A case of congenital malformation of the brain in a newborn on the background of hereditary metabolic disorders

Abstract

A clinical observation of congenital malformation of the brain in a newborn child is presented. Diagnosis and comprehensive treatment of newborns with such pathology is extremely difficult due to the variety of causes that cause irreversible structural defects of brain tissue in violation of its normal pre- or postnatal development. The uniqueness of this case is the postnatal detection of multiple malformations in a newborn child against the background of a complex clarification of the nature of hereditary metabolic disorders. Unfortunately, in this clinical case, the relatively early diagnosis of peroxisomal pathology did not allow a complete clinical diagnosis to be made quickly and specific therapy to be given to the child, which made the prognosis of the disease more difficult. Only a further in-depth examination (consultations of a geneticist, neurologists, MRI of the brain, medical and genetic research) allowed us to clarify the nature of the pathology. Delayed clarification and confirmation of the cause of encephalomyelopathy (peroxisomal disease) is associated with the material and technical capabilities of children's hospitals, although this did not affect the timing of the start and volume of complex symptomatic therapy for the child.