Paraganglioma of urinary bladder: report of two cases

BACKGROUND: Extra-adrenal pheochromocytoma is a rare entity. Its occurrence in the urinary bladder has only been reported less than 200 times. AIM: Report 2 news cases CASES REPORT: Here we present two case reports of bladder paraganlioma with an update of the diagnostic techniques, treatment modalities and follow-up of patients with this disease. The common presentation of paraganglioma of the urinary bladder is painless haematuria, headache, palpitation and anxiety. Treatment of this lesion requires the same preparation as for any other site of pheochromocytoma. Partial cystectomy ensures radical and effective treatment. Long-term surveillance is necessary as recurrences or metastases have been described 20 and 40 years after treatment.     

Intrahepatic portal vein aneurysm: report of two cases

We present two cases of intrahepatic portal vein aneurysm. The lesions were seen as low density mass on precontrast CT, hypoechoic mass with connecting vascular structures on ultrasonogram and dilatated branch of portal vein on MRI. Definite diagnosis were obtained by arteriogram. Only 15 cases of portal vein aneurysm were reported in Japan up to now in the literature.     

Kala-azar in Zambia: first report of two cases

Two autochthonous cases of kala-azar, the first such report of the disease from Central and Southern Africa, are described. Both patients presented with generalized macules, papules and nodules without ulceration and both also had tuberculosis. Amastigotes were cultured from blood and identified in skin, bone marrow, liver and spleen.     

Cohen综合征并文献复习

目的探讨VPS13B基因突变所致Cohen综合征患儿的临床特征及诊断特点，并进行相关文献复习，为Cohen综合征遗传咨询和诊断提供参考。 方法选择2019年1月，于中山大学孙逸仙纪念医院儿科确诊为Cohen综合征的2例患儿(患儿1、2)为研究对象。采用回顾性分析方法，收集2例患儿的临床病例资料，并对其病史采集、相关检查结果进行分析。以"Cohen综合征""Cohen syndrome"为关键词，检索在线人类孟德尔遗传数据库(OMIM)、PubMed数据库、中国生物医学文献服务系统(SinoMed)、中国知网(CNKI)、万方数据知识服务平台、维普中文科技期刊数据库中Cohen综合征相关文献，检索时间设定为1973年1月1日至2019年1月1日。本研究符合2013年修订的《世界医学协会赫尔辛基宣言》要求，并且征得受试儿家属(父亲、母亲及表叔)知情同意。 结果①患儿1病史采集：男性，4岁3个月，主要临床表现为精神运动发育落后、小头畸形和身材矮小。相关检查结果：血常规检查结果提示中性粒细胞计数减少；听性脑干反应(ABR)检查提示左侧听觉传导通路损伤，双侧听觉反应阈值可疑范围；双眼视觉诱发电位(VEP)检查未见异常；脑电图正常；头颅MRI平扫提示双侧额部脑外间隙稍增宽；全脊柱正侧位X射线摄片提示右侧轻度髋发育不良伴右髋关节半脱位可能；腰椎轻度左侧弯，疑为双髋关节不对称所致；心电图、心脏彩色多普勒超声检查和染色体核型分析均未见异常。②患儿2病史采集结果：患儿1胞弟，男性，1岁4个月，亦表现为精神运动发育落后，小头畸形和身材矮小。相关检查结果：双耳ABR正常；VEP检查提示右眼F-VEP P2波潜伏期稍延迟，振幅正常；脑电图正常；头颅MRI平扫未见异常；全脊柱正侧位X射线摄片、心电图、心脏彩色多普勒超声检查和染色体核型分析均未见异常。③患儿1、2遗传性疾病大家系全外显子组检测提示，2例患儿均携带VPS13B基因2个杂合病理性突变，即VPS13B[8q22 NM_017890.4 Intron50 c．9259-1G>C][8q22 NM_017890.4 Exon57 c．11104_11105de1]基因突变，这2个基因突变位点目前均尚未见文献报道。 结论Cohen综合征为一种罕见常染色体隐性遗传性疾病。临床上对于特殊面容、生长发育落后、高度近视、弱视和色素性视网膜病变伴中性粒细胞减少症的患儿，应考虑到Cohen综合征的可能性，并进行基因检测，以及时确诊Cohen综合征。     

Malignancy arising in seborrheic keratosis: two cases report

Seborrheic keratosis are one of the most common benign epidermal tumors encountered in clinical practice. Malignant transformation is exceptional. It may occur by the involvement of human papilloma virus. We report two cases of seborrheic keratosis in respectively 58 and 60-years-old women, which, on biopsy, revealed the presence of Bowen's disease for the former and Squamous cell carcinoma for the later.     

Rhabdomyolysis in presumed viscero-cutaneous loxoscelism: report of two cases

Until now, in viscero-cutaneous loxoscelism, discoloured urine has been attributed only to haemoglobinuria induced by the intravascular haemolysis caused by the venom. In this paper, 2 cases (in Brazil) of viscero-cutaneous loxoscelism with rhabdomyolysis and acute renal failure are described. Both patients presented with severe oedema, erythema and dermonecrosis at the bite site. Elevated creatine kinase levels were found in both cases (6841 and 1718 U/L) associated with severe acute renal failure (one required dialysis for 50 days). Therefore, in viscero-cutaneous loxoscelism, rhabdomyolysis secondary to intense local tissue damage can occur and should be considered as a contributing factor in acute renal failure. Creatine kinase should therefore be monitored in viscero-cutaneous loxoscelism to avoid acute renal failure and to reduce the severity of any renal damage.     

Rhino-orbital-cerebral mucormycosis--a clinico-pathological report of two cases

Rhino-orbital-cerebral mucormycosis is an acute fungal infection of the oropharynx, paranasal sinuses, orbit and intracranial structures. It is rare, occurring mainly in diabetics in ketoacidosis. The clinical presentation is highly suggestive of the diagnosis. Current treatment has resulted in a greatly improved prognosis for survival and clinical awareness of this disease is important for early initiation of treatment with optimal effect. A clinico-pathological report of two cases is presented.     

Occupational absorption of tellurium: a report of two cases.

Industrial uses of tellurium are limited, and reported cases of tellurium absorption of occupational origin are rare. Two such cases are reported here. Both showed typical signs and symptoms of intoxication; in particular, the stench of sour garlic was noted on breath and from excreta. An unusual feature was the bluish-black discoloration of the webs of the fingers and streaks on the face and neck. Full hospital investigation was negative. No permanent damage resulted and each patient made a spontaneous recovery without treatment.     

Intradiploic hematoma: report of two cases and review of literature

Diploic hematoma is an uncommon lesion which develops generally after minor head trauma. Only seven cases have been published so far and we are reporting two new cases of diploic hematoma in infancy. The diagnosis was made by computerized tomography and confirmed by histology. Diploic hematoma should be considered as part of the differential diagnosis in case of with a diploic lesion.