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DOI: 10.1055/a-2505-8378
Neonatal Rhabdomyolysis: A Case Report and Review of the Literature
Funding None.Abstract
Rhabdomyolysis is a potentially life-threatening condition in pediatric patients, often triggered by various factors, such as infections, trauma, hereditary metabolic disorders, and certain medications. Elevated creatine kinase levels are commonly observed in newborns and are often attributed to factors such as hypoxia, labor dystocia, and birth trauma. However, rhabdomyolysis in this population is rare and typically associated with hereditary metabolic disorders, medications, or infections. In this report, we describe the case of a neonate diagnosed with very long-chain acyl-CoA dehydrogenase deficiency after markedly elevated creatine kinase levels and rhabdomyolysis were identified during the neonatal period. Additionally, we suggested a guideline for the evaluation of creatine kinase elevation and rhabdomyolysis in neonates.
Publication History
Received: 17 September 2024
Accepted: 13 December 2024
Accepted Manuscript online:
19 December 2024
Article published online:
09 January 2025
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References
- 1 Khan FY. Rhabdomyolysis: a review of the literature. Neth J Med 2009; 67 (09) 272-283
- 2 Mannix R, Tan ML, Wright R, Baskin M. Acute pediatric rhabdomyolysis: causes and rates of renal failure. Pediatrics 2006; 118 (05) 2119-2125
- 3 Szugye HS. Pediatric rhabdomyolysis. Pediatr Rev 2020; 41 (06) 265-275
- 4 Watemberg N, Leshner RL, Armstrong BA, Lerman-Sagie T. Acute pediatric rhabdomyolysis. J Child Neurol 2000; 15 (04) 222-227
- 5 Scott Schwoerer J, Cooper G, van Calcar S. Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency. Mol Genet Metab Rep 2015; 3 (03) 39-41
- 6 Alhashem A, Mohamed S, Abdelraheem M, AlGufaydi B, Al-Aqeel A. Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: a single-center experience in Saudi Arabia. Saudi Med J 2020; 41 (06) 590-596
- 7 Anderson S, Brooks SS. When the usual symptoms become an unusual diagnosis: a case report of trifunctional protein complex. Neonatal Netw 2013; 32 (04) 262-273
- 8 Veenvliet ARJ, Garrelfs MR, Udink Ten Cate FEA. et al. Neonatal long-chain 3-ketoacyl-CoA thiolase deficiency: clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography. Mol Genet Metab Rep 2022; 31 (31) 100873
- 9 Saunier P, Chretien D, Wood C. et al. Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria. Neuromuscul Disord 1995; 5 (04) 285-289
- 10 Kido J, Matsumoto S, Sawada T, Endo F, Nakamura K. Rhabdomyolysis in organic acidemia patients manifesting with metabolic decompensation. Hemodial Int 2019; 23 (04) E115-E119
- 11 Lok A, Fernandez-Garcia MA, Taylor RW. et al. Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: expanding the phenotypical spectrum of PPCS-related disorders. Am J Med Genet A 2022; 188 (09) 2783-2789
- 12 Stanescu S, Belanger-Quintana A, Alcalde Martin C. et al. Beneficial effect of N-carbamylglutamate in a neonatal form of multiple acyl-CoA dehydrogenase deficiency. Case Rep Pediatr 2020; 2020: 1370293
- 13 Meyer S, Martin T, Löffler G, Gortner L. Severe rhabdomyolysis caused by valproic acid in a neonate with seizures and chromosomal abnormalities. Klin Padiatr 2011; 223 (07) 434-435
- 14 Michel-Macías C, Morales-Barquet DA, Reyes-Palomino AM, Machuca-Vaca JA, Orozco-Guillén A. Single dose of propofol causing propofol infusion syndrome in a newborn. Oxf Med Case Rep 2018; 2018 (06) omy023
- 15 Ames EG, Scott AJ, Pappas KB, Moloney SM, Conway RL, Ahmad A. A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines. Am J Med Genet A 2020; 182 (11) 2704-2708