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牵牛花综合征与慢性髓性白血病-费城染色体的罕见关联。

An unusual association of Morning Glory Syndrome with chronic myeloid leukemia-Philadelphia chromosome.

作者信息

Panyala Rakesh, Mahesh Mood, Singh Anupam, Samanta Ramanuj

机构信息

Department of Ophthalmology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

出版信息

J Family Med Prim Care. 2020 Aug 25;9(8):4456-4459. doi: 10.4103/jfmpc.jfmpc_892_20. eCollection 2020 Aug.

Abstract

Morning glory disc anomaly (MGDA) is a rare congenital malformation that results from the incomplete formation of the optic nerve in utero. The majority of the patients have unilateral involvement and poor vision leading to sensory strabismus. Morning Glory Syndrome (MGS) may be a part of other syndromes and systemic abnormalities like transsphenoidal basal encephalocele, midfacial malformations, absent optic chiasma, MoyaMoya syndrome, and renal agenesis. In the present report, we describe a patient with a large disc with an excavated posterior scleral opening with a white glial tuft at the centre. The blood vessels were increased in number and arranged radially from the disc with peripapillary hyperpigmentation in clumps. Funnel-shaped excavation of the posterior globe was also noted on MRI. Associated ocular features were microcornea, nystagmus, esotropia, and systemic features included chronic myeloid leukemia- Philadelphia chromosome (CML-PC) and empty sella turcica. We report an unusual association of MGS with CML-PC.

摘要

牵牛花盘状异常(MGDA)是一种罕见的先天性畸形,由子宫内视神经形成不完全所致。大多数患者为单侧受累,视力差导致感觉性斜视。牵牛花综合征(MGS)可能是其他综合征和全身异常的一部分,如经蝶窦基底脑膨出、面中部畸形、视交叉缺如、烟雾病综合征和肾缺如。在本报告中,我们描述了一名患者,其视盘大,后巩膜开口呈凹陷状,中央有白色神经胶质束。血管数量增加,从视盘呈放射状排列,视乳头周围有色素沉着斑。MRI还显示后极呈漏斗状凹陷。相关的眼部特征为小角膜、眼球震颤、内斜视,全身特征包括慢性粒细胞白血病-费城染色体(CML-PC)和空蝶鞍。我们报告了MGS与CML-PC的一种不寻常关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c67/7586549/21ee74d5d50d/JFMPC-9-4456-g001.jpg

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