title: Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).
abstract: 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).
authors.affiliation: Institut für Medizinische Genetik, Medizinische Fakultät Charité, Humboldt Universität zu Berlin, Germany.
authors.forename: Hans
authors.initials: H
authors.lastname: Knoblauch
authors.forename: Cornelia
authors.initials: C
authors.lastname: Tennstedt
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Brueck
authors.forename: Hannes
authors.initials: H
authors.lastname: Hammer
authors.forename: Tom
authors.initials: T
authors.lastname: Vulliamy
authors.forename: Inderjeet
authors.initials: I
authors.lastname: Dokal
authors.forename: Rüdiger
authors.initials: R
authors.lastname: Lehmann
authors.forename: Folker
authors.initials: F
authors.lastname: Hanefeld
authors.forename: Sigrid
authors.initials: S
authors.lastname: Tinschert
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002871:Chromosome Banding; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D011296:Prenatal Diagnosis; D035781:Siblings; D013577:Syndrome; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000473:pathology; D014057:Tomography, X-Ray Computed; D016216:Ultrasonography, Prenatal