Neuropathological Observations in a Patient with Carbamylphosphate-synthetase Deficiency and in Two Sibs

Abstract

Ebels, E. J. (1972). Archives of Disease in Childhood, 47, 47. Neuropathological observations in a patient with carbamylphosphate-synthetase deficiency and in two sibs. 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.

Problems in Case Definition of Reye's Syndrome

“…Similar hepatic abnormalities have been reported in conditions which may resemble Reye's syndrome clinically, especially in the inborn errors of urea cycle enzymes [11][12][13][14][15], such as carbamyl phosphate synthetase deficiency, ornithine transcarbamylase deficiency, citrullinemia and argininosuccinic aciduria, all of which conditions have in common the occurrence of hyperammonemia, which has led to the suggestion that ammonia intoxica- tion may be the cause of the fatty change in the liver [14]. Both the specificity and the occurrence of mitochondrial abnormalities in electron microscopic sections from liver biopsies in Reye's syndrome have been challenged [ 16-1 71 .…”

Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency

“…The severity of the clinical manifestations of CPS1D depends on the degree of the enzymatic activity deficiency. The age of onset for neonatal-onset CPS1D ranges from day 0 to 20 (Hommes et al, 1969;Freeman et al, 1970;Ebels, 1972;Gelehrter and Snodgrass, 1974;Suzuki et al, 1986;Finckh et al, 1998;Kurokawa et al, 2007). Most patients with CPS1D present with neonatal onset and usually passed away quickly (G, S, T, Y, C, Q, and N), basic (K, R, and H), acidic (D and E), and hydrophobic (A, V, L, I, P, W, F, and M) amino acids are shown in green, blue, red, and black, respectively (Li et al, 2021).…”

Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty‐nine Japanese patients with urea cycle enzymopathies

“…Therefore, it seems clear that the mentality of the patients depends on the extent of damage to the brain. In earlier studies, it was shown that those with the disease who were severely mentally retarded had chronic encephalopathy, including increased size of brain ventricules, increased area of focal cortical necrosis, and frontal-parietal ulegyria [Solitare et al, 1969;Bruton et al, 1970;Ebels, 1972;Martinet al, 19821. Kendall et al [1983] and Olier et al [1984] reported that cerebral atrophy, ventriculomegaly, and low-density white matter were present in severely mentally retarded patients with OTCD.…”