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 CASE REPORT
Year : 2015  |  Volume : 10  |  Issue : 1  |  Page : 80-81

Importance of acrocyanosis in delayed walking


Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylül University, Izmir, Turkey

Correspondence Address:
Uluç Yis
Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylül University, Izmir
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.154368

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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.






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