瑞氏综合征一例尸检

患儿女 ,2岁 4个月。因惊厥伴意识不清 1ｈ于 1998年6月 8日入院。患儿入院前 1ｈ无明显诱因突然抽搐 ,持续 5ｍｉｎ略缓解。发病前大便 2次 ,稍稀 ,病前 8ｈ食用火腿肠后呕吐一次。否认口服阿司匹林史 ,否认惊厥史。体检 :意识不清 ,双肺可闻及散在痰鸣音 ,肝脏 :肋下 3.0ｃｍ ,剑下 2 .5ｃｍ ,质稍硬 ,四肢肌张力低 ,膝腱、跟腱反射未引出 ,颈无抵抗。实验室检查 :白细胞 16 .7× 10 9/Ｌ ,中性粒细胞 0 .92 ,淋巴细胞 0 .0 8,血氨 6 4.5 70 μｍｏｌ/Ｌ(参考值 <44 .0 2 5 μｍｏｌ/Ｌ) ,血糖 0 .4ｍｍｏｌ/Ｌ。血谷 丙转氨酶 170Ｕ/Ｌ、…     

Peutz-Jeghers氏综合征并发Leopard综合征1例尸检报告

患者,男,12岁,江西人。1岁时全身皮肤出现黑褐色斑点,并见腹部膨大,近年反复腹泻。6岁时心脏出现杂音。体验:身长125(正常138)cm。头、面、颈、躯干、四肢、外阴皮肤、眼结膜、唇及硬腭粘膜均有直径0.5-3mm的类圆形雀斑梯痣,平坦,压迫不褪色。腹部膨胀,有移动虫音。胸骨左缘可听到Ⅱ—Ⅲ级收缩期     

Wegener氏肉芽肿病一例尸检报告

Wegener氏肉芽肿病是一种罕见的原因未明的肉芽肿性疾病。我院1954年至1984年共作尸体解剖1409例,仅遇1例。现报道如下: 病史摘要:患者男,34岁,伐木工人。因寒颤发热4月余,咯血脓痰,右脚痛,于1983年6月入院。体检:急性重病容,呼吸急促,右胸第五肋以上叩痛明显。胸片显示右上肺大片实变病灶。痰涂片未找到抗酸菌和霉菌。入院后即给子抗感染及对症、支持治疗。7月初患者头痛颈直,腰穿脑压明显增高,继则呕吐、双瞳不等及癲痫样发作。8月中旬患者嗜睡懒言,呕吐咖啡色物,颜面、下肢出现浮肿,小便     

产前诊断克氏综合征一例

笔者遇孕21周羊水细胞培养经染色体核型分析确诊克氏征1例,核型47,XXY。临床资料现病史:患者,女性,29岁。既往月经规律,经期4-5天,周期30天。末次月经2009-07-04。停经一月,自测尿HCG+,诊断早孕,早孕反应不明显,早孕期间无感冒、毒物、     

克氏综合征染色体异常一例

患者 25岁,男,婚后两年不育来诊.身高1.66 m,无胡须,也无明显喉结,颈短而偏粗,似轻度蹼颈状,表型似女性.外生殖器检查除睾丸较小(4 mL)外,无明显异常,性生活可.精液分析,精子计数为零.Y染色体微缺失(AZF基因)检测结果正常.内分泌检查:促卵泡生成素18.17 U/mL(正常参考值1.67～11.98 U/mL),促黄体生成素17.26 U/mL(正常参考值1.26～8.76 U/mL),雌二醇20.08 pg/mL(正常参考值0～41.42 pg/mL),睾酮2.49 ng/mL(正常参考值2.41～11.41pg/mL),垂体催乳素365.23 U/mL(正常参考值58.41～338.72 U/mL).临床诊断为不育症.染色体检查,计数核型200个,全部核型为47,XY,i(Xq)(图1),其父母及一弟染色体核型均正常.     

唐氏综合征合并克氏综合征报告一例

正1病例患儿,男性,5岁,智力障碍,运动发育落后,于2016年1月来我院就诊。体查:患儿身高93cm,体重14.6kg,有先天愚儿貌,面圆而扁平,眼裂上斜,眼距宽,鼻梁低平,腭弓高,双手通贯掌,手指短小,小指只有一条褶纹,脚趾短粗,双侧睾丸小,阴茎短小,心、肺无杂音,脑CT正常,体格发育稍胖,反应迟钝等。家系调查患儿出生时其父35岁,其母37岁,农民。     

克氏综合征染色体异常一例

患者 25岁,男,婚后两年不育来诊.身高1.66 m,无胡须,也无明显喉结,颈短而偏粗,似轻度蹼颈状,表型似女性.外生殖器检查除睾丸较小(4 mL)外,无明显异常,性生活可.精液分析,精子计数为零.Y染色体微缺失(AZF基因)检测结果正常.内分泌检查:促卵泡生成素18.17 U/mL(正常参考值1.67～11.98 U/mL),促黄体生成素17.26 U/mL(正常参考值1.26～8.76 U/mL),雌二醇20.08 pg/mL(正常参考值0～41.42 pg/mL),睾酮2.49 ng/mL(正常参考值2.41～11.41pg/mL),垂体催乳素365.23 U/mL(正常参考值58.41～338.72 U/mL).临床诊断为不育症.染色体检查,计数核型200个,全部核型为47,XY,i(Xq)(图1),其父母及一弟染色体核型均正常.     

克氏综合征染色体异常一例

患者 25岁,男,婚后两年不育来诊.身高1.66 m,无胡须,也无明显喉结,颈短而偏粗,似轻度蹼颈状,表型似女性.外生殖器检查除睾丸较小(4 mL)外,无明显异常,性生活可.精液分析,精子计数为零.Y染色体微缺失(AZF基因)检测结果正常.内分泌检查:促卵泡生成素18.17 U/mL(正常参考值1.67～11.98 U/mL),促黄体生成素17.26 U/mL(正常参考值1.26～8.76 U/mL),雌二醇20.08 pg/mL(正常参考值0～41.42 pg/mL),睾酮2.49 ng/mL(正常参考值2.41～11.41pg/mL),垂体催乳素365.23 U/mL(正常参考值58.41～338.72 U/mL).临床诊断为不育症.染色体检查,计数核型200个,全部核型为47,XY,i(Xq)(图1),其父母及一弟染色体核型均正常.     

多脾综合征1例尸检

患儿女，９岁。活动后心悸、气促、口唇紫绀５年，于１９９８年３月１５日入院。患儿４岁时出现活动后心悸气促、胸闷紫绀，休息后缓解。入院体查：Ｔ３７７℃、Ｐ１００次／分、Ｒ３０次／分、ＢＰ１２６／９３ｋＰａ。双肺呼吸音粗。心尖博动位于剑突下偏左，心界...     

Reye综合征24例尸检报道

Reye综合征(Reye syndrome,RS)是一种急性非炎性脑病—内脏脂肪变性综合征,主要累及儿童和青少年,常发生在前驱疾病的恢复期,其病因和发病机理仍不清楚。本文对24例RS尸检资料进行了回顾性研究,并对本病的诊断标准、RS肝脏的病理学、肝穿刺活检的重要性和成人RS等进行讨论。     

Ovarian leiomyosarcoma: an autopsy case report

Primary non-specific sarcoma of the ovary is extremely rare, and only 22 reported cases of pure leiomyosarcoma (LMS) are known to the authors. We present an autopsy case of a primary ovarian leiomyosarcoma in a 73-year-old woman. She had noticed an abdominal mass after difficulty in defecating for several months. The excision of tumor with bilateral salpingo-oophorectomy and hysterectomy was carried out. A diagnosis of pure leiomyosarcoma of the left ovary was made on pathological examination with immunohistochemistry. Adjuvant radio-chemotherapy was not given. At 18 months' follow up, abdomino-pelvic sonography revealed an abdominal tumor and hepatic metastasis. The patient died 3.5 years after the initial surgery. The post-mortem examination revealed a peritoneal recurrent tumor and extensive distant metastases of the liver, lungs, pancreas, gastric mucosa, muscle and skin. The prognosis of the ovarian LMS is poor from the pertinent literature. Several prognostic indicators on histology including mitotic activity, proliferative activity and p53 status of the tumor are discussed.     

A family of Gardner's syndrome with report of an autopsy case

A family with Gardner's syndrome including one autopsy case is reported. A 22 year-old man had multiple polyposis of the colon and the small intestine, epidermal cysts, soft part tumor of the abdominal skin and osteomas in the calvarium and rib, and died of a carcinoma in the transverse colon and embolism of the brain. Histologically, all polyps were diagnosed as adenomatous polyp. The greater their diameter, the higher the tendency of atypism was observed. However, the polyps around the cancer were few, small, and with low atypism, and we could not obtain evidence showing direct transformation of adenomatous polyps into carcinoma. His two elder brothers had multiple polyposis of the colon, epidermal cysts and osteomas in the calvarium or mandibular bone, but are still alive.     

Tay Sachs disease: an autopsy case report

This report describes a case report of a postmortem performed on a 5-year old patient of Tay-Sachs disease, presenting with failure to thrive, muscular flaccidity, and cherry-red spots on macula on fundoscopy. There was no history of similarly affected sibling or any other family member. The diagnosis was confirmed by enzyme studies. At postmortem, there was no organomegaly. The brain, on microscopy, showed vacuolated swollen neurons.     

The Johanson-Blizzard syndrome: case report and autopsy findings.

We report the case of a boy with the Johanson-Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissue, and a brain of normal size but with evidence of a cortical developmental defect consisting of abnormalities of gyral formation and of cortical neuronal organization. In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo-cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth. Evidence is accumulating that this syndrome is likely to be inherited as an autosomal recessive disorder. Our case represents the first report of autopsy findings in the syndrome.     

Regional Proteus syndrome: Report of an autopsy case

An uncommon autopsy case involving Proteus syndrome with multiple hamartomatous lesions in a 52 year old woman is reported. At birth, hemihypertrophy was noted on the right side of the face. Leiomyoma of the urinary bladder was extirpated at 37 years of age. She died of sepsis due to a brain abscess. At autopsy, diffuse asymmetrical lipomatosis was noted on the right side of the face, scalp, lip, oral mucosa, tongue and on the left side of the cerebellar peduncle. Muitiple meningiomas, cavernous hemangiomas and osseous hypertrophy overlapped in the intracranial regions. The present case is considered as a regional type of Proteus syndrome displaying a somatic mosaicism.     

无脾综合征与多脾综合征尸检及文献复习

目的：增强对无脾与多脾综合征的认识。方法：报道我院尸检发现的无脾综合征３例、多脾综合征１例，复习文献、对该综合征的临床病理学特征进行讨论。结果：无脾综合征特征：（１）脾脏缺如；（２）心血管畸形；（３）内脏异位（倾象于右侧内脏结构重复）。多脾综合征特征：（１）多个脾脏；（２）心血管畸形。（３）内脏异位（倾象于左侧内脏结构重复）。结论：无脾与多脾综合征是一种复杂的先天性畸形、罕见、预后差