Carpenter S
Department of Neurology-Neurosurgery, McGill University, Montreal, Quebec, Canada.
Am J Med Genet Suppl. 1988;5:85-91. doi: 10.1002/ajmg.1320310611.
Skin biopsy is a reliable method for diagnosis of Batten disease; it is probably not reliable in Kufs disease. Eccrine secretory cells are the most consistently involved cell type. The abundance of lysosomal storage facilitates diagnosis in infantile and late-infantile cases. The curvilinear bodies of the late-infantile cases have high specificity and should be easily recognizable, though their lamination must be demonstrable. In the usual juvenile cases the cell types involved are more limited, and a superficial biopsy, which does not include eccrine secretory cells, may be nondiagnostic. These cells may contain fingerprint profiles in occasional juvenile, adolescent, or adult patients with other diseases. Thus, verification of involvement of a second cell type, such as duct cells, Schwann cells, and smooth or skeletal muscle, is essential. In all varieties of the disease strict criteria for the ultrastructural patterns must be followed. Otherwise, confusion may arise with normal organelles, with banal lipofuscin, or with nonspecific lysosomes.
皮肤活检是诊断巴滕病的可靠方法；在库夫斯病中可能不可靠。外分泌分泌细胞是最常受累的细胞类型。溶酶体贮积物的大量存在有助于婴儿型和晚婴儿型病例的诊断。晚婴儿型病例的曲线体具有高特异性，应该很容易识别，尽管其层状结构必须得到证实。在常见的青少年病例中，受累的细胞类型更为有限，而不包括外分泌分泌细胞的浅表活检可能无法诊断。这些细胞在患有其他疾病的偶尔青少年、青年或成年患者中可能含有指纹样结构。因此，确认第二种细胞类型（如导管细胞、施万细胞以及平滑肌或骨骼肌）受累至关重要。在该疾病的所有类型中，必须遵循超微结构模式的严格标准。否则，可能会与正常细胞器、普通脂褐素或非特异性溶酶体产生混淆。
