Genetic syndromes mimic congenital infections

Sanchís, Amparo; Cerveró, L.; Bataller, A.; Tortajada, J.L.; Huguet, J M; Crow, Yanick J.; Ali, Manir; Higuet, L.J.; Martı́nez-Frı́as, María Luisa

doi:10.1016/j.jpeds.2005.01.033

Cited by 54 publications

(31 citation statements)

References 16 publications

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“…Several reports since then confirm that IFNa is elevated in AGS patients and is often used in the diagnosis of this disease (Dimova and Mikova, 2005;Goutières et al, 1998;Kothare et al, 2006;Lanzi et al, 2002Lanzi et al, , 2005Rasmussen et al, 2005;Sanchis et al, 2005). Using a multiplexed luminex assay, we were able to confirm that IFNa is elevated in the CSF of AGS patients and that this increase is statistically significant.…”

Section: Discussionsupporting

confidence: 65%

“…Radiological imaging and neuropathology features of AGS include calcifications of the basal ganglia and white matter destruction (Goutieres, 2005;Lanzi et al, 2002;Rice et al, 2007b). Because these symptoms are also manifestations of congenital infection with TORCH agents (toxoplasmosis, other viruses such as HIV, rubella virus, cytomegalovirus, and herpes simplex virus [HSV]) (Malm and Engman, 2007;Sanchis et al, 2005), the diagnosis of AGS is confirmed after exclusion of these etiologies. The prevalence of AGS is possibly underestimated due to misdiagnosis of microbial infection.…”

Section: Introductionmentioning

confidence: 99%

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Astrocytes produce interferon‐alpha and CXCL10, but not IL‐6 or CXCL8, in aicardi‐Goutières syndrome

Heteren

Rozenberg

Aronica

et al. 2008

Glia

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Aicardi-Goutières syndrome (AGS) presents as a severe autosomal recessively inherited neurological brain disease. Clinical and neurological manifestations closely resemble those of congenital viral infection and are generally attributed to a perturbation of innate immunity including a long lasting lymphocytosis and production of interferon-alpha (IFNalpha) in the central nervous system. To clarify the innate immune response evoked in these diseases, we used a 30-mer multiplexed luminex system to measure multiple cytokines and growth factors in the cerebrospinal fluid and serum of patients with AGS and viral meningitis or encephalitis, and febrile controls in whom infection could not be substantiated. In addition to the previously described IFNalpha, both AGS and viral diseases were characterized by expression of CXCL10 and CCL2. In contrast to AGS, viral infection resulted in high levels of IL-6 and CXCL8 in the CNS. Postmortem immunohistochemical staining of brain sections showed that in both AGS and viral CNS infection, astrocytes were responsible for the production of cytokines and not the infiltrating leukocytes. In summary, our data indicate that astrocytes are the predominant cell type responsible for the production of IFNalpha and CXCL10 in AGS. Whereas IFNalpha is assumed to be involved in the neurodegeneration, calcifications and seizures in AGS, CXCL10 may act as the chemoattractant responsible for the influx of activated lymphocytes into the brain. The lack of the inflammatory cytokines IL-6 and CXCL8 in AGS suggest that the neuroinflammatory reaction in this disease is distinct from viral disease.

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Section: Discussionsupporting

confidence: 65%

Section: Introductionmentioning

confidence: 99%

Astrocytes produce interferon‐alpha and CXCL10, but not IL‐6 or CXCL8, in aicardi‐Goutières syndrome

Heteren

Rozenberg

Aronica

et al. 2008

Glia

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“…Clarification of the genetic basis of AGS and expansion of the AGS phenotype [Stephenson et al, 1997;Crow et al, 2000Crow et al, , 2003Sanchis et al, 2005;Rice et al, 2007] suggests that this distinction is not appropriate so that the previous OMIM entry for pseudo-TORCH syndrome (251290) has been withdrawn and moved to the AGS (225750) entry. However, we note that a number of other congenital infection-like phenotypes, obviously distinct from AGS, have also been described [e.g., Slee et al, 1999;Vivarelli et al, 2001;Knoblauch et al, 2003;Gardner et al, 2005;Watts et al, 2008].…”

Section: Discussionmentioning

confidence: 99%

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

Briggs

Wolf

D’Arrigo

et al. 2008

American J of Med Genetics Pt A

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The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients—two male–female sibling pairs, one pair born to consanguineous parents, and an unrelated female—with a distinct pattern of band‐like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post‐natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable “pseudo‐TORCH” phenotype inherited as an autosomal recessive trait. © 2008 Wiley‐Liss, Inc.

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“…In Case 2, it was related to parvovirus infection and the fetus received repeated transfusions [7,8]. In Case 1, a congenital viral infection was also suspected but no infectious agent could be identified, raising the possibility of a pseudo-TORCH syndrome [9][10][11][12]. The GRACILE syndrome, which combines Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactacidosis and Early death, was excluded by genetic screening.…”

Section: Discussionmentioning

confidence: 99%

Fetal liver iron overload: the role of MR imaging

et al. 2010

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Objective To assess the potential role of MR imaging in the diagnosis of fetal liver iron overload. Methods We reviewed seven cases of abnormal liver signal in fetuses referred to MR imaging in a context of suspected congenital infection (n=2), digestive tract anomalies (n=3) and hydrops fetalis (n=2). The average GA of the fetuses was 31 weeks. The antenatal diagnoses were compared with histological data (n=6) and postnatal work-up (n=1). Results Magnetic resonance imaging demonstrated unexpected abnormal fetal liver signal suggestive of iron overload in all cases. The iron overload was confirmed on postnatal biopsy (n=2) and fetopathology (n=4). The final diagnosis was hepatic hemosiderosis (haemolytic anaemia (n=2) and syndromal anomalies (n=2)) and congenital haemochromatosis (n=3). In all cases, the liver appeared normal on US.

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Genetic syndromes mimic congenital infections

Cited by 54 publications

References 16 publications

Astrocytes produce interferon‐alpha and CXCL10, but not IL‐6 or CXCL8, in aicardi‐Goutières syndrome

Astrocytes produce interferon‐alpha and CXCL10, but not IL‐6 or CXCL8, in aicardi‐Goutières syndrome

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

Fetal liver iron overload: the role of MR imaging

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