Abstract
BackgroundOnly a few small studies have previously reported episodes of hypoglycemia in children with neuromuscular diseases; however, there has been no broader investigation into the occurrence of hypoglycemia in children with congenital muscle disease (CMD).MethodsPediatric patients enrolled in the CMD International Registry (CMDIR) with a history of hypoglycemia were included in this retrospective review. Hypoglycemic episodes and associated clinical and biochemical characteristics were characterized.ResultsTen patients with CMD (5 with LAMA2-related muscular dystrophy) reported at least one episode of hypoglycemia beginning at an average age of 3.5 years. Predominant symptoms included altered mental status and nausea/vomiting, and laboratory studies demonstrated metabolic acidosis and ketonuria, consistent with ketotic hypoglycemia.ConclusionPatients with CMD may have an increased risk of hypoglycemia during fasting, illness, or stress due to their relatively low muscle mass and hence, paucity of gluconeogenic substrate. Clinicians should therefore maintain a high index of suspicion for hypoglycemia in this high-risk patient population and caregivers should routinely be trained to recognize and treat hypoglycemia.
Highlights
A few small studies have previously reported episodes of hypoglycemia in children with neuromuscular diseases; there has been no broader investigation into the occurrence of hypoglycemia in children with congenital muscle disease (CMD)
Bruce et al described two girls with spinal muscular atrophy type II with recurrent, severe hypoglycemic episodes that went unrecognized until the girls became comatose and were found to have blood glucose levels of 30–34 mg/dl (1.7–1.9 mmol/L) and metabolic acidosis [2]
Common triggers, and symptoms associated with hypoglycemia episodes as well as any accompanying biochemical abnormalities available
Summary
A few small studies have previously reported episodes of hypoglycemia in children with neuromuscular diseases; there has been no broader investigation into the occurrence of hypoglycemia in children with congenital muscle disease (CMD). Hypoglycemia, defined as a blood glucose level below 60 mg/dl (3.3 mmol/L) in infants and children [1], has been reported sporadically in children with neuromuscular disease [2, 3]. Bruce et al described two girls with spinal muscular atrophy type II (muscle mass only 10% of body weight) with recurrent, severe hypoglycemic episodes that went unrecognized until the girls became comatose and were found to have blood glucose levels of 30–34 mg/dl (1.7–1.9 mmol/L) and metabolic acidosis [2].
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
