Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct 'pseudo-TORCH' phenotype. Clin. (2003) Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. J. Hum. Monastiri K et al. Die Erkrankung beginn meist antenatal und führt im Kleinkindesalter zum Tode. Other features included seizures and spastic quadriparesis with hypotonia. (1983) reported 2 infant sibs born with congenital microcephaly who developed seizures, hypertonia, and spasticity. 51: 142-143, 1997. 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. See also PTORCH2 (617397), caused by mutation in the USP18 gene (607057) on chromosome 22q11, and PTORCH3 (618886), caused by mutation in the STAT2 gene (600556) on chromosome 12q13. We believe that using a supraglottic airway device to secure the airway is less invasive than intubation, and can be performed without the need of muscle relaxants. O'Driscoll et al. J. Med. Affected individuals have congenital microcephaly, intracranial calcifications, simplified gyration and polymicrogyria, and severe developmental delay (Reardon et al., … Cree encephalitis is allelic with Aicardi-Goutieres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. Springer, Berlin, Heidelberg. [Full Text], Monastiri, K., Salem, N., Korbi, S., Snoussi, N. [PubMed: 12624136] 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 … Knoblauch H et al. Clin. Calcification was also present in the cerebellum and brainstem. Ocular changes are not reported with pseudo-TORCH syndrome / AGS. [Full Text], Slee, J., Lam, G., Walpole, I. Affected individuals have congenital microcephaly, intracranial calcifications, simplified gyration and polymicrogyria, and severe developmental delay (Reardon et al., 1994; O'Driscoll et al., 2010). The majority of affected individuals experience significant intellectual and physical problems, although this is not always the case. Am. Gen OMIM: Locus: Exons Erbgang: OCLN: 602876: 5q13.2: 8 (8)* autosomal-rezessiv * … LeBlanc et al. [PubMed: 10827106, images, related citations] Slee J et al. Aicardi-Goutieres syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The rearrangement was a deletion within exon 9, which is expressed in all 7 of the known OCLN isoforms. 149A: 1565-1568, 2009. (2008) Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. Genet. [PubMed: 7977464] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(10)00368-X], Reardon, W., Hockey, A., Silberstein, P., Kendall, B., Farag, T. I., Swash, M., Stevenson, R., Baraitser, M. ORPHA: 1229;   (Table 1) 2.7. Other features included nystagmus and spasticity. (Letter) (1985), and Burn et al. [Full Text], Baraitser, M., Brett, E. M., Piesowicz, A. T. 146A: 2929-2936, 2008. [PubMed: 12624136, related citations] Genet. Genet. Some patients had a slightly hypoplastic cerebellum. 30: 112-116, 1986. Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. Schauen Sie sich jetzt die ganze Liste der weiteren möglichen Ursachen und Krankheiten an! LeBlanc et al. Genet. Postmortem examination showed enlarged ventricles, lissencephaly, polymicrogyria, and severely disorganized cortex. 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). 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. Both died in infancy. Verwenden Sie den Chatbot, um Ihre Suche weiter zu verfeinern. of the OMIM's operating expenses go to salary support for MD and PhD Genet. [PubMed: 18925673, related citations] Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. (Letter) Although the same group (Crow et al. [PubMed: 10340646, related citations] Over 90% The parents were first cousins in 1 family. (1986) commented that the disorder in these sibs was distinct from Aicardi-Goutieres syndrome. Genet. 1. Das Pseudo-TORCH-Syndrom 2 ist eine schwere autoinflammatorische Erkrankung, die durch autosomal rezessive Mutationen im USP18-Gen hervorgerufen wird. Two siblings with microcephaly associated with calcification of cerebral white matter. There was massive calcification throughout the brain. Burn et al. 132: 1223-1234, 2013. (2010) described 10 affected individuals from 6 families with BLCPMG. Am. Am. Abdel-Salam, G. M. H., Zaki, M. S., Saleem, S. N., Gaber, K. R. (2000, 2003) called attention to the phenotypic overlap of pseudo-TORCH syndrome and Aicardi-Goutieres syndrome (AGS; 225750), and even suggested that some cases may represent the same disorder. J. Med. Am. Revesz syndrome (MIM: 268130), also known as cerebroretinal microangiopathy with calcifications and cysts … The parents were not related. (2013) noted that extracranial phenotypes, particularly the severe renal impairment seen in their patients, have not consistently been reported in this disorder. Die Erkrankung beginn meist antenatal und führt im Kleinkindesalter zum Tode. [PubMed: 20727516, images, related citations] Facial features included sloping forehead, bitemporal grooving, nystagmus, prominent anteverted nostrils, long philtrum, high-arched palate, and microretrognathia. Hum. Microarray analysis identified homozygous deletions of copy number probes within exons 3 and 4 in affected individuals from 2 unrelated but consanguineous families from Egypt and Turkey, respectively. Genet. Donations are an important 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. 2013 Sep;30(3):321-2. doi: 10.5152/balkanmedj.2013.6960. [PubMed: 20727516] O'Driscoll MC et al. 67: 213-221, 2000. Am J … Both infants died at ages 30 and 50 days, respectively. (1997) Microcephaly and intracranial calcification: two new cases. Am. Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome Balkan Med J. 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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. (1997) reported 2 sibs, born of consanguineous parents, with congenital microcephaly, profound growth retardation, and periventricular calcifications. In addition, the 2 Turkish sibs had possible evidence of early postnatal cytomegalovirus infection. Slee et al. 146A: 2929-2936, 2008. 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. In: Baert A.L. information that you need at your fingertips. With microcephaly, jaundice, hepatomegaly, and corneal clouding 2017 ) Extensive calcification... 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