el-Rayyes K, Hegab S, Besisso M
Department of Ophthalmology, Ibn-Sina Hospital, Kuwait.
J Pediatr Ophthalmol Strabismus. 1991 Jan-Feb;28(1):35-7.
We describe a single case of a 2-year, 8-month-old male child with alacrima, achalasia, and neurologic anomalies and proven clinical and laboratory evidence of normal adrenocortical function. As the child was the product of a first cousin marriage, the possibility of autosomal recessive mode of inheritance was considered. Differentiation between this syndrome and other previously described associated syndromes is illustrated. This article emphasizes the presence of multisystem anomalies as described in the presence of normal suprarenal function.
我们描述了一例2岁8个月大的男童，他患有泪腺缺乏、贲门失弛缓症和神经学异常，且有肾上腺皮质功能正常的临床和实验室证据。由于该患儿是近亲结婚的后代，因此考虑了常染色体隐性遗传模式的可能性。文中阐述了该综合征与其他先前描述的相关综合征之间的区别。本文强调了在肾上腺功能正常的情况下出现多系统异常的情况。
