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Congenital myotonic dystrophy with persistent pulmonary hypertension in the newborn
並列摘要
Introduction: Congenital myotonic dystrophy type 1 (CDM1) is a trinucleotide repeat disorder with early onset of symptoms and high neonatal mortality. Most patients with CDM1 have ＞1000 CTG repeats; a high number of CTG repeats generally indicate severe disease. CDM1 complicated by persistent pulmonary hypertension in the newborn (PPHN) has seldom been reported, and all previously reported cases have resulted in neonatal death. Case Report: We present a neonate with CDM1 complicated by PPHN with early onset of symptoms and severe course of disease as a result of anticipation by maternal transmission. A triplet repeat primed polymerase chain reaction (TP-PCR) analysis showed CDM1 with only 800 CTG repeats. The patient was successfully treated by inotropic support and mechanical ventilation. Conclusion: This is the first reported case of CDM1 with PPHN that did not result in neonatal death. More information on association between PPHN and number of CTG repeats in neonates with CDM1 is needed.
延伸閱讀
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