Clinical and neuropathological observations in phenylketonuria
Kakulas, B.A.; Hamilton, G.J.; Mastaglia, F.L.
Proceedings of the Australian Association of Neurologists 5(1): 155-158
1968
ISSN/ISBN: 0084-7224 PMID: 5709954 Document Number: 5090
The neuropathological findings in a man of 28 years with phenylketonuria are reported. The patient was mentally retarded and never developed speech. Symmetrical white matter lesions characteristic of "leucodystrophy" were found in the cerebral hemisphere. U fibres were spared. Microscopically, myelinated fibres were deficient and there was proportionate destruction of axis cylinders and gliosis. There were few sudanophilic macrophages. The patient's married 33 year old sister with I.Q. 66 has 3 children, all of whom are severely mentally retarded, thus underlining the serious effect of the disorder on the offspring of phenylketonuric mothers.
Document emailed within 1 workday
