Schmidtke K, Endres W, Roscher A, Ibel H, Herschkowitz N, Bachmann C, Plöchl E, Hadorn H B
Institut für Neuropathologie, Ludwig-Maximilians-Universität München, Federal Republic of Germany.
Eur J Pediatr. 1992 Dec;151(12):899-903. doi: 10.1007/BF01954126.
Clinical, biochemical, neuropathological and neurochemical findings in a case of Hartnup syndrome are reported. After initially normal development, the affected girl suffered progressive neuropsychiatric decline with statomotor and mental retardation and intractable seizures and died at the age of 2 years. Postmortem neuropathological and neurochemical investigations showed a combination of extensive neuronal degeneration and cerebral dysmyelination. Pathogenetic hypotheses and the relationship between neuropsychiatric disease and Hartnup syndrome are discussed. Additionally, a fast type bisalbuminaemia present in the girl and her mother is described.
报告了一例哈特努普综合征患者的临床、生化、神经病理学和神经化学检查结果。在最初发育正常后，患病女孩出现进行性神经精神衰退，伴有共济运动和智力发育迟缓以及顽固性癫痫发作，并于2岁时死亡。尸检神经病理学和神经化学检查显示广泛的神经元变性和脑髓鞘形成障碍并存。讨论了发病机制假说以及神经精神疾病与哈特努普综合征之间的关系。此外，还描述了该女孩及其母亲存在的一种快速型双白蛋白血症。
