弥漫性嗜酸性筋膜炎伴肌炎一例

患儿男 ,8岁。主因四肢僵硬 2月余于 1992年 11月 19日入院。半年前患儿受凉后开始间断发热 ,体温最高 3 9℃ ,予退热、消炎治疗后好转。 2个月前患儿出现双手指、手背皮肤僵硬、不能伸直 ,握东西困难 ,同时发现两臂部肌肉肿胀发硬 ,以肘关节以下僵硬明显 ,双足底发硬 ,走路多时足底部肿胀、小腿肚肿硬 ,膝关节以下僵硬显著。关节活动受限 ,但无痛感。近 1个月上述症状加重 ,并出现背部、胸前皮肤僵硬感。曾在外院按“风湿病”口服中药数月无效 ,收入我院。患儿自发病以来体重减轻约 4ｋｇ ,无吞咽困难及雷诺现象。无特殊既往史、个人史及家…     

儿童嗜酸性粒细胞增多症伴肾病综合征1例

患儿,男,7岁。因反复水肿伴腹痛、呕吐8 d,水肿加重2 d入院。患儿8 d前无明显诱因出现双眼睑水肿,伴咽痛、腹痛,非喷射性呕吐,近2 d水肿加重,逐渐蔓延至四肢及腹部,无发热、寒战,无尿频、尿急、尿痛,精神、食纳可,小便为浓茶样,偶为洗肉水样,大便正常。既往有腹股沟斜疝手术史,对鸡     

运动性肌红蛋白尿1例

1 临床资料 患儿,男,12岁,以双下肢疼痛伴肉眼血尿1d为主诉入院.患儿入院前夜间出现肉眼血尿,呈酱油色,尿量减少,下肢肿痛,行走因难,无发热、皮疹、尿频、尿急、尿痛.     

高脯氨酸血症1例报告

目的探讨高脯氨酸血症的临床及基因突变特点。方法回顾分析1例I型高脯氨酸血症患儿的临床资料,并复习相关文献。结果患儿,男,7岁半,因行走不稳伴反复抽搐、行为异常就诊。血氨基酸及酯酰肉碱谱检测提示脯氨酸升高(2 951.52μmol/L),尿有机酸分析提示3-羟基丙酸、3-甲基巴豆酰甘氨酸、巴豆酰甘氨酸浓度增高。基因测序示PRODH存在c. 1073 CT、c. 857 CT两处杂合突变,经基因功能预测具有致病性,患儿确诊为高脯氨酸血症I型。结论对于不明原因发育落后伴癫痫发作、精神行为异常,且血脯氨酸水平升高者应高度怀疑高脯氨酸血症,尽早行基因检测确诊。     

Vaccine adjuvants and macrophagic myofasciitis]

Aluminium-based adjuvants have been used throughout the world since 1926, and their safety profile is such that they have long been the sole adjuvants registered for clinical use. Their safety has nevertheless been questioned in France over the last few years following the demonstration that aluminium could persist for prolonged periods at the injection site, within macrophages gathered around the muscular fibres and forming a microscopic histological lesion called "macrophagic myofasciitis (MMF)". This image has been observed in patients undergoing a deltoid muscular biopsy for diagnostic purposes of various symptoms essentially including muscular pain and fatigue, in association with a large panel of various symptoms and diseases, including those of an autoimmune nature. Studies of the clinical, biological and epidemiological characteristics undertaken to identify a possible association between the MMF histological image and a systematic disease have remained negative. As of today, available evidence indicates that although vaccine aluminium may persist at the site of injection for years ("vaccine tattoo"), this does not reflect the existence of a diffuse inflammatory muscular disease and is not associated with a specific clinical disease. The existence of sampling bias inherent to the complexity of the clinical and pathological diagnoses remains the most likely hypothesis.     

Oligodontia. A case report

"Oligodontia" is the absence of 6 or more teeth, except the third molars. Genetic factors are important in determining hypodontia: in fact, this is an autosomal dominant trait relatively common in population. In particular, the agenesis of lateral incisors is fairly common, with autosomal dominant and variable expression inheritance. The incidence of hypodontia in primary dentition is 0.1-0.7% and there is no difference between females and males; instead, hypodontia in permanent dentition is most common in females compared with males and the incidence is 6-10% in general population. Oligodontia can interfere with the maxillofacial skeleton growth in children and adolescents. This problem must be tackled by paying attention to the physical and psychological development of the patient. A case of oligodontia in an 8-year-old-boy without 17 permanent teeth likely related to a variable expression genetic disorder is reported. The medical examination of the boy was completely negative, with the exception of the dentition. The child will be followed to value any possible maxillofacial abnormalities that might need an early therapy. The definitive therapeutic approach will be carried out, as soon as possible, using oral endo-osseous systems to allow normal masticatory and phonetic function.     

Ectrodactyly. A case report

A case of ectrodactyly characterized by simple absence of the third finger of the right hand is reported. Clinical and genetic aspects are considered.