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
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Summary:	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.
ISSN:	1817-1745 1998-3948
DOI:	10.4103/1817-1745.154368