Importance of acrocyanosis in delayed walking.
J Pediatr Neurosci
; 10(1): 80-1, 2015.
Article
en En
| MEDLINE
| ID: mdl-25878756
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Idioma:
En
Revista:
J Pediatr Neurosci
Año:
2015
Tipo del documento:
Article
País de afiliación:
Turquía