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

Kılıç M., Şenel S., Karaer K., CEYLANER S.

The Turkish journal of pediatrics, vol.59, no.6, pp.708-710, 2017 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 6
  • Publication Date: 2017
  • Doi Number: 10.24953/turkjped.2017.06.016
  • Journal Name: The Turkish journal of pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.708-710
  • Keywords: ACADS, developmental delay, epilepsy, microcephaly, SCAD
  • Ankara Yıldırım Beyazıt University Affiliated: Yes

Abstract

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.