructive SDB, the most common form of SDB in dogs, repeated episodes of partial or complete blockages of airflow occur during sleep. This leads to intermittent hypoxemia. Sleep-disordered breathing resembles obstructive sleep apnea in humans, which is associated with various comorbidities and a higher mortality rate. Intermittent hypoxemia is associated with chronic low-grade inflammation, an independent risk factor for a higher mortality rate in people. Research into SDB in dogs has been limited, largely due to arduous diagnostic methods, but in recent years, new developments have taken place. Risk factors for SDB include brachycephaly, moderate or severe signs of brachycephalic obstructive airway syndrome, and excess weight. As SDB negatively affects welfare on multiple levels and is at least partly treatable with surgical and conservative methods, easier methods are needed to diagnose the individuals in need of treatment. On a population level, the future of brachycephalic breeds needs to be critically evaluated.