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2020, Number 3

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Rev Cubana Pediatr 2020; 92 (3)

Clinical expression of congenital myotonic dystrophy

Licourt OD, Travieso TA, Orraca CM, Sainz PL

Language: Spanish
References: 14
Page: 1-9
PDF size: 399.40 Kb.


ABSTRACT

Introduction: Congenital myotonic dystrophy is a clinical form that produces the most severe phenotypic expression, with high morbility and mortality in the first months of life mainly due to respiratory complications.
Objective: To describe a serie of cases with clinical expression of congenital myotonic dystrophy.
Cases presentation: The serie was formed by 4 patients with diagnosis of the disease in Pinar del Río province, Cuba. The study was made from January, 2015 to December, 2019. There were reviewed the clinical, epidemiological and genetic characteristics of this entity. There were analyzed prenatal and perinatal backgrounds of each case, phenotypic manifestations, the family records and the prevalence calculations. In 100% of the cases it was presented preterm birth with severe neonatal depression and hypotonia. Among the prenatal backgrounds, it was described the decrease of the fetal movements and polyhydramnios in the 75 and 50% of the cases, respectively. All the patients were descendants of affected mothers. The main complications that led to morbility and mortality in 100% of the cases were the ones related with the respiratory system, hydrolectrolitic disorders and associated infections.
Conclusions: In the neonatal period are important the prenatal-perinatal records of patients with myotonic dystrophy. This background shows events that are part of the fetal hypokinesia´s sequence caused by intrauterine neuromuscular affectation. Family background and especially when the mother is affected lead to severe expressions in the descendants.


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