Мать и дитя в Кузбассе (Aug 2022)
CLINICAL CASE OF FAMILIAL DUCHENNE MYODYSTROPHY
Abstract
The article presents an analysis of a clinical case of the diagnosis of familial Duchenne myodystrophy in a newborn child confirmed in the neonatal period. The stages of diagnosis and their peculiarities are described. The first stage of diagnosis of familial Duchenne myodystrophy in our clinical observation was accidentally identified changes in the blood biochemical analysis of the newborn on the second day of life: high activity of aspartate aminotransferase, serum alanine aminotransferase. Later, anamnestic data were analyzed - as it turned out, there was already a child with Duchenne myodystrophy in the family. However, child's mother was not alert to the possibility of having another child with similar pathology: she was registered at 24 weeks late for pregnancy, prenatal diagnostics of hereditary diseases was not carried out in this pregnancy (shown at 12 weeks of pregnancy), genetic examination of a woman to detect carrier mutation in Duchenne myodystrophy gene was not carried out. Further, repeated targeted blood tests revealed increased creatine phosphokinase and lactate dehydrogenase activity. Finally, molecular-genetic examination confirmed a hereditary pathology – Duchenne myodystrophy in a newborn. The aim of the article is to present a clinical family case of progressive Duchenne muscular dystrophy and to show the peculiarities and difficulties of diagnosing this genetic pathology in the neonatal period. Conclusion. The description of a clinical case of familial Duchenne myodystrophy diagnosis in a newborn child confirmed in the neonatal period is a rare situation. The peculiarities of this case are shown taking into account the social status of the mother, anamnestic data, early blood biochemical changes. Two important, decisive and determining facts for deepening the diagnostic search (conducting a molecular genetic study) were two circumstances: a significant increase in the activity of the enzymes aspartate aminotransferase, serum alanine aminotransferase, creatine phosphokinase, lactate dehydrogenase and a history with an established diagnosis of familial Duchenne myodystrophy in a sibling.
