Another observation with VATER association and a complex IV respiratory chain deficiency.
The VATER association of vertebral anomalies (V), anal atresia (A), esophageal atresia and/or tracheo-esophageal fistula (TE), radial and renal anomalies (R) is a common congenital association of unknown origin with probably heterogeneous causes. Here, we report on a girl presenting with pre- and postnatal growth retardation, esophageal atresia, vertebral and costal anomalies and a unilateral radial defect, consistent with the diagnosis of VATER association. In the first month of life, she presented with failure to thrive, severe episodes of hypoglycemia, liver dysfunction and high levels of lactate, which prompted us to perform metabolic screening. A complex IV respiratory chain deficiency (RCD) was diagnosed on a liver biopsy. The respiratory chain defect was not observed in skin fibroblasts. No mtDNA point mutation or deletion was identified. The girl is now 9 years old and has a normal mental development but persistent feeding difficulties and moderate hyperlactatemia. To our knowledge, this is the second report of VATER association with mitochondrial disorder. In a previous report, a VACTERL association was observed in a girl with the mitochondrial A3243G point mutation. The association of VATER phenotype with a mitochondrial disorder may be coincidental but could also suggest that the presence of multiple malformations is the result of the antenatal expression of RCD.
Thauvin-Robinet
Christel
C
Centre de génétique, hôpital d'enfants, Dijon, France.
Faivre
Laurence
L
Huet
Frédéric
F
Journeau
Pierre
P
Glorion
Christophe
C
Rustin
Pierre
P
Rötig
Agnès
A
Munnich
Arnold
A
Cormier-Daire
Valérie
V
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D028361:Mitochondrial Diseases / Q000150:complications* / Q000235:genetics