Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency
The Turkish journal of pediatrics, cilt.59, sa.6, ss.708-710, 2017 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 59 Sayı: 6
- Basım Tarihi: 2017
- Doi Numarası: 10.24953/turkjped.2017.06.016
- Dergi Adı: The Turkish journal of pediatrics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.708-710
- Anahtar Kelimeler: ACADS, developmental delay, epilepsy, microcephaly, SCAD
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Evet
Özet
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.