Neuropathological Observations in a Patient with Carbamylphosphate-synthetase Deficiency and in Two Sibs
Open Access
- 1 February 1972
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 47 (251), 47-51
- https://doi.org/10.1136/adc.47.251.47
Abstract
Neuropathological findings are described in a child who suffered from carbamylphosphate-synthetase deficiency and died at the age of 7 months. The brain showed ulegyria of the cerebral and cerebellar cortex and hypomyelination of the centrum semiovale and the central part of the brainstem. Two sibs, who had died at the age of 4 weeks after a comparable illness, showed brain damage that seemed to represent an earlier stage of that observed in the first patient. These two children also showed bilateral symmetrical necrotizing lesions in certain brainstem areas (in one, kernicterus was observed macroscopically). The absence of further neuropathological observations in this disease makes it as yet impossible to reach any definite conclusion as to the aetiology of the brain lesions.Keywords
This publication has 7 references indexed in Scilit:
- Type II Alzheimer change experimentally produced in astrocytes in the ratJournal of the Neurological Sciences, 1971
- Congenital HyperammonemiaArchives of Neurology, 1970
- Hereditary hyperammonaemia.1970
- Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.Archives of Disease in Childhood, 1969
- An association of phenylketonuria with ulegyria.1969
- An etiologic and diagnostic study of cerebral palsy: A preliminary reportThe Journal of Pediatrics, 1964
- [Necrosing symmetrical leuko- and polio-encephalopathies].1960