X-linked recessive aqueductal stenosis without macrocephaly.
A normocephalic, severely retarded boy with a family history suggesting aqueductal stenosis was found by computerized tomography to have aqueductal stenosis. His parents' concurrent pregnancy was monitored by ultrasonography and amniocentesis; these disclosed a male fetus which developed marked hydrocephalus after the 20th week. The pregnancy was terminated and an autopsy of the fetus demonstrated several major CNS malformations in addition to a very narrowed aqueduct. This case illustrates the diffuse CNS disease present in at least some cases of X-linked aqueductal stenosis (XLAS) and the importance of considering this variable syndrome in normocephalic, non-dysmorphic mentally retarded males. Important aspects of the prenatal diagnosis of XLAS are also illustrated.
Kelley
R I
RI
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia.
Mennuti
M T
MT
Hickey
W F
WF
Zackai
E H
EH
D002535:Cerebral Aqueduct / Q000002:abnormalities*; D002648:Child; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014960:X Chromosome