Pulmonary hypertension of the newborn and urogenital anomalies in two male siblings: a new family with misalignment of pulmonary vessels.
The association of pelvi-ureteric junction obstruction (PUJO) and rapidly fatal persistent pulmonary hypertension of the newborn (PPHN) has been observed in two male siblings. PUJO was also observed in a maternal uncle, whose daughter suffered from vesico-ureteral reflux (VUR). In both patients, histopathologic study of the lungs showed misalignment of pulmonary veins (MAPV), which is a rare autosomal recessive condition leading to severe PPHN and death within the neonatal period. It has occasionally been described associated with PUJO. The authors point out that: i: MAPV has to be carefully searched in case of PPHN; ii: PUJO could be an important finding associated with MAPV, and the only prenatal indication of this lethal condition.
Manouvrier-Hanu
S
S
Service de Pédiatrie et Génétique Médicale, Hôpital Huriez, Lille, France.
Devisme
L
L
Farre
I
I
Hue
V
V
Storme
L
L
Kacet
N
N
Boute-Benejean
O
O
Farriaux
J P
JP
D006801:Humans; D006869:Hydronephrosis / Q000150:complications*; D006976:Hypertension, Pulmonary / Q000150:complications* / Q000503:physiopathology; D007223:Infant; D007231:Infant, Newborn; D008168:Lung / Q000098:blood supply* / Q000503:physiopathology; D008297:Male; D011667:Pulmonary Veins / Q000503:physiopathology* / Q000648:ultrastructure