Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency.
We have reported the first Tunisian case of triosephosphate isomerase (TPI) deficiency in a 2-year-old girl. She was the first child of a nonconsanguineous couple. The disease included a neonatal onset of chronic hemolytic anemia, recurrent low-respiratory infections then progressive neurological involvement. The diagnosis was made after her death from the TPI values of her parents who exhibited intermediate enzyme deficiency. Molecular study of TPI genes showed that the father and the mother are heterozygous for Glu105Asp mutation. Pediatricians must be alert to the differential diagnosis in patients having hemolytic anemia and other concomitant manifestations.
1Faculté de médecine de Tunis, Université Tunis Elmanar. Hôpital Mohamed Tlatli de Nabeul, pediatrics, Nabeul, Tunisia.
Khaoula
K
Aissa
Fatma
F
Kamoun
Lamia
L
Sfaihi
Elyes Slim
ES
Ghedira
Hajer
H
Aloulou
Thouraya
T
Kamoun
Serge
S
Pissard
Mongia
M
Hachicha
D019943:Amino Acid Substitution; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D009468:Neuromuscular Diseases / Q000209:etiology*; D010290:Parents; D014305:Triose-Phosphate Isomerase / Q000172:deficiency* / Q000235:genetics; D014416:Tunisia
D014305:Triose-Phosphate Isomerase
autosomal recessive inheritance; congenital hemolytic anemia; neuromuscular impairment