PDF(Pubmed)
Abstract：
UNASSIGNED: We report the case of a 10-month-old with nasolacrimal duct obstruction (NLDO) associated with osteochondromyxoma (OMX), a very rare bone tumor.
UNASSIGNED: A 10-month-old boy presented with a 6-month history of right eye epiphora not responding to digital massage and topical steroid-antibiotics eye drops. The ophthalmic exam showed right medial canthal swelling. During the ophthalmic exam an abnormal snoring sound was noted. The mother also reported that patient experienced frequent upper respiratory tract infections. Inspection of nostrils showed a right nasal lesion that upon comprehensive evaluation by ENT and pathology teams turned out to be an OMX with loss of PRKAR1A expression. Further genetic testing confirmed the Carney complex (CNC) diagnosis and the patient was referred to multidisciplinary care. To the best of our knowledge, this is one of the first cases of OMX-induced NLDO, where a typical looking congenital NLDO ended up with a diagnosis of a rare genetic disease.
UNASSIGNED: We have described a case of OMX of the nasal cavity masquerading as congenital NLDO. This case emphasizes that NLDO is not always congenital if presenting within the first few months of life. It is important to obtain a thorough history and exam to evaluate potential differential diagnoses to guide subsequent decision-making steps.
UNASSIGNED: A 10-month-old boy presented with a 6-month history of right eye epiphora not responding to digital massage and topical steroid-antibiotics eye drops. The ophthalmic exam showed right medial canthal swelling. During the ophthalmic exam an abnormal snoring sound was noted. The mother also reported that patient experienced frequent upper respiratory tract infections. Inspection of nostrils showed a right nasal lesion that upon comprehensive evaluation by ENT and pathology teams turned out to be an OMX with loss of PRKAR1A expression. Further genetic testing confirmed the Carney complex (CNC) diagnosis and the patient was referred to multidisciplinary care. To the best of our knowledge, this is one of the first cases of OMX-induced NLDO, where a typical looking congenital NLDO ended up with a diagnosis of a rare genetic disease.
UNASSIGNED: We have described a case of OMX of the nasal cavity masquerading as congenital NLDO. This case emphasizes that NLDO is not always congenital if presenting within the first few months of life. It is important to obtain a thorough history and exam to evaluate potential differential diagnoses to guide subsequent decision-making steps.
摘要：
■我们报告了一例10个月大的鼻泪管阻塞（NLDO）与骨软骨粘液瘤（OMX）相关的病例，非常罕见的骨肿瘤.
■一个10个月大的男孩，他有6个月的右眼出唇病史，对数字按摩和局部类固醇抗生素滴眼液没有反应。眼科检查显示右内侧can肿胀。在眼科检查期间,注意到异常的打鼾声音。母亲还报告说，患者经历了频繁的上呼吸道感染。鼻孔检查显示右侧鼻腔病变，经ENT和病理小组综合评估，结果证明是OMX，PRKAR1A表达丧失。进一步的基因检测证实了卡尼复合体（CNC）的诊断，并将患者转诊至多学科护理。据我们所知,这是OMX诱导的NLDO的首批病例之一，典型的先天性NLDO最终被诊断为罕见的遗传病。
■我们描述了一个伪装成先天性NLDO的鼻腔OMX病例。这种情况强调，如果在生命的最初几个月内出现，NLDO并不总是先天性的。重要的是要获得全面的病史和检查，以评估潜在的鉴别诊断，以指导后续的决策步骤。
■一个10个月大的男孩，他有6个月的右眼出唇病史，对数字按摩和局部类固醇抗生素滴眼液没有反应。眼科检查显示右内侧can肿胀。在眼科检查期间,注意到异常的打鼾声音。母亲还报告说，患者经历了频繁的上呼吸道感染。鼻孔检查显示右侧鼻腔病变，经ENT和病理小组综合评估，结果证明是OMX，PRKAR1A表达丧失。进一步的基因检测证实了卡尼复合体（CNC）的诊断，并将患者转诊至多学科护理。据我们所知,这是OMX诱导的NLDO的首批病例之一，典型的先天性NLDO最终被诊断为罕见的遗传病。
■我们描述了一个伪装成先天性NLDO的鼻腔OMX病例。这种情况强调，如果在生命的最初几个月内出现，NLDO并不总是先天性的。重要的是要获得全面的病史和检查，以评估潜在的鉴别诊断，以指导后续的决策步骤。
