title: Importance of acrocyanosis in delayed walking.
abstract: We present a four-year-old wth ethylmalonic encephalopathy who presented with delayed walking. She had bilateral hyperintense lesions in the basal ganglia. Molecular analysis revealed a homozygous c.3G>T mutation in the ETHE1 gene. She did not have typical findings of the disease including recurrent petechia, chronic diarrhea and acrocyanosis was very subtle and orthostatic. She benefited from riboflavine and Q10 treatments. We suggest that acrocyanosis should be questioned and examined in patients with motor delay.
authors: Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylül University, İzmir, Turkey.
authors: Uluç
authors: U
authors: Yiş
authors: Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylül University, İzmir, Turkey.
authors: İpek
authors: İ
authors: Polat
authors: Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylül University, İzmir, Turkey.
authors: Pakize
authors: P
authors: Karakaya
authors: Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylül University, İzmir, Turkey.
authors: Müge
authors: M
authors: Ayanoğlu
authors: Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylül University, İzmir, Turkey.
authors: Ayşe Semra
authors: AS
authors: Hiz
keywords: Acrocyanosis; ethylmalonic encephalopathy; motor delay