Importance of acrocyanosis in delayed walking

YİŞ U., Polat I., Karakaya P., Ayanoglu M., HIZ A. S.

JOURNAL OF PEDIATRIC NEUROSCIENCES, sa.1, ss.80-81, 2015 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2015
  • Doi Numarası: 10.4103/1817-1745.154368
  • Dergi Adı: JOURNAL OF PEDIATRIC NEUROSCIENCES
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.80-81
  • Anahtar Kelimeler: Acrocyanosis, ethylmalonic encephalopathy, motor delay
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.