Fatal haemophagocytic syndrome

A fulminant clinical presentation with high fever and hepatosplenomegaly, together with a course of worsening pancytopenia, coagulopathy and liver failure, is suggestive of the haem syndrome (HPS). Bone marrow examination is diagnostic. We present 3 cases of HPS associated with different aetiologies including acute Ebstein Barr virus infection, T cell lymphoma, and malignant histiocytosis. In all the cases, the diagnosis was made late and the patients succumbed before definitive therapy could be administered.     

Goldenhar's syndrome: case report

A case of Goldenhar's Syndrome (oculoauriculovertebral dysplasia) in a 3-day-old Nigerian neonate with right anophthalmos and lipodermoid, left limbal dermoid, bilateral preauricular appendages and mandibular hypoplasia is presented. The lipodermoid was attached to the tarsal conjunctiva of the lower lid of the anophthalmic side. The causative factor was presumably maternal drug (traditional medicine) ingestion at three months gestation. No similar case has been reported previously. The literature on Goldenhar's Syndrome is briefly reviewed.     

Acro-dermato-ungual-lacrimal-tooth syndrome: case report

Acro-dermato-ungual-lacrimal-tooth syndrome （ADULT syndrome, OMIM 103285） is a rarely seen ectodermal dysplasia disorder first described by Propping and Zerres in 1993. ADULT syndrome is known as an autosomal dominant disorder. Only a family constellation and four independent cases were reported worldwide up to now. Here, we report a case of ADULT syndrome, which is the first case reported from China.     

Peutz-Jeghers syndrome: case report

A case of Peutz-Jeghers syndrome (PJS) in an African girl is presented to document the clinical presentation, management and follow up of this condition. The patient who presented with black buccal mucosal hyperpigmentation and clinical features of jejuno-jejunal intussusception was successfully managed by operative reduction of the intussusception and polypectomy. She is being followed up for evidence of malignant transformation in associated intestinal polyps and development of extra-intestinal malignancies at other sites. The management of PJS in light of recent trends is discussed, especially with reference to suggested protocols for screening and surveillance of sites at supposed risk of tumour development.     

Rosai-Dorfman syndrome: a case report

A 30-year-old woman presented with multiple swellings in the neck associated with febrile illness of 3 months' duration. She also complained of nasal blockade. The swellings were non-tender, non-matted with about 4-5 cm in size. CT scan of nose and paranasal sinuses revealed a mass in the right nasal cavity. Histopathology from cervical lymph nodes which showed large clusters of mononuclear foamy histiocytes-emperipolesis of lymphocytes or lymphophagocytosis was seen in some cells. The patient was treated with antibiotics and prednisolone.     

Kleine-Levin综合征1例报告

Kleine-Levin综合征(Kleine-Levin syndrome,KLS)又称为反复发作性过度睡眠、周期性过度睡眠、嗜睡贪食综合征,是一种罕见的以周期性过度睡眠为特征的疾病[1-2].我院2009年收治1例罕见KLS患者,现对其病例资料进行回顾,并对相关文献进行复习.     

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).     

心电图Brugada征1例

1病例报告男 ,37岁. 因声嘶1 mo于2004-09住院. 查体T37℃, P 85/min, R 20/min,BP 16/10 kPa,双肺呼吸音清,无罗音,各瓣膜区未闻及病理性杂音. 血脂、血糖、血电解质,心肌酶谱,肌钙蛋白均正常. X线胸片及超声心动图正常. 纤维喉镜示:喉室口处可见一黄白色磨牙状新生物,发生时双侧声带运动可,闭合欠佳. ECG 示窦性心律,心率平均68/min,PR间期0.16 s,STV1呈下斜型抬高,STV2呈马鞍型抬高,TV1V2倒置,Q-T 0.34 s其余导联无异常. 有DU病史,否认有晕厥史及冠心病和高血压病史,家族无晕厥,猝死病史. 入院后3 d在全麻支撑喉镜下行喉新生物摘除术,术中顺利,住院6 d出院.     

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.     

Plummer Vinson syndrome: case report

Plummer Vinson syndrome is characterised by dysphagia, iron deficiency, anaemia and oesophageal web or webs. This is a case report of a 33 year old Asian female who presented with slowly progressive dysphagia and a long history of iron deficiency anaemia. The anaemia was confirmed on repeated haemograms and a barium swallow revealed an upper oesophageal web. Upper gastrointestinal endoscopy and forceful dilatation were necessary to effect relief of dysphagia.     

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.     

Osmotic demyelination syndrome: case report

We present a 40 year old man who was admitted to the hospital with convulsions. His final diagnosis was osmotic demyelination syndrome (ODS). We discuss the diagnostic and management challenges and the possible complications of this rare diagnosis.