Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency

• Published in: Turkish journal of pediatrics Vol. 59; no. 6; pp. 708 - 710
• Main Authors: Kılıç, Mustafa, Şenel, Saliha, Karaer, Kadri, Ceylaner, Serdar
• Format: Journal Article
• Language: English
• Published: Turkey Hacettepe University Faculty of Medicine 2017
• Subjects: Autism; Birth defects; Dehydrogenases; Epilepsy; Hypoglycemia; Infections; Mass spectrometry; Medical screening; Metabolic disorders; Metabolites; Microcephaly; Mutation; NMR; Nuclear magnetic resonance; Oxidative stress; Proteins; Scientific imaging; Vitamin B; epilepsy; microcephaly; developmental delay; SCAD; ACADS
• ISSN: 0041-4301; 2791-6421
• DOI: 10.24953/turkjped.2017.06.016

Kılıç M, Şenel S, Karaer K, Ceylaner S. Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency. Turk J Pediatr 2017; 59: 708-710. We report a four-year-old girl who presented with intrauterine growth retardation, mild dysmorphism, cleft palate, microcephaly, developmental delay, epilepsy and recurrent lower respiratory tract infection and diagnosed short-chain acyl-CoA dehydrogenase deficiency. Metabolic evaluation and molecular analysis confirmed the diagnosis. In spite of many patients already known in literature, this is one of the rarest reports of a Turkish patient. This suggests selective metabolic screening should be done in every patient with unknown etiology of neurological disorder. Furthermore, newborn screening using tandem mass spectrometry may prevent this severe neurological impairment.