CASE HISTORY OF METACHROMATIC LEUKODYSTROPHY OF 5 YEAR OLD CHILD

Abstract

Leukodystrophy is a group of genetic neurodegenerative diseases affecting mainly the white matter of the brain. Spread ofleukodystrophies in the world is 1:40-100 thousand, however, these diseases have fatal consequences for life, serious predictions forhealth and social adaptation. Among all forms of leukodystrophies, metachromatic leukodystrophy attracts the attention of specialists.It is a rare hereditary disease from the group of lysosomal storage diseases with autosomal recessive inheritance mechanism of lipidmetabolism disorders. It is caused by a mutation in the ARSA gene, the absence or defi ciency of which leads to impaired degradationof lipids – sulfates, which results in accumulation of a metachromatic lipid substance in the nervous system (myelin, neurons, glia),leading to diff use demyelination.This article describes the case history of a 5-year-old child with metachromatic leukodystrophy. The boy was born at term. Pregnancyand delivery were without any abnormalities. The family heredity is not burdened. During the fi rst year of life the child’s physical andpsychomotor development corresponded to the age. The onset of the disease was noticed at the age of 1 year and 2 months during thefi rst visit to the neurologist, when the parents complained about gait disturbances when the child tried to walk, frequent falls, muscularhypotension with postural disturbances. In the second year of his life, the child was treated in the neurology department with the diagnosisof cerebral spastic paraparesis. Due to the ineff ective treatment, the child was referred to the National Specialized Children’s Hospitalof the Ministry of Health of Ukraine «OKHMATDYT» for examination, where he was diagnosed with metachromatic leukodystrophy,late infantile form МРТ on the basis of medical- genetic tests and MRI of the brain.In the past medical history, since the age of 2 years the child’s nutritional status has signifi cantly deteriorated – impairment of chewing and swallowing functions, and since the age of 4 years the child has been prescribed nutrition through a feeding tube. Taking into account the fact that at the age of 5 years the child suff ered from protein- energy defi ciency of the ІІІ stage (total weight was 9800 g), the doctor calculated the daily energy and protein intake with the use of therapeutic high-protein and high-energy mixture, due to which the child gained weight (he gained 7 kg in 6 months). In the course of time, at the age of 5 years, epilepsy with generalized seizures was diagnosed for the fi rst time and anticonvulsant therapy was prescribed and showed positive dynamics. The doctors discussed the need for palliative care for children with this pathology and psychological support for families, involving an interdisciplinary team of specialists (neurologists, psychologists, rehabilitation therapists).