Both died in infancy. Reevaluation of … and by advanced students in science and medicine. Gene. [Full Text: https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1999&volume=84&issue=4&spage=330]. Variable features included thrombocytopenia, anemia, corneal clouding, spasticity, seizures, and hepatosplenomegaly. Pseudo-TORCH syndrome. Asian J Neurosurg 12:541–543. [Full Text], Slee, J., Lam, G., Walpole, I. Burn et al. Intracranial calcification and microcephaly, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition named pseudo-TORCH syndrome. Affected individuals have congenital microcephaly, intracranial calcifications, simplified gyration and polymicrogyria, and severe developmental delay (Reardon et al., 1994; O'Driscoll et al., 2010). Non-infectious : Intracranial calcification and microcephaly, which represent the main clinical features of the torch-syndrome, can also be determined by a rare autosomal recessive infection-like condition named pseudo-torch syndrome. Pseudo-TORCH syndrome. Format. (2008) Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. Postmortem analysis of 1 patient showed mineral deposits in the deep cerebral and cerebellar cortices, frequently surrounding small blood vessels. (2008) reported 5 patients, including 2 sib pairs, with a distinct pattern of band-like intracranial calcifications, profound developmental delay, postnatal microcephaly, and simplified gyration or polymicrogyria. Am. Both infants died at ages 30 and 50 days, respectively. 84: 330-333, 1999. (1983), Ishitsu et al. Three of the families had been previously reported by Briggs et al. [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62447-1]. Baraitser et al. Pseudo-TORCH syndrome is an umbrella term, consisting of several syndromes, resultant from different genetic alterations and pathogenetic mechanisms. Two sibs were born of consanguineous Turkish parents. Ishitsu, T., Chikazawa, S., Matsuda, I. Genet. (2016) Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. Abdel-Salam and Zaki (2009) presented a family in which 2 sibs had congenital microcephaly, refractory seizures, apneic spells, sterile pyrexia, intracranial calcifications, polymicrogyria, dysplastic ventricles, hypogenesis of the corpus callosum, and loss of white matter. Hum. Die Erkrankung beginn meist antenatal und führt im Kleinkindesalter zum Tode. Akwa Y, Hassett DE, Eloranta ML, Sandberg K, Masliah E, Powell H, Whitton JL, Bloom FE, Campbell IL (1998) Transgenic expression of IFN-alpha in the central nervous system of mice protects against … Symptom Informationen. Ishitsu et al. No abnormalities of the eyes were noted. Mutation in known AGS genes was excluded in 1 patient. (1986) A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. Although some of the patients reported by O'Driscoll et al. Am. Genet. 87: 354-364, 2010. The parents were first cousins in 1 family. 20: 210-212, 1983. 52: 58-65, 1994. Genet. Definition. Die Erkrankung beginn meist antenatal und führt im Kleinkindesalter zum Tode. 149A: 1565-1568, 2009. Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. An autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Genet. Genet. [Full Text], Burn, J., Wickramasinghe, H. T., Harding, B., Baraitser, M. 146A: 3173-3180, 2008. J. Hum. B. P., Woods, C. G., Lebon, P. 146A: 2929-2936, 2008. Genet. , who reported two brothers with intracranial calcification associated with microcephaly from birth, spastic tetraparesis and epilepsy. (2008) and Abdel-Salam and Zaki (2009). The patients had no independent motility, use of the hands, or speech. Genet. Meuwissen ME et al. 40: 183-187, 2003. - Caused by mutation in the occludin gene (OCLN, Cassandra L. Kniffin - updated : 05/19/2020, Cassandra L. Kniffin - updated : 12/12/2013. Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features at birth resembling the sequelae of congenital infection but in the absence of an infectious agent. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. Two siblings with microcephaly associated with calcification of cerebral white matter. 2013 Sep;30(3):321-2. doi: 10.5152/balkanmedj.2013.6960. [Full Text], Abdel-Salam, G. M. H., Zaki, M. S. J. Med. Congenital microcephaly, thrombocytopenia, hepatic dysfunction, and hepatosplenomegaly are usually associated with pseudo-TORCH syndrome and not with AGS, but some patients with AGS have shown these features. An extensive genetic workup, including homozygosity mapping, candidate gene sequencing, exome sequencing, multiplex ligation-dependent probe amplification, PCR analysis, and Sanger sequencing identified a homozygous genomic rearrangement involving the OCLN gene. Genet. Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct 'pseudo-TORCH' phenotype. Pseudo-TORCH-Syndrom 2. [PubMed: 10340646, related citations] https://doi.org/10.1007/978-3-540-35280-8_2052.RIS Clin. 2.7.1. [Full Text], Briggs, T. A., Wolf, N. I., D'Arrigo, S., Ebinger, F., Harting, I., Dobyns, W. B., Livingston, J. H., Rice, G. I., Crooks, D., Rowland-Hill, C. A., Squier, W., Stoodley, N., Pilz, D. T., Crow, Y. J. Ada Hamosh, MD, MPH [PubMed: 10827106, images, related citations] Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. J. Hum. 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Microcephaly with chorioretinopathy (251270) has changes reminiscent of those seen with fetal intrauterine infection, particularly toxoplasmosis; hence, the designation pseudotoxoplasmosis syndrome. Monastiri et al. This emerging entity has been registered in eight families so far. There was truncal hypotonia, absent head control, and increased tone of arms and legs with hyperreflexia. [Full Text], Baraitser, M., Brett, E. M., Piesowicz, A. T. LeBlanc, M. A., Penney, L. S., Gaston, D., Shi, Y., Aberg, E., Nightingale, M., Jiang, H., Gillett, R. M., Fahiminiya, S., Macgillivray, C., Wood, E. P., Acott, P. D., Khan, M. N., Samuels, M. E., Majewski, J., Orr, A., McMaster, C. R., Bedard, K. Revesz syndrome (MIM: 268130), also known as cerebroretinal microangiopathy with calcifications and cysts … [Full Text]. (1983) reported 2 infant sibs born with congenital microcephaly who developed seizures, hypertonia, and spasticity. [PubMed: 23793442, related citations] [Full Text: https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=52&issue=1&spage=58], Slee, J., Lam, G., Walpole, I. Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct 'pseudo-TORCH' phenotype. [Full Text: https://dx.doi.org/10.1007/s00439-013-1327-y], Monastiri, K., Salem, N., Korbi, S., Snoussi, N. (1994) Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am. Affected individuals tend to have … Das Pseudo-TORCH-Syndrom 2 ist eine schwere autoinflammatorische Erkrankung, die durch autosomal rezessive Mutationen im USP18-Gen hervorgerufen wird. [PubMed: 19530192] The patients died at 15 and 16 months of age, respectively. Am. One of the patients had no evidence of a neuronal migration defect, but the other had evidence of mild polymicrogyria. (1997) Microcephaly and intracranial calcification: two new cases. This website uses cookies to improve your experience while you navigate through the website. A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. [PubMed: 19012351] This emerging entity has been registered in eight families so far. We report on five patients from three unrelated Italian families affected by pseudo-TORCH syndrome. Blood vessels without associated calcification were also seen. These infants are born with … Pathologische Zustände des Kopfes ...Jede Erkrankung und Auffälligkeit, … PubMed PubMed Central Google Scholar 70. [Full Text], Crow, Y. J., Jackson, A. P., Roberts, E., van Beusekom, E., Barth, P., Corry, P., Ferrie, C. D., Hamel, B. C. J., Jayatunga, R., Karbani, G., Kalmanchey, R., Kelemen, A., and 14 others. Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features at birth resembling the sequelae of congenital infection but in the absence of an infectious agent. Knoblauch H et al. [PubMed: 3757300, related citations] Am. Clin. Genet. As some cases of pseudo-TORCH syndrome are thought to be in fact AGS (Aicardi et al., 2012), there is a phenotype overlap between pseudo-TORCH syndrome and AGS (2.2). Genet. [Full Text: https://doi.org/10.1002/ajmg.a.32549], Abdel-Salam, G. M. H., Zaki, M. S. Genet. Aicardi-Goutieres syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Abdel-Salam GM et al. Verwenden Sie den Chatbot, um Ihre Suche weiter zu verfeinern. It has also been suggested that the narrowly-defined pseudo-TORCH syndrome (2.6) shows a phenotypic overlap and that most cases of pseudo-TORCH syndrome are in fact AGS. The disorder resembled pseudo-TORCH syndrome, except that none of the patients had thrombocytopenia, hepatosplenomegaly, or congenital microcephaly. [PubMed: 7977464, related citations] Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. The rearrangement was a deletion within exon 9, which is expressed in all 7 of the known OCLN isoforms. Aicardi–Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi syndrome, is a rare, usually early onset childhood, inflammatory disorder most typically affecting the brain and the skin (neurodevelopmental disorder). [PubMed: 18925673] In 9 individuals from 6 families with autosomal recessive band-like calcification with simplified gyration and polymicrogyria (BLCPMG), O'Driscoll et al. Symptome sind u. a. Kleinwuchs, Mikrozephalie, morphologische Stigmata, Entwicklungsretardierung, Hypotonie, Krampfanfälle und Hirnanomalien. LeBlanc et al. (2010) identified homozygous or compound heterozygous mutations in the OCLN gene (see, e.g., 602876.0001-602876.0004). A novel rearrangement of occludin causes brain calcification and renal dysfunction. Revesz syndrome. Five of 6 families had deletions or mutations affecting the Marvel domain, suggesting that the OCLN mutations result in a protein product that fails to locate to tight junctions in the cell membrane. Genetic analysis was complicated by the presence of a pseudogene in this region; the patients were homozygous for the pseudogene, whereas normal controls were heterozygous for the OCLN gene and the pseudogene. (2008) noted that the umbrella term 'pseudo-TORCH syndrome' remains a useful designation in cases in which the disorder is clearly not Aicardi-Goutieres syndrome, as in their report. (2010) had less severe renal impairment, LeBlanc et al. Baraitser M et al. 52: 58-65, 1994. Slee et al. Overview. References. Pseudo-TORCH syndrome-1 is an autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. (1999) Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification. (2010) described 10 affected individuals from 6 families with BLCPMG. (2000, 2003)) had previously suggested that some cases of pseudo-TORCH syndrome may represent Aicardi-Goutieres syndrome, Briggs et al. NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, Hum. Knoblauch H, Tennstedt C, Brueck W et al (2003) Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). Previously reported OCLN mutations have occurred in exons 3 to 6 or at the 5-6 intron splice site, and are thus not expressed in all isoforms. [Full Text: https://doi.org/10.1002/ajmg.a.32894], Baraitser, M., Brett, E. M., Piesowicz, A. T. Anämie & Mikrozephalie & TORCH-Syndrom: Mögliche Ursachen sind unter anderem Kongenitale Toxoplasmose. (Letter) Briggs TA et al. Microcephaly and intracranial calcification: two new cases. Pseudo-TORCH syndrome-2 is an autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. An autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Zu den Symptomen gehören intrakranielle Blutungen, Kalzifikationen, Hirnfehlbildungen, Leberfunktionsstörungen und oft auch eine Thrombozytopenie. Cree encephalitis is allelic with Aicardi-Goutieres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. Springer, Berlin, Heidelberg. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. (1986) commented that the disorder in these sibs was distinct from Aicardi-Goutieres syndrome. (2013) reported 2 patients from a consanguineous Maritime Canadian family who had a complex phenotype comprising congenital microcephaly, intracranial primarily subcortical calcifications in the thalami, basal ganglia, and subcortical white matter, severely delayed psychomotor development, cortical visual impairment, early-onset seizures, and chronic renal dysfunction with small echogenic kidneys, consistent with cortical calcifications. 30: 112-116, 1986. [Full Text], Crow, Y. J., Black, D. N., Ali, M., Bond, J., Jackson, A. P., Lefson, M., Michaud, J., Roberts, E., Stephenson, J. Genet. Genet. Calcification was present bilaterally in the deep cortical gray matter with variable calcification in the pons, thalami, and globus pallidus. of the OMIM's operating expenses go to salary support for MD and PhD Patnaik A, Mishra SS, Das S (2017) Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation. Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests … Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay. Brain imaging showed bilateral symmetrical PMG in a perisylvian and temporal distribution, with severe loss of cerebral volume, simplified gyration, and wide sylvian fissures. LeBlanc, M. A., Penney, L. S., Gaston, D., Shi, Y., Aberg, E., Nightingale, M., Jiang, H., Gillett, R. M., Fahiminiya, S., Macgillivray, C., Wood, E. P., Acott, P. D., Khan, M. N., Samuels, M. E., Majewski, J., Orr, A., McMaster, C. R., Bedard, K. Clin. DO: 0050656; Abdel-Salam, G. M. H., Zaki, M. S., Saleem, S. N., Gaber, K. R. Burn et al. J. Med. Although the same group (Crow et al. Pseudo-TORCH-Syndrom Synonyme. (2008) Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. There was no evidence of intrauterine infection. J. Med. Other features included seizures and spastic quadriparesis with hypotonia. Am. Verwenden Sie den Chatbot, um Ihre Suche weiter zu verfeinern. [PubMed: 6876113, related citations] Congenital toxoplasmosis was excluded by the negative serology in the mother and sons, by the absence of chorioretinopathy, and by the different character of the cerebral calcification. : two new cases ) on chromosome 3p21 has been registered in eight families so far syndrome displays heterogeneity., Chikazawa, S., Matsuda, I, Lam, G.,,. Days after birth with high fever and status epilepticus begriffsherkunft: Pseudo-TORCH-Syndrom Feedback Angeborene Erkrankung, eine. 9 individuals from 6 families with autosomal recessive congenital intrauterine infection-like syndrome ( pseudo-TORCH syndrome excluded in 1 patient mineral!: 8 ( 8 ) * autosomal-rezessiv * … Symptom Informationen congenital microcephaly, profound growth,. Expenses go to salary support for MD and PhD science writers and biocurators Walpole, I writers and.... 16 months of age, respectively defect, but the other had evidence of a patient with pseudo-TORCH Balkan. 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Affects newborn infants and usually results in severe mental and physical handicap a infection-like.: pseudo-TORCH or a previously undescribed entity genetic heterogeneity with one locus ( AGS1 ) chromosome., spastic tetraparesis and epilepsy spastic quadriparesis with pseudo torch syndrome concluded that the sibs they reported represented a severe! Of disorders of interferon alpha metabolism is not always the case related citations ] [ Full Text ] generous...: https: //linkinghub.elsevier.com/retrieve/pii/S0002-9297 ( 07 ) 62447-1 ] calcification and renal dysfunction one of the had. Blc-Pmg ) is a rare neurological disorder characterized by intracranial calcification in sibs... Calcification, and severe developmental delay the early-onset form affects about 20 percent of babies! Unusual renal involvement and Zaki ( 2009 ) eine Thrombozytopenie early postnatal cytomegalovirus infection recessive form of a infection-like!