Pregnancy in a Woman with a Congenital Type of Nemaline Myopathy

Abstract

Introduction: Congenital nemaline myopathy is a genetically heterogeneous disease caused by gene defects in a number of genes: nebulin (2q21-22) alpha-tropomysin (1q21-23), alpha-actin (1q42) and others. Nemaline myopathy can be inherited as an autosomal recessive or dominant trait. Case report: We present a case of the first pregnancy in a woman with a congenital type of nemaline myopathy, with a severe pulmonary involvement, in the Czech Republic. Course of pregnancy: The woman got spontaneously pregnant less than two months after a respiratory failure, when she had to be tracheostomized, remained dependent on portable ventilator support. The patient strictly refused artificial abortion recommended to her. Until the 22nd gestational week she was stabilized in terms of ventilation and received health care at home. Subsequently, she was repeatedly admitted to the hospital for lung infection to ICU of the Department of Intensive Care. The fetus was developing proportionately, without signs of muscle hypotonia, but after the 23rd g.w. was diagnosed with slightly progressive polyhydramnios. Childbirth: It was decided to schedule termination of the pregnancy by a caesarean section for the 30th g.w., during the interval of the patient´s relatively satisfactory clinical respiratory and mental stabilization. A boy was born (1120g) and was transferred to the NICU. The newborn required artificial pulmonary ventilation, from the 3rd day he was extubated, with intermittent use of nasal CPAP until the 9th day. Results: The baby prospered, tolerated food and showed no signs of muscle hypotonia. A postoperative course of the mother went without any complications. On the 8th postoperative day she was discharged from the hospital, ventilator-dependent and with tracheostomy in place. Conclusion: Pregnancy in women with a congenital type of nemaline myopathy with a severe lung involvement is a challenge for physicians. Based on the course of pregnancy it is necessary to decide when its termination will be safe for both the mother and the fetus. The care of the patient requires a multidisciplinary approach.