Status epilepticus and coma leading to death in a boy caused by Medium Chain Acyl CoA dehydrogenase deficiency
Iranian Journal of Child Neurology,
Vol. 15 No. 4 (2021),
1 October 2021
https://doi.org/10.22037/ijcn.v15i4.23925
Abstract
MCADD(Medium-chain acyl-coenzyme A dehydrogenase deficiency) is an autosomal recessive disorder of fatty acid β-oxidation with prevalence of 1/1000 EU(Europian) countries and some more prevalence in the middle east and Arabian countries with close relative marriage and Iran included. MCADD is the most common inborn error of metabolism fatty acid β-oxidation in Caucasian gender.Herein we report a 7-year old boy presenting with afebrile serial seizures followed by loss of consciousness and death. The patient was diagnosed with MCADD by metabolic screening test using mass spectrometry.
- Medium-chainacyl-coA dehydrogenase deficiency
- statusepilepticus
- Coma
How to Cite
References
Piña-Garza JE. Altered States of Consciousness. In: Piña-Garza JE, editor. Fenichel’s clinical pediatric neurology.7th ed. Philadelphia: Elsevier Saunders;2013.p.47-75.
. Mikati MA, Hani AJ. Seizures in Childhood. In:Kliegman RM, Stanton BF, St Geme JW, SchorNF, editors. Nelson Textbook of Pediatrics. 20th ed.Philadelphia: Elsevier;2016.p.2823-56.
KARIMZADEH P, TAGHDIRI MM, ABASI E, et al. Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression. Iranian Journal of Child Neurology. 2017;11(3):42-47.
Roman Yusupova,b,*, David N. Finegold c, Edwin W. Naylor, et al, Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency(MCADD) despite newborn screening. Molecular Genetics and Metabolism 101 (2010) 33–39.
Youssef-Turki I, Kraoua S, Smirani K, MariemH,BenRhouma A, Rouissi , Gouider-KhoujaN. EpilepsyAspects and EEG Patterns in Neuro-Metabolic Diseases.JBehav Brain Sci2011; 1(2)
Wolf NI, Bast T, Surtees R. Epilepsy in inborn errors of metabolism. Epileptic Disord. 2005; 7(2):67-81.
U. Nennstiel-Ratzel, S. Arenz, E.M. Maier, I. Knerr, J. Baumkِtter, W.Rِschinger, et al., Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening, Mol. Genet. Metab. 85 (2005)157–159.
S.S. Wang, P.M. Fernhoff, M.J. Khoury, Is the G985A allelic variantof medium-chain acyl-CoA dehydrogenase a risk factor for sudden infant death syndrome? A pooled analysis, Pediatrics 105 (2000)1175–1176.
H.W. Hsu, T.H. Zytkovicz, A.M. Comeau, A.W. Strauss, D. Marsden, V.E. Shih,et al., Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening, Pediatrics 121 (2008) 1108–1114.
J.A. Perper, M. Ahdab-Barmada, Fatty liver, encephalopathy, and suddenunexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency, Am. J. Forensic Med. Pathol. 13 (1992) 329–334.
M.J. Bennett, P. Rinaldo, D.S. Millington, K. Tanaka, I. Yokota, P.M. Coates,Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling,Pediatr. Pathol. 11 (1991) 889–895.
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