Obstetric outcome in a primigravid patient with autosomal-recessive multiminicore myopathy.

Abstract

Multiminicore disease is a congenital myopathy characterized by muscle weakness and respiratory impairment. Predilection for the development of malignant hyperthermia has been reported in select patients. Little is known about pregnancy outcomes, although patients with other neuromuscular disorders may experience a postpartum decline. We report a case of pregnancy associated with autosomal-recessive multiminicore disease. Genetic implications of this condition were addressed. Orthopedic complications were managed through physical medicine and rehabilitation consultation. Under epidural anesthesia, a healthy full-term neonate was delivered through spontaneous vaginal delivery. There was no evidence of malignant hyperthermia or functional decline in the puerperium. A successful pregnancy outcome was achieved in a patient with multiminicore myopathy by proactively addressing potential genetic, orthopedic, and anesthetic concerns associated with this condition.