Congenital fiber-type disproportion presenting with type II respiratory failure after delivery:A case report

BACKGROUND Congenital fiber-type disproportion(CFTD)is a form of congenital myopathy.CFTD is rare,especially when presenting in patients with critical illnesses.Here,we report a case of CFTD presenting with type II respiratory failure after delivery and provide a review of the literature on CFTD.CASE SUMMARY A 30-year-old woman was admitted to the obstetrics department of our hospital with premature rupture of the fetal membrane and with 7 h of regular contractions.After delivery,the patient experienced a refractory type II respiratory failure.Physical examination along with diagnostic procedures such as electromyography and biopsy confirmed CFTD.Use of invasive ventilator followed by intermittent use of noninvasive ventilator attenuated her symptoms.The patient recovered after ventilator-assisted respiration and was weaned off the noninvasive ventilator on the seventh day postpartum.CONCLUSION Congenital myopathy should be considered a differential diagnosis for type II respiratory failures that cannot be attributed to other diseases.

A Case Series on Central Core Disease in Pregnancy

Congenital myopathies are a group of minimally progressive or non-progressive neuromuscular conditions which is present from birth. A classical type of congenital myopathy is called central core disease. This condition is often confused with muscular dystrophy. Central core disease can be associated with comorbidities which affect pregnancy and its management. In this case series, we describe two cases, who are siblings affected by the same condition but at varied levels and their management during pregnancy. We also would like to illustrate a management plan for congenital myopathy during pregnancy, for a good maternal and fetal outcome.

The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications

According to existing reports,mutations in the slow tropomyosin gene(TPM3)may lead to congenital fiber-type disproportion(CFTD),nemaline myopathy(NM)and cap myopathy(CD).They are all congenital myopathies and are associated with clinical,pathological and ge-netic heterogeneity.A ten-year-old girl with scoliosis was unable to wean from mechanical ventilation after total intravenous anesthesia.The girl has scoliosis,respiratory insufficiency,motion delay and muscle weakness;her younger brother has a similar physiology but does not have scoliosis or respiratory insufficiency,and her parents are healthy.We conducted genetic testing and found a c.502C>G(p.R168G)heterozygous mutation in the family.This mutation originated from the father and was autosomal dominant.Muscle biopsy results indicated that no special structures were present,and the type I fiber ratio was not notably high compared to previous reports.Although the family members have the same mutations,their clinical mani-festations are quite different.