A male fetus with aqueductal stenosis and four accessory spleens. A case report with a tentative genetic explanation.
A male fetus presenting with prenatal hydrocephalus is reported. The fetus died during labor. Pathological examination disclosed four accessory spleens without any abnormalities of the situs. Hydrocephalus was secondary to aqueductal stenosis. Histological features of the aqueduct were consistent with a developmental defect. The association of such malformations has already been reported and could be explained by common regulatory mechanisms which control the splenic and neural tube development.
Catala
M
M
Service d'Histologie, Embryologie et Cytogénétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Aubert
V
V
Lesourd
S
S
Héron
D
D
Vauthier-Brouzes
D
D
Harpey
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001921:Brain / Q000473:pathology; D002535:Cerebral Aqueduct / Q000002:abnormalities* / Q000473:pathology; D004200:Diseases in Twins / Q000235:genetics; D004420:Dystocia / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D013154:Spleen / Q000002:abnormalities* / Q000473:pathology