MUCOLIPIDOSIS-IV - MORPHOLOGY AND HISTOCHEMISTRY OF AN AUTOPSY CASE
MUCOLIPIDOSIS-IV - MORPHOLOGY AND HISTOCHEMISTRY OF AN AUTOPSY CASE
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DOI：
10.1097/00005072-199503000-00002
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发表时间：
1995-03-01
影响因子：
3.2
通讯作者：
KOLODNY, EH
中科院分区：
文献类型：
--
作者：
FOLKERTH, RD;ALROY, J;KOLODNY, EH
IV 型粘脂沉积症是一种罕见的常染色体隐性遗传疾病，其特征是角膜混浊、智力低下和运动里程碑延迟。尽管溶酶体储存材料已在活检组织和白细胞中得到证实，但完整的尸检病理学，包括神经病理学，尚不清楚。代谢缺陷仍然是推测性的。我们报告了唯一已知尸检的一般和神经病理学结果。在中枢神经系统中，大脑皮层的神经元丢失。基底节、小脑深部核团和脑干核团以星形细胞增多为标志；残留神经元细胞质有棕色颗粒。这些颗粒对高碘酸希夫、剑刀豆和苏丹黑呈阳性，但对卢克索固蓝不呈阳性。从超微结构上看，神经元含有充满嗜锇、无定形和颗粒物质的溶酶体，以及很少的层状膜结构。肝细胞、上皮细胞、内皮细胞、软骨细胞和组织巨噬细胞也用曼陀罗和蓖麻凝集素呈阳性染色，肾小球也用花生凝集素染色；大多数非神经细胞在甲苯胺蓝染色的塑料嵌入切片上含有嗜锇颗粒，对应于层状膜结构。这些发现补充了先前报道的在同一患者中进行的眼形态以及脑和肝脏生物化学，并表明神经元中的存储材料与非神经细胞中的存储材料不同。此外，潜在的缺陷不太可能是单一酶（即溶酶体水解酶）的缺乏。
Mucolipidosis Type IV is a rare, autosomal recessive disorder characterized by corneal opacification, mental retardation, and delayed motor milestones. Whereas lysosomal storage material has been demonstrated in biopsied tissues and leukocytes, the complete autopsy pathology, including neuropathology, is unknown. The metabolic defect remains speculative. We report the general and neuropathologic findings of the only known autopsy. In the central nervous system, neuronal loss in the cerebral cortex. basal ganglia, deep cerebellar nuclei, and brainstem nuclei was marked by astrocytosis; the cytoplasm of residual neurons had brown granules. These granules were positive with periodic acid-Schiff, Concanavalia ensiformis, and Sudan black, but not with Luxol-fast blue. Ultrastructurally, neurons contained lysosomes laden with osmiophilic, amorphous and granular material, and few lamellated membrane structures. Hepatocytes, epithelia, endothelia, chondrocytes, and tissue macrophages also stained positively with Datura stramonium and Ricinus communis-I agglutinins, with renal glomeruli also staining with peanut agglutinin; most non-neural cells contained osmiophilic granules on toluidine blue-stained, plastic embedded sections, corresponding to lamellated membrane structures. These findings complement the previously reported ocular morphology and brain and liver biochemistry performed in the same patient, and suggest that the storage material in neurons differs from that in non-neural cells. Furthermore, the underlying defect is not likely to be a deficiency of a single enzyme (i.e, a lysosomal hydrolase).