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Two brothers with findings resembling congenital intrauterine infection‐like syndrome (pseudo‐TORCH syndrome)
Author(s) -
Knoblauch Hans,
Tennstedt Cornelia,
Brueck Wolfgang,
Hammer Hannes,
Vulliamy Tom,
Dokal Inderjeet,
Lehmann Rüdiger,
Hanefeld Folker,
Tinschert Sigrid
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20138
Subject(s) - medicine , cerebellar hypoplasia (non human) , pathology , paresis , consanguinity , hypoplasia , pediatrics , anatomy , cerebellum , surgery
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). © 2003 Wiley‐Liss, Inc.