[Pelger-Huët anomaly and hereditary elliptocytosis in 2 siblings].
The Pelger-Huët anomaly (PHA) and the hereditary elliptocytosis (HE) are alterations affecting leukocytes and erythrocytes, respectively. Most of the affected individuals do not present clinic manifestations and are casually detected in the laboratory. The PHA and HE were described related to other hereditary and congenital conditions, but rarely have been found in the same individual. In this paper are reported discovery of the PHA and HE combined both in sister and brother, with global delay of development and peculiar physical characteristics. Blood smears of both showed an increase of bilobed neutrophils and elliptic erythrocytes. The family study showed two more members of the mother's branch affected with HE. The PHA could not be found in the parents, nor the other members of both branches. The early deaths or in uterus of three sibs of the propositus are appointed. The absence of the PHA in both parents of the affected individuals,--without discarding the illitimacy possibility--, can be explained by an incomplete genetic penetrance. The early or in uterus deaths of three sibs of the propositus seems possible that in some cases the combination of PHA and HE could be lethal. Possibly in Mexico this may be the first report of the presentation of the PHA and HE simultaneously in the same individual.
Urbina-Guerrero
J R
JR
Departamento de Pediatría, Sistema Nacional para el Desarrollo Integral de la Familia (DIF), México, D.F.
Muñoz-Quiles
I
I
Linaldi-Camacho
A
A
D000328:Adult; D002648:Child; D002675:Child, Preschool; D004612:Elliptocytosis, Hereditary / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010381:Pelger-Huet Anomaly / Q000150:complications* / Q000235:genetics
Anomalía de Pelger-Huët y eliptocitosis hereditaria en 2 hermanos.