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上外,你咋么不睡觉?我刚才在看文献= =我再上外
Volume 353:1502 October 6, 2005 Number 14
http://content.nejm.org/cgi/content/full/353/14/1502
Medical Mystery — One Brown Eye and One Blue Eye
A 10-year-old boy has a brown right eye and a blue left eye, as well as mild ptosis and miosis of his left eye. What is the condition he had at the age of 10 months?
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Volume 353:2409-2410 December 1, 2005 Number 22
http://content.nejm.org/cgi/content/full/353/22/2409
Medical Mystery: Brown Eye and Blue Eye — The Answer
To the Editor: The Medical Mystery in the October 6 issue1 shows a 10-year-old boy with one brown and one blue eye, with mild ptosis and miosis of the lighter, left eye (Fig. 1). Both eyes respond equally to light and have normal vision; both are normal on funduscopic examination. The eyes of the boy's father are blue, and the mother's are gray. At 10 months of age, the boy was given a diagnosis of a left-sided paraspinal neuroblastoma (C7), extending to the upper thoracic vertebrae and entering the intraspinal canal,xx( with bone marrow involvement (stage 4)xx(. After undergoing emergency decompression, chemotherapy, and surgery, the boy is in complete remission but has a loss of sweating (anhidrosis) on the left side of the face and torso. This finding is compatible with left Horner's syndrome, a regional disturbance of the sympathetic nervous system caused by the paravertebral tumor. A unilateral lack of sympathetic stimulation in childhood interferes with melanin pigmentation of the melanocytes in the superficial stroma of the iris, resulting in heterochromia. This clinical finding might be useful in the early diagnosis of lesions affecting the sympathetic nerves.
Benjamin Gesundheit, M.D., Ph.D.
Mark Greenberg, M.D.
Hadassah University Hospital
91120 Jerusalem, Israel
Editor's note: We received 1642 responses to this medical mystery, including 54 percent from physicians in practice, 19 percent from physicians in training, and 14 percent from medical students. Responses were received from 77 countries. Of the respondents, 71 percent correctly identified Horner's syndrome (which is sometimes called the Horner–Bernard syndrome) with heterochromia; 21 percent correctly identified the lesion as a cervical neuroblastoma impinging on the sympathetic chain. Other respondents provided such answers as Waardenburg's syndrome, retinoblastoma, chimerism, Fuchs' syndrome, and varicella. In addition to the classic findings of Horner's syndrome and heterochromia, this case highlights the importance of sympathetic innervation for proper melanocyte activity in the iris. Pigmentation of the iris is usually complete by the age of two years.
首先这个霍纳征肯定没有问题。
Horner综合征典型的临床表现是:上睑下垂、瞳孔缩小、面部无汗,其他表现还有:眼球内陷、虹膜异色(如果在两岁内发病)、对侧眼睑异常收缩、眼内压一过性减低、眼泪粘滞度改变。2岁内发病的患儿会出现虹膜异色和眼睑不平或眼睑下垂,这是因为虹膜色素沉着(其在发育过程中受交感神经控制)是在2岁内完成的,故常见于先天性疾病。2岁以后的获得性神经损伤,很少见到虹膜异色。故幼儿时的旧像片可显示眼部有无异常,依据虹膜异色有助于区分先天性和后天性疾病。
总结一下heterochromia虹膜异色的常见原因:
Horner综合征(见上)
Klein综合征
虹膜皮肤听觉发育障碍综合征
双眼距远,睑裂狭窄,眉毛过多,虹膜异色,蓝色巩膜
Fuchs虹膜异色性全葡萄膜炎(Fuchs综合征)
Dalen-Fuchs结节:交感性眼炎时,健康眼突然出现类似受伤眼的葡萄膜炎,视力急剧下降。眼底可出现的黄白色点状渗出,多位于周边部。
Waardenburg's Syndrome
是一种罕见的累及眼、耳、皮肤、毛发、骨骼及消化道的常染色体遗传病,1951 年由荷兰眼科遗传学家Waardenburg首次报道。该病的主要特征是:(1)内眦外移,相应下泪点异位;(2)高而宽的鼻根部;(3)眉毛粗重,连眉;(4)虹膜异色或双侧淡蓝色虹膜;(5)前额白发或少年白发;(6)先天性单侧或双侧神经性耳聋
duane综合症:
又称眼球后退综合症。表现为眼球内外转动受限,内转时眼球向后退,回缩,且睑裂缩小,外展时眼球稍向外突,睑裂稍大,屈光不正,眼球震颤,虹膜异色,瞳孔偏位,小角膜,视神经有髓鞘纤维,此外有面部畸形,斜颈,脊柱弯曲,以及面神经麻痹等
Conardi综合征:常染色体隐形遗传
眶距宽,虹膜异色,视网膜色素沉着,视神经萎缩侏儒,并指,骨骼钙化,头畸形,面孔异常
脑-面血管瘤病(Sturge-Weber综合征)
,常染色体显性遗传病,临床表现:(1)出生即有的扁平面部血管痣,多单侧。偶达对侧,多在三叉N1、2支分布皮肤范围内,也可波及第3支范围,并可蔓延到颈部和躯干;海绵状血管瘤可侵犯鼻咽部和口腔。(2)癫痫发作,常在1岁内就发生,发作后可有Todd瘫痪,多次发作也可造成持久偏瘫和偏盲。(3)部分患者智力低下、精神障碍、青光眼、眼球突出、视神经萎缩、虹膜异色等。少数患者有内脏血管瘤。(4)颅内病理改变主要为软膜上血管瘤,多与面部血管瘤同侧,脑膜增厚,
[ 本帖最后由 zhangheng1020 于 2006-5-3 01:02 编辑 ] |
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