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一只猫患有小眼症、角膜皮样瘤以及类似眼耳脊椎综合征的先天性异常。

Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat.

作者信息

Berkowski William, Langohr Ingeborg, Pease Anthony, Bartoe Joshua

出版信息

J Am Vet Med Assoc. 2018 Feb 1;252(3):324-329. doi: 10.2460/javma.252.3.324.

Abstract

CASE DESCRIPTION An 18-month-old spayed female domestic shorthair cat was evaluated because of conjunctivitis and skin-fold dermatitis secondary to bilateral microphthalmia, corneal dermoids, and ankyloblepharon. CLINICAL FINDINGS Physical examination revealed bilateral microphthalmia, bilaterally symmetrical corneal dermoids, ankyloblepharon, superior and inferior entropion, prognathism, and facial asymmetry with deviation of the nasal septum. Computed tomography revealed malformed, thickened bony orbits with mineralization of the orbital ligament bilaterally. Moderate rightward deviation of the nasal septum and ventral nasal meatus was also evident, with no identifiable maxillary sinuses. Results of MRI of the brain were unremarkable. Abdominal ultrasonography showed an irregularly marginated left kidney and a right kidney defect suggestive of chronic renal infarction. An abnormal, well-demarcated, focally thickened region of the muscularis externa of the jejunum was also evident. TREATMENT AND OUTCOME Transpalpebral enucleation was performed bilaterally. Histologic examination of ocular tissues confirmed the corneal dermoids and microphthalmia with anterior and posterior segment dysgenesis and cataracts in both eyes. Ocular discomfort resolved after postoperative recovery, and follow-up revealed that the patient's activity level and quality of life were excellent. No clinical signs of upper respiratory, urinary, or gastrointestinal tract disease were observed during the approximately 3.5-year follow-up period. CLINICAL RELEVANCE The congenital abnormalities observed resembled those described for human patients with Goldenhar syndrome, and the outcome of treatment was favorable. This report may prompt clinicians to consider this diagnosis when evaluating young cats with similar clinical signs.

摘要

病例描述 一只18个月大已绝育的雌性家养短毛猫因双侧小眼畸形、角膜皮样瘤和睑球粘连继发结膜炎和皮肤褶皱性皮炎而接受评估。

临床发现 体格检查发现双侧小眼畸形、双侧对称的角膜皮样瘤、睑球粘连、上下睑内翻、下颌前突以及面部不对称伴鼻中隔偏曲。计算机断层扫描显示双侧眼眶骨畸形、增厚,眶韧带矿化。鼻中隔明显向右中度偏曲,鼻道腹侧也有偏曲,未见明显的上颌窦。脑部磁共振成像结果无异常。腹部超声检查显示左肾边缘不规则,右肾有缺损,提示慢性肾梗死。空肠肌层也有一个异常的、边界清晰的局灶性增厚区域。

治疗与转归 双侧进行经睑眼球摘除术。眼部组织的组织学检查证实了角膜皮样瘤以及双眼小眼畸形伴眼前段和后段发育异常及白内障。术后恢复后眼部不适症状消失,随访显示患者的活动水平和生活质量良好。在大约3.5年的随访期内未观察到上呼吸道、泌尿系统或胃肠道疾病的临床症状。

临床意义 观察到的先天性异常与人类Goldenhar综合征患者所描述的异常相似,治疗结果良好。本报告可能促使临床医生在评估有类似临床症状的幼猫时考虑这一诊断。

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