Winters P R, Harrod M J, Molenich-Heetred S A, Kirkpatrick J, Rosenberg R N
Neurology. 1976 Nov;26(11):1003-7. doi: 10.1212/wnl.26.11.1003.
The enzymatic delineation of the mucopolysaccharidoses has revealed that certain syndromes, although phenotypically distinct, share the same enzymatic defect. Patients with the classic Hurler and Scheie syndromes or other phenotypic variations of these two disorders have a deficiency of alpha-L-iduronidase. We are reporting a patient with alpha-L-iduronidase deficiency whose phenotypic abnormalities did not resemble either the Hurler or Scheie syndrome and who may have had either the Hurler-Scheie genetic compound described by McKusick or an allelic disorder. Our patient was a 25-year-old woman whose initial presentation was due to acute paranoia and who was subsequently found to have many morphologic, neurologic, radiographic, and neuropathologic findings consistent with a mucopolysaccharide disorder. To our knowledge, complete neuropathologic findings have not been previously described in this hybrid group of patients. A distinctive feature of this patient's illness is that the underlying disorder was not clinically apparent until adulthood, but presented with sever bony abnormalities of the skull and deposition of mucopolysaccharides in the meninges.
对黏多糖贮积症的酶学研究表明，某些综合征尽管在表型上有所不同，但却存在相同的酶缺陷。经典型Hurler综合征和Scheie综合征患者或这两种疾病的其他表型变异患者缺乏α-L-艾杜糖醛酸酶。我们报告了一名α-L-艾杜糖醛酸酶缺乏的患者，其表型异常既不像Hurler综合征也不像Scheie综合征，可能患有McKusick描述的Hurler-Scheie基因复合症或等位基因疾病。我们的患者是一名25岁女性，最初表现为急性妄想症，随后发现有许多形态学、神经学、影像学和神经病理学表现，符合黏多糖病。据我们所知，此前尚未对这类混合型患者进行过完整的神经病理学描述。该患者疾病的一个显著特征是，潜在疾病在成年前并无临床症状，但在成年后出现了严重的颅骨骨质异常以及黏多糖在脑膜中的沉积。
