Gardner综合征1例报道

患者女性,17岁,主因“间断腹痛腹泻半年,加重1月余“以“结肠多发息肉“收入院,患者半年来反复出现腹痛腹泻,排便后腹痛可缓解。1个半月前结肠镜发现结肠多发息肉,病理显示管状腺瘤。患者10岁时起发现躯干四肢多发皮脂腺囊肿(经病理证实)。入院前1个月因腹腔肿物行剖腹探查术,探查显示腹腔内巨大肿物,直径     

Gardner综合征1例报道

Gardner综合征是家族性腺瘤性息肉病一种亚型,比较罕见,人群发病率为1／70001／5000。它是一种多发性良性肿瘤为主,并以易于癌变的结肠息肉为特征的遗传性疾病。     

Gardner综合征1例

患者,女,53岁.2年前在进食后2h出现上腹部饥饿样不适,不伴有疼痛,食用数块饼干等食物后,症状可缓解,但与所进食物无关.先后多次行胃镜检查诊断为多发息肉入院.查体:上腹剑突下深压痛,无反跳痛,未及包块,背部及四肢皮下散在花生米样大小结节,质韧,可推动,边界清,表面光滑,与皮肤无粘连.胃镜检查示胃多发息肉,全胃呈弥漫性,直至十二指肠第二段,上消钡透:胃多发息肉,全胃多发息肉.诊断:胃多发性息肉、多发性脂肪瘤(皮肤).行全胃切除,十二指肠息肉摘除食道空肠Roux-en-y吻合术,术后8d全身多处皮下肿块明显缩小,质地变软,原因待查.     

Gardner氏综合征1例报告

Gardner氏综合征是一种特殊类型的家族性多发性结肠息肉病。自Gardner氏于1953年首次描述其特征以来,国外对该综合征进行了大量的研究。本院自1965～1981年21年间,共收治多发性结肠息肉病30     

Gardner综合征一例

Gardner综合征系一罕见的具有结肠多发性息肉,伴有骨骼及软组织良性肿瘤的三联症。现报告一例如下: 陈××,男,27岁,住院号67795。因反复腹泻8年入院。患者自幼于全身皮肤好散发绿豆大的软性小隆起,无红肿热痛,每于挤出白色糊状物后消失,但此起彼伏且可长大。几年来先后于面部,右肩及左大腿外侧切除过鸡旦黄大的软性包块3个,病理诊断为脂肪瘤。8年来无何原因进食后有左中、下腹部隐痛伴腹泻,每日糊状便-3次,无脓血粘液及里急后重,便后腹痛缓解。约2-3个月发作一次,偶有便秘,从未检查与治疗。其姐姐因有类似症状     

Gardner综合征一例报告

患者,男,49岁,因间断上腹胀痛5年,加重1个月入院。患者于5年前无明显诱因出现上腹部胀痛不适,为饥饿痛,进食后略可缓解,无放射痛,伴有反酸,乏力;大便正常,无消瘦。曾在外院行胃镜示：十二指肠球部溃疡、慢性萎缩性胃窦炎。间断服用＂奥美拉唑、兰索拉唑、猴头健胃丸＂等药物,     

Kallmann综合征1例报道

Kallmann综合征因下丘脑及嗅叶发育不全导致垂体、卵巢功能不全而引起的一系列临床症候群，表现为原发性闭经、性器官发育不良及嗅觉障碍等，临床较少见，笔者诊治了1例患者。现报告如下：患者女性20岁，因原发性闭经咨询是否有生育可能而就诊。查体：五官外形正常，女性表征，乳房发育不良，嗅觉障碍，仅闻及浓氨水。追问病史家族中无类似病患者。妇科检查示：外阴呈幼稚型，阴毛少，肛诊子宫狭长，明显较小。B超示：幼稚子宫，     

Rett综合征1例报道

现将1例Rett综合征报道如下：1临床资料患儿,女,1岁7个月。因智能动作发育倒退,伴双手拧绞样动作8个月入院。G1P1,足月顺产,无外伤史。母乳喂养,满月会笑,3个月翻身,6个月会坐并能分辨陌生人、熟人，7个月可发“打、拿”等单音和“爸爸、妈妈”复音．并双手抓、握及交换玩具灵活，10个月可扶物站立及行走。近8个月来（即患儿11个月后）出现智能及动作发育倒退，表现为注意力不集中，失去应人能力，对外界声、光等刺激不应答，遗忘了已经会说的“爸爸、妈妈、打、拿”等简单词语。     

Prader-Willi综合征1例报道

Prader-Willi综合征为染色体微小缺失、15q11-13缺失,可表现为严重肌张力低下、喂养困难、过食、逐渐发生病态的肥胖、性发育不良、认知和行为障碍,半数患儿可无特殊面容. 本病大部分为新生突变,发病率低,临床表现不典型,容易漏诊,需要行染色体检查或分子遗传学检查确定诊断.     

华法林综合征1例报告

1 临床资料患儿男,2岁,因"生长和智力落后2年"入院.患儿系第2胎第2产,第1胎健康.患儿孕40 2周,顺产出生;Apgar评分:1 min 8分,5 min 10分;出生体质量2.6 kg,身长48 cm.半岁始抬头平稳,1岁半能独坐,现能扶站、扶走,能指认五官,仅会说"爸爸""妈妈"复音.     

Carpenter syndrome: a case report

Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, congenital heart disease, cryptorchidism, hypogenitalism, bony abnormalities and umbilical hernia. Carpenter syndrome is autosomal recessive disorder and prenatal diagnosis of this syndrome is possible by ultrasonogram during pregnancy. We reported a case of carpenter syndrome of 2.5 months old female infant of consanguineous parents who was admitted in the paediatric ward of Bangabandhu Sheikh Mujib Medical University (BSMMU) on 30th March 2010. She was diagnosed as a case of Carpenter syndrome having acrocephaly prominent ridge of sagital suture, polydactyly, syndyctyly on history, clinical examination findings and investigation reports.     

Werner综合征1例

患者,女,43岁,因血糖升高6年,左足肿痛伴皮肤溃破3 d入院.6年前因左足趾化脓门诊治疗2周仍不愈,查血糖17 mmol/L,诊断为糖尿病,口服降糖药效果差,5年前改用胰岛素治疗,近1个月来予诺和灵50 R 85U/d及吡格列酮15 mg 1次/d,血糖控制尚可,间有四肢末端麻木,行走数步后足底疼痛,3 d前不慎刮破左足第二趾背皮肤后出现血性渗出液,并逐渐出现左足背、左下肢肿痛,2008年11月25日外科就诊给予青霉素治疗,效果欠佳.     

Joubert syndrome: a case report

Joubert syndrome is a very rare disorder characterised by respiratory irregularities, saccadic eye movements, hypotonia, ataxia, developmental retardation with abnormalities of cerebellum and brainstem. Epilepsy is rarely associated with this syndrome. Herein such a case with associated epilepsy is presented. Here in this case, a male child of 4 years was presented with delayed milestones and generalised tonic-clonic seizure. Pregnancy and prenatal period was uneventful. There was history of one of his siblings having the disorders of respiratory irregularities, saccadic eye movements, ataxia, hypotonia, etc (same as the child) and died at 3 1/2 years of age. MRI brain showed features of Joubert syndrome.     

Bouveret syndrome: a case report

Bouveret syndrome is characterized by the migration of a gallstone through a cholecystenteric fistula into the proximal duodenum resulting in gastric outlet obstruction. Bouveret syndrome is a rare phenomenon that most commonly occurs in females and the elderly. A 79-year-old female presented with symptoms of gastric outlet obstruction and was diagnosed with Bouveret syndrome. This report describes the symptoms, diagnosis, and management of Bouveret syndrome, as well as its prevalence and differentiation from gallstone ileus. Patients with Bouveret syndrome present with varied, non-specific symptoms that may include emesis, abdominal pain, anorexia, and abdominal distention. Computed tomography remains the diagnostic modality of choice. Although different techniques are reported, surgical intervention is almost always required in the treatment of Bouveret syndrome.     

Hallermann-Streiff syndrome: a case report

Hallermann-Streiff syndrome （HSS） is a rare syndrome primarily affecting the head and face.As a result of many life-threatening complications, such as respiratory and cardiac difficulties,2 many patients die in infancy. Here, we report a 44-year-old patient with this syndrome who underwent phacoemulsification and piggyback intraocular lenses （IOLs） implantation in both eyes to improve visual function.     

Churg-Strauss syndrome: a case report

A fifty-year-old female presented with a one month history of progressive dyspnea, productive cough, pain of elbows and knees, and 40°C fever despite antibiotic treatment. She has been diagnosed of bronchial asthma over 25 years before admission and oral and depot glucocorticosteroids as a long-term therapy was applied. Recently, an attempt of inhaled corticosteroids and LABA treatment was introduced with no success. Four years before admission she also developed peripheral neuropathy. Physical examination revealed tachypnea, wheezes, rhonchi and wet cracles on auscultation, tachy?cardia, skin nodules, urticarial rash and necrotic bullae all over the body. Chest X-ray showed transient, patchy, nonsegmental areas of consolidation with predilection for lower zones with the area of consolidation in lower left zone. Obstruction was found on spirometry. Tachy?cardia on ECG and myocardial fluid on ECHO were also detected. Lab exams revealed elevated CRP, WBC, eosinophils, and IgE levels. ANA and ANCA antibodies were not found. Patient was diagnosed of Churg Strauss Syndrome and initial treatment of prednisone was introduced. After four days of treatment, temperature normalized, and dyspnea diminished. After one month of therapy skin lesions regressed. After 18 months of the treatment patient reports no signs, nor symptoms of the disease. Patient continues oral corticosteroid therapy.     

MAGIC综合征1例报告

1 病例资料 男,43岁,口腔和生殖器阿弗他溃疡、复发性前葡萄膜炎以及多关节炎反复发作3年余,针刺反应阳性.患者因“口腔溃疡反复发作”于2016年3月22日就诊于我院门诊,就诊时诉右侧耳郭软骨红肿伴疼痛,无蚊虫叮咬史、无咳嗽及呼吸困难.诊断考虑MAGIC综合征.接受沙利度胺、白芍总苷胶囊及秋水仙碱片等药物治疗,并安排入院行进一步检查.1周后,患者出现右侧耳郭炎症伴疼痛加重(图1A)及口腔溃疡复发(图1B).