Importance of acrocyanosis in delayed walking

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 recurr...

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Veröffentlicht in:	Journal of pediatric neurosciences 2015-01, Vol.10 (1), p.80-81
Hauptverfasser:	Yiş, Uluç, Polat, İpek, Karakaya, Pakize, Ayanoğlu, Müge, Hiz, Ayşe Semra
Format:	Artikel
Sprache:	eng
Schlagworte:	Care and treatment Case Report Case studies Cyanosis Diagnosis Encephalopathy
Online-Zugang:	Volltext
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