We report an 18-month-old Charcot-Marie-Tooth type 1A (CMT1A) patient who developed a rapid-onset neuropathy, with proximal and distal weakness, and non-uniform nerve conduction studies. The neuropathy responded well to immunomodulation, confirming the coexistence of an inherited and an inflammatory neuropathy. Unexpected clinical and/or electrophysiological manifestations in CMT1A patients should alert clinicians to concomitant inflammatory neuropathy. In addition, this association raises reflections about disease mechanism in CMT1A.
Few data are comparing chronic spontaneous urticaria (CSU) in children and adults. Balp et al 1 conducted an important online survey in five different European countries, with physicians that had seen at least one pediatric patient with CSU in the last 12 months. Their results suggest that the prevalence of chronic urticaria and CSU in children is similar to that observed in adults.On the other hand, they showed that there is a lower prevalence of angioedema in pediatric populations when compared to adults.They also highlight treatment patterns among this population indicating that a significant proportion of these patients are treated with H1-antihistamines, but around 1/3 of them are refractory to higher doses.We conducted a retrospective analysis of medical records of patients treated at a center of excellence and reference in urticaria (UCARE) from April 2016 to June 2017. Disease characteristics and treatment patterns and response in children were compared to adults. The study was approved by the Ethics Committee, who waived the consent from patients, as it was a retrospective chart review.A total of 113 patients with CSU between 4 and 76 years of age were evaluated, 31 of whom were children (aged 0-17 years). There was a higher prevalence in females in both groups, in a ratio of 5.8:1 in adults and 1.6:1 in children. In contrast to Balp et al, 1 most of our pediatric patients had angioedema (58%), and its presence was not related to disease duration or severity based on clinical criteria and urticaria activity score in 7 days (UAS7). Similar results were observed in adults. On the other hand, the length of the disease was on average longer in adults (310 weeks) than in children (170 weeks), but the more prolonged disease was associated with severity in neither group.The presence of comorbidities such as atopy and autoimmunity was assessed, based on clinical history and the presence of laboratory markers (ANA and thyroid autoantibodies), respectively. Atopy was more prevalent in children (58%) than in adults (23%; P < 0.05), but there was no significant difference in autoimmunity prevalence between adults and children (21.9% and 29%, respectively).Nonsteroidal antiinflammatory drugs (NSAIDs) is the leading cause of drug hypersensitivity reactions in our region, 2 and angioedema is the most frequent clinical manifestation. NSAIDs were associated with CSU exacerbations in up to 20% of patients, but more frequently in adults (25.6%) than in children (6.5%; P < 0.05).However, patients with angioedema were not at a higher risk of NSAID exacerbations. Urticaria treatment aims total symptom control (UAS7 ≤ 6). 3 In our study, children achieved better disease control (64.5%) when compared to adults (37.8%; P < 0.05). H1-antihistamines are recommended as first-and second-line treatment for CSU. 3 The majority of our pediatric patients (84%) are under treatment with an H1-antihistamine, but only 35% in licensed doses. Disease control was observed in 19% of children and 16% of the adults treated with these doses. Hi...
RATIONALE: Drug hypersensitivity reactions (DHR) are a public health problem, but there are few studies in Brazilian pediatric population. This study analyzes and describes potential factors associated with severity of DHR in children. METHODS: Retrospective data analysis of 235 patients under 18 years old, evaluated in 8 specialized centers in Brazil, from 2009 to April 2018. Patients with a probable or confirmed diagnosis of DHR were included. Patients were classified according to characteristics of the reaction in nonsevere (only cutaneous manifestation), and severe (cutaneous manifestation and involvement of other organs or systems). A 5% level of significance was established. RESULTS: The majority of patients (235/262) had a probable or confirmed diagnosis of DHR, and in 39% the reactions were considered severe. Severity was significantly associated with an atopic background for patients presenting immediate reactions. Severe reactions were observed more frequently in older children (> _6 years). Fever or infectious disease was present in 59% of children at the time of reaction, and in 39% of them, the reaction was severe. NSAIDs were reported as the culprit drug in 59% of cases and beta-lactam antibiotics in 32%, but no drug class association with severity was observed. There were no significant differences in severity considering patient's gender and family history of DHR. CONCLUSIONS: Atopic children and patients older than 6 was associated showed a higher risk for severe DHR. Co-factors as infections and fever may also be involved in severity and more extensive studies would be useful to determine other factors.
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