Shprintzen-Goldberg综合征1例报道并文献复习

目的　总结Shprintzen-Goldberg综合征的临床特点,提高对此病的认识。方法　总结深圳市儿童医院诊断的1例Shprintzen-Goldberg综合征临床资料,并查阅相关文献。结果　患儿,男,G2P2,足月顺产,无神经系统疾病家族史。孕产期正常,出生后肌张力低,目前运动发育落后,1岁,不会抬头,不会坐,不会爬,无抽搐。查体：特殊面容,长头畸形,前额突出,眼距增宽,浅眼眶,上腭狭窄,高颚弓,小下颌,心肺听诊未见异常,腹部查体未见异常,手指和脚趾细长。辅助检查：头颅MRI示双侧侧脑室增宽,略变形,以左侧侧脑室前角较显著,双侧脑室室管膜下囊肿,颅颈交界区枕骨大孔及下方椎管狭窄,椎管前后径约5 mm,颈髓呈受压表现。头颅CT提示颅缝早闭。心脏彩超提示房间隔左向右分流,大小约0.37 cm。染色体核型正常：46XY。全外显子测序提示：SKI基因c.100G>C突变,为错义突变。父母基因正常,为新发突变。根据美国医学遗传学与基因组学学会（ACMG）指南,该变异初步判定为致病性变异。查阅文献,患儿符合Shprintzen-Goldberg综合征的临床表现,基因相符,突变位点既往未报道过,但该突变位点在基因的功能区,结合蛋白功能预测软件,考虑为致病变异,加上临床表现,考虑该诊断。此疾病在中文文献未见详细的报道,为常染色体显性遗传病。主要表现为外貌的发育异常,可合并多系统的损害,表现为智力低下,颅缝早闭,四肢细长为主,类似马凡综合征。治疗以对症支持为主。结论　发育落后+颅缝早闭+类似马凡综合征表现应该考虑Shprintzen-Goldberg综合征可能,及时颅骨三维CT检查及完善基因检测明确诊断,早期干预改善预后。     

椎基底动脉扩张延长症一例并文献复习

椎基底动脉扩张延长症（VBD）是由先天发育、后天获得性因素或两种因素共同作用于椎动脉颅内段和（或）基底动脉,致其显著扩张、延长、迂曲、成角移位,或压迫周围神经或组织所引起的临床症状,为一种少见且病因不清的脑血管变异病。本文报告收治的1例频发头晕,主要临床表现为后循环梗死,以小脑、延髓为主,经严格检查后诊断为VBD的病例诊治情况,并进行相关文献复习。     

胰岛素瘤一例并文献复习

目的 总结分析胰岛素瘤的临床特点,探讨其诊断治疗方法.方法 对我院收治的1例胰岛素瘤患者的临床资料进行回顾性研究,并结合国内外有关文献报道进行分析.结果 该例胰岛素瘤患者有典型的Whipple三联征.血糖1.9～3.6 mmol/L,胰岛素释放指数＞0.3;腹部超声检查示胰腺区低回声结节,腹部CT检查示胰腺占位;剖腹探查结合B型超声检查示胰腺体部有直径约2.1 cm×1.0 cm结节.结论 典型的临床表现、B超及CT薄层扫描结合胰岛素水平测定是诊断胰岛素瘤的有效方法,外科手术切除肿瘤是治疗的有效手段.     

黏液纤维肉瘤复发一例并文献复习

1 病历资料 患者男性,85岁,半年前发现右肩部肿物,无疼痛、肿胀,未予重视.由于肿物进行性增大来院就诊.MRI表现:肿物位置较表浅,位于浅表肌肉间隙,大小为6.0 cm×7.2cm,分叶状,边界欠清;MRI平扫表现为等T1、长T2信号;MRI增强表现为明显不均匀囊状强化.手术所见右肩部肌肉间隙有一不规则肿物,呈分叶状,约6 cm×7 cm,与周围组织无明显粘连.临床考虑为软组织肿瘤,最终行“右肩部肿物局部切除术”,标本送检病理科,诊断为黏液纤维肉瘤.后又因“右肩部肿物切除术后1个月,复发10天”再次就诊于本院,术后标本送检病理科.     

Trachyonychia: case report and review of the literature

Trachyonychia is the term used to describe nail plate roughness, pitting, and ridging that may affect 1 to 20 nails. Alopecia areata, psoriasis, lichen planus, atopic dermatitis, ichthyosis vulgaris, as well as other skin conditions have been associated with trachyonychia, but the causal relationship is often challenging to demonstrate histologically. Clinical evidence of these cutaneous disorders in conjunction with a nail matrix biopsy may help elucidate an etiology of trachyonychia, but many cases often remain idiopathic. Nail biopsy findings may match skin histology, but more commonly show spongiotic or nonspecific changes. We present an interesting case of a female with progressive development of trachyonychia in all 20 nails coinciding with a new diagnosis of sarcoidosis.     

Cystic nephroma: report of a case and review of the literature

Cystic nephroma is a rare benign cystic renal tumor, which has been only recently recognized as an exclusively adult histological entity. We present a case of cystic nephroma, together with clinical, radiological, histopathological and immunohistochemical findings. The histopathological differential diagnosis and immunohistochemical features that are potentially useful for refining this tumor are discussed.     

食物依赖运动诱发过敏反应1 例并文献复习

目的:加深临床医师对食物依赖-运动诱发的过敏反应(food-dependent exercise-induced anaphylaxis, FDEIAn)的认识。方法:收集2018年8月10日北京医院1例FDEIAn患者的病例资料,并复习国内46例FDEIAn患者文献资料。根据患者病史、临床表现、治疗及预后资料做回顾性分析。结果:47例患者中,无明确的食物过敏史患者46例,服用阿司匹林患者20例。FDEIAn患者从发病到确诊中位病程为12个月,临床表现涉及皮肤、呼吸、消化道、心血管、神经等多系统。本组患者中,反复发作患者39例(83%),其中曾至少发生过1次过敏性休克患者37例(78.7%),部分患者曾多次反复发作过敏性休克。发生过敏性休克的患者,以肾上腺素和糖皮质激素治疗为主。结论:目前临床医师对FDEIAn识别不足,正确认识该疾病,准确识别该疾病,并做出预警,对临床医师至关重要。     

特发性嗜酸粒细胞增多综合征 1例并文献复习

目的提高对特发性嗜酸粒细胞增多综合征的认识。方法报告 2015年 10月 9日六安市人民医院收治的特发性嗜酸细胞增多综合征 1例,观察其临床表现及治疗经过,并进行文献复习。结果病人出现消化、神经、皮肤等多个系统损害,经激素治疗后好转,自行停药后,出现右侧肢体动静脉血栓,激素联合环磷酰胺治疗后病情改善。结论特发性嗜酸粒细胞增多综合征可以累及消化、神经、心血管、皮肤等多个系统,可以导致血栓形成等并发症,严重时可危及生命,早期诊断及治疗尤为重要。     

Ocular cysticercosis: a case report and literature review.

We have described a case of cysticercosis in the vitreous chamber of the left eye of a 16-year-old female student. The patient had presented with marked loss of visual acuity of about two months duration, but there were no other clinical signs and no evidence of intestinal taeniasis. The initial response to chemotherapy with praziquantel was good, but the patient defaulted treatment and when seen again, there was an indication of increased inflammatory responses in the eye. A vitrectomy was carried out to remove the cysticercus and associated fibrous strands. When last seen, the patient was well with improvement of vision.     

Fatal amiodarone-induced hepatotoxicity: a case report and literature review

OBJECTIVE: To report a fatal case of amiodarone-induced acute hepatotoxicity after intravenous amiodarone administration and similar fatal cases review. CASE SUMMARY: A 72-year-old woman with a history of hypertension, prior cardiovascular disease, atrial fibrillation and diabetes mellitus was admitted to the hospital with acute pyelonephritis and transferred to the intensive care unit due to cerebral infarction. An antidiabetic drug, a low dose of aspirin and intravenous amiodarone therapy was started. After receiving a second dose of amiodarone (1,200 mg; injection rate 1 mg/min), the woman developed ascites, jaundice, high levels of serum transaminases, decreased prothrombin time, and finally became unconscious. Immediately after treatment was discontinued, her extremely high hepatic parameters returned to normal. According to the Naranjo probability scale, this adverse reaction was highly probable. DISCUSSION: The occurrence of acute liver damage after intravenous amiodarone is rare but harmful. It can be induced by polysorbate 80, a solubilizer, by immunomediated centrilobular necrosis, or by the presence of a functional PPAR-I+/- gene. CONCLUSION: Amiodarone is an effective antiarrhythmic agent for preventing and treating atrial and ventricular arrhythmias. The molecular mechanism causing acute hepatic damage after amiodarone treatment is not clear. Therefore, amiodarone must be administered with care, and liver function should be monitored closely in patients treated with this drug.     

急性嗜酸粒细胞性肺炎1例并文献复习

目的探讨急性嗜酸粒细胞性肺炎(AEP)的临床表现、诊治及预后。方法结合我院收治的1例急性嗜酸粒细胞性肺炎的临床资料及国内外文献报道的病例进行综合分析加以总结。结果患者70岁,老年男性.发热伴咳嗽、咳痰呼吸困难10d,于2015年4月15日入院。胸部CT示双侧肺炎、双侧胸腔积液,经抗感染治疗无效,病情进行性加重,痰中找到嗜酸粒细胞计数46%,考虑急性嗜酸粒细胞性肺炎,在抗感染基础上加用糖皮质激素治疗后好转,随访3年未复发。结论急性嗜酸粒细胞性肺炎是一种少见病,糖皮质激素治疗有效,治愈后无复发,预后良好。     

螺内酯致单侧男性乳腺增生1例并文献复习

目的 分析螺内酯对单侧男性乳腺增生(gynecomastia,GYN)的影响.方法 对1例80岁心力衰竭病人口服螺内酯引起的单侧GYN进行病例分析并文献复习.结果 病人经过近8个月口服螺内酯治疗后,左侧乳房疼痛、肿胀,考虑是螺内酯引起的GYN.停药1个月后,左侧乳房疼痛消退,肿胀缩小.结论 老年病人长期服用螺内酯片仍引...     

Nephrogenic systemic fibrosis: a case report and review of the literature

The authors report a case of a patient who presented with thick, indurated, hyperpigmented plaques of the bilateral upper and lower extremities, ultimately discovered to be attributed to nephrogenic systemic fibrosis. The case was written to highlight the clinical manifestations of nephrogenic systemic fibrosis, as well as to make dermatologists aware of this disease, their role in diagnosis and management, and review treatment options.     

胸骨孤立性浆细胞瘤1例并文献复习

目的 通过临床病例及文献复习,探讨胸骨孤立性浆细胞瘤（SP）临床诊断与治疗关键问题。方法 分析武汉科技大学附属汉阳医院胸外科2020年9月至2021年10月治疗的1例胸骨SP病人的临床资料（临床表现、实验室特征、影像学特征、外科手术、病理学特征及随访资料）,并复习相关文献。结果 计算机体层成像（CT）示胸骨体可见肿块影,呈膨胀性生长,并伴有骨质破坏,边缘较清,周围软组织未见异常改变。术后病理提示胸骨浆细胞瘤,结合血红蛋白、尿本周蛋白、血钙、肌酐水平、免疫球蛋白、骨髓细胞学及X线等,临床诊断为胸骨SP。结论 诊断胸骨SP需综合分析影像学、实验室、病理检查结果及临床表现,尽早明确诊断是关键;手术结合适当的放疗是其治疗的最佳手段。     

Acute chlorophenylpiperazine overdose: a case report and review of the literature

This case report describes an acute overdose in a female patient with the serotonin mixed agonist-antagonist m-chlorophenylpiperazine (mCPP), a new synthetic drug that is also a metabolite of the antidepressant trazodone. Following ingestion of three multi-coloured tablets, she developed anxiety, agitation, drowsiness, flushing, visual disturbances and tachycardia. The mCPP concentration was 320 ng/mL in plasma and 2300 ng/mL in urine. Amphetamine (40 ng/mL), benzoylecgonine (47 ng/mL) and alcohol (0.7 g/L) were also detected in plasma. The concentration of mCPP in plasma was approximately six times higher than the usual concentration measured in patients under trazodone treatment (26-108 ng/mL, average 56 ng/mL). However, one should be careful to link the observed symptoms to the use of mCPP only as the other drugs that have also been taken or an interaction between the drugs could also have played a role.     

Giant appendiceal mucocele: a case report and review of the literature

Appendiceal mucocele is a rare condition characterised by cystic dilatation of the lumen of the appendix. Whenever possible it is essential to identify the disease pre-operatively by full clinical assessment and thorough investigations including abdominal CT scan and colonoscopy or barium enema. Accurate diagnosis helps to plan for a careful resection to remove the mass without spillage of the cyst contents, which can lead to the most dreaded complication of pseudomyxoma peritonei. In this paper we report on a rare case of giant mucocele of the appendix and review the relevant literature.     

卵巢髓系肉瘤1例报道并文献分析

髓系肉瘤是一种恶性程度高、预后差的肿瘤, 可发生于身体的任何部位, 但累及卵巢尤为罕见。妇科医生对其认识相对较少、术前不易诊断, 术后主要依靠病理及免疫组化明确诊断。现报道聊城市东昌府区妇幼保健院1例以盆腔包块为主要表现, 术后诊断为卵巢髓系肉瘤的患者并进行相关文献复习, 以提高对卵巢髓系肉瘤的认识。