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Neuroimaging fails to identify asymptomatic carriers of familial porencephaly
- Source :
- American Journal of Medical Genetics. 112:198-202
- Publication Year :
- 2002
- Publisher :
- Wiley, 2002.
-
Abstract
- Familial porencephaly is a rare condition usually transmitted as an autosomal dominant trait with incomplete penetrance. We describe a new family in which six members across four generations had congenital hemiplegia. Cerebral imaging was performed in three patients and showed porencephaly in all cases. In order to provide effective genetic counseling, three asymptomatic carriers were investigated by cerebral computerized tomography (three patients) and cerebral magnetic resonance imaging (one patient). These investigations failed to show any congenital abnormalities. We conclude that cerebral imaging is unreliable to detect obligate carriers of familial porencephaly.
- Subjects :
- Adult
Male
Telencephalon
Heterozygote
Pediatrics
medicine.medical_specialty
Adolescent
Genetic counseling
Genes, Recessive
Hemiplegia
Asymptomatic
Neuroimaging
medicine
Humans
Child
Genetics (clinical)
medicine.diagnostic_test
business.industry
Infant
Autosomal dominant trait
Magnetic resonance imaging
medicine.disease
Magnetic Resonance Imaging
Penetrance
Porencephaly
Pedigree
Female
medicine.symptom
Tomography, X-Ray Computed
business
Asymptomatic carrier
Subjects
Details
- ISSN :
- 10968628 and 01487299
- Volume :
- 112
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....a26e56b52b8d4f7214117ae3d9f1a260