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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents



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ID: 178164.0, MPI für molekulare Genetik / Research Group Development and Disease
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)
Authors:Knoblauch, Hans; Tennstedt, Cornelia; Brueck, Wolfgang; Hammer, Hannes; Vulliamy, Tom; Dokal, Inderjeet; Lehmann, Rüdiger; Hanefeld, Folker; Tinschert, Sigrid
Language:English
Date of Publication (YYYY-MM-DD):2003-07
Title of Journal:American Journal of Medical Genetics
Journal Abbrev.:Am J Med Genet
Volume:120A
Issue / Number:2
Start Page:261
End Page:265
Copyright:© 2003 Wiley-Liss, Inc.
Review Status:not specified
Audience:Experts Only
Abstract / Description:Clinical, pathological, and X-ray findings of two brothers with features resembling congenital intrauterine infection-like syndrome are presented. Extensive screening for intrauterine infection was performed. Nevertheless all confirmatory tests were normal. Both brothers showed extensive intra- and extra-cranial calcifications, thrombocytopenia, a septum pellucidum cyst, one-sided paresis of the diaphragm, and metaphyseal changes on X-ray scans resembling intrauterine infection. Within the first days of life, they developed seizures and died from severe cerebral hemorrhage. The MRI scan of the brain showed cerebellar hypoplasia in one of the boys, while the cerebellum had normal size in the other. No indication of a metabolic disorder, especially in calcium metabolism, was identified. Due to the clinical overlap with Hoyeraal-Hreidarsson syndrome, mutations in the DKC1 gene (Xq28) and the hTR gene (RNA component of telomerase on chromosome 3q) have been excluded. The parents are non-consanguineous and further family history was unremarkable. The findings in these boys overlap with features described in congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).
Free Keywords:TORCH; intracranial calcification; thrombocytopenia; cerebellar hypoplasia
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:Institut für Medizinische Genetik, Medizinische Fakultät Charité, Humboldt Universität zu Berlin, Germany
Institut für Pathologie, Medizinische Fakultät Charité, Humboldt Universität zu Berlin, Germany
harité, Humboldt Universität zu Berlin, Germany
Kinderklinik, Medizinische Fakultät Charité, Humboldt Universität zu Berlin, Germany
Department of Haematology, Hammersmith Hospital, London, United Kingdom
Institut für Neuroradiologie, Medizinische Fakultät Charité, Humboldt Universität zu Berlin, Germany
Kinderklinik, Abteilung Neuropädiatrie, Georg-August Universität Göttingen, Germany
Identifiers:ISSN:1096-8628 [ID No:1]
ISSN:0148-7299 [ID No:2]
DOI:10.1002/ajmg.a.20138 [ID No:3]
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