Summary
Urea cycle enzymophathies are rare in the literature. They are accompanied by neurological disorders somehow related to the increase in blood ammonia. Reviewing the possible physiopathological course we present a case in which during an eight month period severe cerebral atrophy developed, more intense in the occipital region but totally sparing the posterior cranial fossa structures.
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References
Colombo JP (1971) Congenital disorders of the urea cycle and ammonia detoxication. In: Falkner F, Kretchmer N, Rossi E (eds) Monographs in pediatrics, vol 1. Karger, Basel
Graham TE (1987) Muscle and blood ammonia and lactate responses to prolonged exercise with hyperoxia. J Appl Physiol 64: 1457–1462
Svinklys LG (1988) Family studies in ornithine transcarbamylase deficiency. Arch Dis Child 63: 297–302
Packman S, Mahoney MJ, Tanaka K (1978) Severe hyperammonemia in a newborn infant with methylmalonyl-Co. A mutase deficiency J Pediatr 92: 769–771
Hudak ML, Jones MD, Brusilow SW (1985) Differentiation of transient hyperammonemia of newborn and urea cycle enzyme defects by clinical presentation. J Pediatr 107: 712–719
Batshaw ML, Wachtel RC, Cohen L (1986) Neurologic outcome in premature infants with transient asymptomatic hyperammonemia. J Pediatr 108: 271–275
Barshow ML (1987) Inherited hyperammonemia: an algorithm for diagnosis. Hepathology 7: 1381–1382
Kendall BE, Boyd SG, Egger J (1987) Progressive neuronal degeneration of childhood with liver disease. Computed tomographic features. Neuroradiology 29: 174–180
Victor M, Adams RD, Cole M (1965) The acquired (non-Wilsonian) type of chronic hepatocerebral degeneration. Medicine (Baltimore) 44: 345–396
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Olier, J., Gallego, J. & Digon, E. Computerized tomography in primary hyperammonemia. Neuroradiology 31, 356–357 (1989). https://doi.org/10.1007/BF00344184
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DOI: https://doi.org/10.1007/BF00344184