TAILIEUCHUNG - Hypoglycemia in patients with congenital muscle disease

Only 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). | Hayes et al. BMC Pediatrics 2020 20 57 https s12887-020-1909-5 RESEARCH ARTICLE Hypoglycemia in patients with congenital muscle disease Open Access Check for updates I zx r-1 I zx I_I I_I Tt mr 1 2 D zx zvx I 1 I zx 1 Y Dxr r zvx l ỉ r lx irml1 E I zx X ỉ I r z X f zx3 c X zx zJ z X rAzx zx Izzx z Z X X z 1 l ỉ E I zx X z lx 1 4 Leslie H. Hayes rOmi Yun Payam MOhassei Gina Norato Sandra Donkervoort Meganne E. Leach D X z lx zx I A k X ZA- 5 6 A zx zx zx Di if- Izzxt A Ị r Izi 5 6 7 t I X X I I J rA c kx X t A 8 A D J zx lx X zx E zx I zx f1 X zx z-1 c X V r-f-zx zx E D zx zx zx zx zxx X zx zx 1 Rachel Alvarez Anne ruikowski Natalie D. Shaw A. Reghan Foley ana Carsten G. Bonnemann Abstract Background Only 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 . Methods Pediatric 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. Results Ten patients with CMD 5 with LAMA2-related muscular dystrophy reported at least one episode of hypoglycemia beginning at an average age of years. Predominant symptoms included altered mental status and nausea vomiting and laboratory studies demonstrated metabolic acidosis and Ketonuria consistent with Ketotic hypoglycemia. Conclusion Patients 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. Keywords Hypoglycemia Ketotic hypoglycemia .

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