LEUCINOSIS IN THE PRACTICE OF A NEONATOLOGIST (clinical case)

Abstract

Background. Leucinosis ("maple syrup urine disease ") is a hereditary disease with an autosomal recessive type of inheritance, the basis of which is a violation of the metabolism of organic amino acids. The disease is characterized by the development of a life-threatening condition, accompanied by developmental delay, suppression of neuro-reflex excitability, a specific smell of urine (the smell of "maple syrup"), ketoacidosis, hypoglycemia. There are five clinical phenotypes of leucinosis: classic, intermediate, intermittent, E3-deficient, and thiamine-sensitive. Aim: To expand the knowledge of pediatricians and neonatologists regarding the clinical and paraclinical features of the course of leucinosis. Materials and methods. The article presents a clinical case of clinical-paraclinical and molecular-genetic features of the course of leucinosis with manifestation in the neonatal period. Description of a clinical case. Boy I., from the third pregnancy, which occurred against the background of anemia of the 1st century and chronic pyelonephritis. The first pregnancy ended with the birth of a boy who died at the age of 2 months due to the manifestations of neonatal dehydration and convulsive syndrome (14 years ago); second pregnancy - miscarriage at 6 weeks of pregnancy. From the 5th day of life, the child's restlessness, refusal to eat, weak sucking and weight loss were noted. During the 7-8th day of life, the child had an expiratory moan. On the 9th day, tonic convulsions appeared. During the stay at the NICU, a positive result of neonatal screening for leucine was obtained twice. According to the results of the conducted molecular genetic research, a mutation of the BCKDHA gene, namely the variant c.632C>T (p.Thr 211 Met) was found in a homozygous state, which confirmed the diagnosis of type Ia leucinosis. Conclusion. The presented clinical case demonstrates that leucinosis is a disease that manifests non-specific and multisystem lesions, is difficult to diagnose and, in the case of untimely started specific treatment, rapidly progresses in the neonatal age and can lead to the development of metabolic decompensation and end in death.