Sepsis-Like Syndrome in a Newborn Child With a Disturbance of the Urea Formation Cycle

Abstract

Sepsis-like syndrome is a septic–like syndrome. The pathogenesis of Sepsis-like syndrome is based on the hyperproduction of proinflammatory cytokines. Hereditary metabolic disorders, including in violation of the urea formation cycle, can occur with the clinic of Sepsis-like syndrome. Ammonium easily penetrates the blood-brain barrier, causes neurotoxic effects, damages glial cells, increases osmolarity, which leads to cerebral edema. The symptoms are similar to hypoxic-ischemic lesions of the central nervous system, meningoencephalitis, intrauterine infections, which leads to a differential diagnostic search for causes and the need to exclude an infectious disease. The article presents a clinical case of a newborn with a Sepsis-like syndrome clinic. The girl was born from 2 births naturally at the age of 38 weeks. In the first day of life, there were signs of respiratory failure. She was on mixed feeding. From the 5th day of life, the deterioration of the condition caused by the syndrome of central nervous system depression, with an increase in depression of consciousness up to coma, the development of seizures. Differential diagnosis was performed with intrauterine infections, sepsis, as there was leukocytosis in the blood, increased ESR, ferritin, procalcitonin, and seeding from the cerebrospinal fluid of Micoplasma hominis. The presence of low urea content in the blood serum, up to its absence, made it possible to suspect hereditary metabolic diseases with a violation in the urea cycle. The conducted examinations revealed a total increase in the concentration of amino acids in the blood using the method of tandem mass spectrometry, metabolites in urine and hyperammonemia up to 354 mcg/dl. The newborn received antibacterial therapy, anticonvulsant therapy, sodium benzoate, and was transferred to a specialized therapeutic mixture "Nutrigen". Despite the therapy, neurological symptoms increased and the girl died at the age of 3 months. This clinical case showed the difficulties of differentiation. diagnosis of causes in the presence of Sepsis-like syndrome in newborn children.