Mullaney P B, Weatherhead R, Millar L, Ayyash I I, Ayberk H, Cai F, Risco J M
King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Ophthalmology. 1998 Apr;105(4):643-50. doi: 10.1016/s0161-6420(98)94018-0.
OBJECTIVE/DESIGN: This study aimed to examine and describe three siblings with alacrima, the eldest of whom had associated achalasia and adrenocortical insufficiency.
Three affected siblings and four age-matched control subjects participated. INTERVENTION/MAIN OUTCOME MEASURES: The three children underwent complete ophthalmologic examinations; computed tomographic scanning of brain, orbit, chest, and abdomen; and measurement of serum cortisol. All three were subjected to a short synacthen challenge. Lacrimal gland biopsies were performed on the two younger subjects, and specimens were studied by light and electron microscopy.
All three children showed virtually absent tear secretion as tested by the Schirmer test. The resulting keratopathy was most severe in the oldest child, who developed bilateral corneal melting. The two younger children showed interpalpebral corneal staining with rose bengal. All three children improved after punctal occlusion. Addison's disease was present in the oldest child. Computed tomographic scanning showed absent lacrimal and shrunken adrenal glands in association with achalasia of the cardia in the oldest child. The lacrimal glands were found to be reduced in size in the next eldest child. When evaluated by electron microscopy, the lacrimal gland biopsy specimens from the two younger children showed neuronal degeneration associated with depletion of secretory granules in the acinar cells.
In this disease, radiologic evidence of reducing lacrimal gland size with increasing age could represent a degenerative process. This may be paralleled by other signs and the possibility of adrenocortical insufficiency and achalasia of the cardia should be investigated in all children presenting with dry eyes. These children appear to have a progressive neuronal disease.
目的/设计：本研究旨在检查并描述三名患有泪液缺乏症的兄弟姐妹，其中年龄最大的还伴有贲门失弛缓症和肾上腺皮质功能不全。
三名受影响的兄弟姐妹和四名年龄匹配的对照受试者参与了研究。干预措施/主要观察指标：三名儿童接受了全面的眼科检查；脑部、眼眶、胸部和腹部的计算机断层扫描；以及血清皮质醇测定。三人都接受了短程促肾上腺皮质激素刺激试验。对两名年龄较小的受试者进行了泪腺活检，并通过光学显微镜和电子显微镜对标本进行了研究。
通过施密特试验检测，所有三名儿童的泪液分泌几乎都不存在。由此导致的角膜病变在年龄最大的儿童中最为严重，他出现了双侧角膜溶解。两名年龄较小的儿童出现了孟加拉玫瑰红染色的睑裂间角膜染色。所有三名儿童在泪点封闭后病情均有改善。年龄最大的儿童患有艾迪生病。计算机断层扫描显示，年龄最大的儿童泪腺缺如且肾上腺萎缩，同时伴有贲门失弛缓症。年龄第二大的儿童泪腺体积减小。通过电子显微镜评估，两名年龄较小的儿童的泪腺活检标本显示神经元变性，伴有腺泡细胞分泌颗粒减少。
在这种疾病中，随着年龄增长泪腺体积减小的影像学证据可能代表一种退行性过程。这可能与其他体征同时出现，对于所有出现干眼症状的儿童，都应调查是否存在肾上腺皮质功能不全和贲门失弛缓症的可能性。这些儿童似乎患有进行性神经元疾病。
