假性甲状旁腺功能减退症1例报告

假性甲状旁腺功能减退症(Pseudohypoparathyroidism,PHP)是指一组以低钙、高磷和甲状旁腺激素(PTH)抵抗为特征的显性/隐性遗传病。主要临床表现为反复低钙性抽搐,常伴有语言及体格发育迟缓和Albright 遗传性骨营养不良症,给予补钙后症状可缓解。此病临床少见,多以手足抽搐就诊,常导致误诊及漏诊。本文主要对PHP的鉴别诊断、治疗等方面展开讨论,旨在通过这一典型的病例报道,提高广大临床工作者对此病的认识。     

Medullomyoblastoma: a case report

Medullomyoblastoma is a rare childhood tumor of the central nervous system and there have been only seventeen cases reported in the English literature. A case of medullomyoblastoma arising from the cerebellar vermis was reported. Postmortem examination revealed diffuse leptomeningeal dissemination and supratentorial metastasis. In addition to classical histologic examination, the immunohistochemical and ultrastructural features were studied. Besides skeletal muscle differentiation, neither neuronal nor astrocytic differentiation were identified. The myoblastic element was confirmed by the demonstration of thick and thin myofilaments and Z bands on electron microscopy and by positive immunostaining for myoglobin.     

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).     

囊性肾瘤一例报告

1临床资料患者女性,48岁.因"左侧腰部酸胀6个月"入院,体格检查未见异常;实验室检查:血、尿常规及肝、肾功能均无异常,核素肾图提示双侧肾功能正常.B超检查发现左肾中上极囊性占位.进一步行CT检查提示病变大小约6 cm×7 cm,边界清楚,囊内组织密度均匀,增强后见其中有线样增强影(图1),提示囊肿内有含血管成分的结构深入其中,考虑此囊肿为肿瘤性病变,而非单纯性肾囊肿,诊断为"左肾囊性占位,囊性肾瘤?".根据CT片估计,患侧肾脏约能保留1/4～1/3的正常部分,因此决定在全麻下行左肾切除术.手术取左侧11肋下斜切口,术中见左肾中上极囊性肿物,大小约8 cm×6 cm,有完整包膜,与肾脏周围组织边界清晰,将其连同肾脏完整切除.剖开肿物见其内为清亮液体物质,被薄层纤维性组织分隔为大小不等的多个囊腔.术后病理切片报告:囊壁内衬单层扁平细胞,部分为立方形细胞;囊壁间隔内组织为纤维组织,部分纤维细胞核染色较深,未见肾单位结构及恶性细胞成分,诊断为"囊性肾瘤".患者术后恢复顺利,随访半年无异常.     

Intraspinal endometriosis: a case report

Ｅｎｄｏｍｅｔｒｉｏｓｉｓ (ＥＭ )ｉｓｄｅｆｉｎｅｄｂｙｔｈｅｐｒｅｓｅｎｃｅｏｆｔｉｓｓｕｅｈｉｓｔｏｌｏｇｉｃａｌｌｙａｎｄｆｕｎｃｔｉｏｎａｌｌｙｓｉｍｉｌａｒｔｏｔｈｅｅｎｄｏｍｅｔｒｉｕｍｏｕｔｓｉｄｅｔｈｅｕｔｅｒｕｓ ＥＭｈａｓｂｅｅｎｍｏｓｔｌｙｒｅｐｏｒｔｅｄｉｎｔｈｅｐｅｌｖｉｓ Ｉｎｔｒａｓｐｉｎａｌｅｎｄｏｍｅｔｒｉｏｓｉｓ (ＩＥＭ)ｉｓｓｏｒａｒｅｔｈａｔｏｎｌｙｆｏｕｒｃａｓｅｓｈａｖｅｂｅｅｎｒｅｐｏｒｔｅｄｉｎｔｈｅｌｉｔｅｒａｔｕｒｅ ,ｔｏｏｕｒｋｎｏｗｌｅｄｇｅ …