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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Bibliographic Details

Published in:	Journal of pediatric neurosciences Vol. 10; no. 1; pp. 80 - 81
Main Authors:	Yiş, Uluç, Polat, İpek, Karakaya, Pakize, Ayanoğlu, Müge, Hiz, Ayşe Semra
Format:	Journal Article
Language:	English
Published:	India Medknow Publications and Media Pvt. Ltd 01-01-2015 Medknow Publications & Media Pvt. Ltd Medknow Publications & Media Pvt Ltd
Subjects:	Care and treatment Case Report Case studies Cyanosis Diagnosis Encephalopathy ethylmalonic encephalopathy motor delay Acrocyanosis
Online Access:	Get full text
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