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

Abstract

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.

Zika Virus–Associated Micrencephaly: A Thorough Description of Neuropathologic Findings in the Fetal Central Nervous System

“…23,24 Importantly, our neuropathologic evaluation demonstrated that the Zika virus-infected fetal brain shares most of the neuroimaging changes seen in other intrauterine TORCH infections and even in pseudo-TORCH phenotypes. 6,7,8,25,26 It is difficult to make a comparison with the neuropathology of such cases because relatively few autopsies with brain examinations have been performed, 27 not only in cases of Zika virus-associated microcephaly but also in other intrauterine fetal brain infections. 28,29 Some changes, especially those of a malformed cortex, have frequently been described as polymicrogyria on MRI, which should be interpreted with caution.…”

“…6 Some cases with fetal, intracranial, bandlike calcifications, similar to those produced by TORCH agents but without confirmed intrauterine viral infection, have been described under the term pseudo-TORCH. 7,8 The most-frequent microorganisms affecting the fetal brain and causing microcephaly, usually accompanied by calcifications, are cytomegalovirus and Toxoplasma gondii. 6 An outbreak of microcephaly in Brazil, causally associated with the Zika virus epidemic since May 2015, has resulted in this emerging viral infection becoming the leading causative agent of microcephaly in South and Central America 9,10 and a serious threat to pregnant women from other countries who have visited that region.…”

Pseudo Toxoplasmosis

“…Narrowly-defined pseudo-TORCH syndrome (al-Dabbous et al, 1998;Baraitser et al, 1983;Briggs et al, 2008;Burn et al, 1986;Cohen et al, 2012;Ishitsu et al, 1985;Knoblauch et al, 2003;Kulkarni et al, 2010;Nakamura et al, 2011;Reardon et al, 1994;Vivarelli et al, 2001;Watts et al, 2008;Wieczorek et al 1995), also called Baraitser-Reardon syndrome (Vivarelli et al, 2001), or band-like calcification with simplified gyration and polymicrogyria (BLCPMG; MIM: 251290) (Abdel-Salam & Zaki, 2009;Briggs et al, 2008;O'Driscoll et al, 2010), is associated with microcephaly and intracranial calcifications mimicking congenital toxoplasmosis in the absence of infection. Ocular changes are not reported with pseudo-TORCH syndrome / AGS.…”

“…These signs include microcephaly (Aalfs et al, 1995;Abdel-Salam & Zaki, 2009;AbdelSalam et al, 1999;Abdel-Salam et al, 2000;Ahmadi & Bradfield, 2007;Aicardi & Goutières, 1984;al-Dabbous et al, 1998;al-Gazali et al, 1999;Alzial et al, 1980;Angle et al, 1994;Atchaneeyasakul et al, 1998;Baraitser et al, 1983;Bogdan, 1951;Book et al, 1953;Briggs et al, 2008;Burn et al, 1986;Cantú et al, 1977;Casteels et al, 2001;Dale et al, 2000;EventovFriedman et al, 2009;Feingold & Bartoshesky 1992;Fisch et al, 1973;Fryns et al, 1995;Hoyeraal et al, 1970;Hordijk et al, 1996;Hreidarsson et al, 1988;Ishitsu et al, 1985;Jarmas et al, 1981;Kloepfer et al, 1964;Knoblauch et al, 2003;Komai et al, 1955;Kozma et al, 1996;Kulkarni et al, 2010;Leung, 1985;Limwongse et al, 1999;McKusick et al, 1966;Mishra et al, 2002;Nakamura et al, 2011;Nemos et al, 2009;Ostergaard et al, 2012;Pearson et al, 2008;Reardon et al, 1994;…”

“…The majority of the cases have a family history (Abdel-Salam & Zaki, 2009;Aicardi & Goutières, 1984;al-Dabbous et al, 1998;al-Gazali et al, 1999;Alzial et al, 1980;Atchaneeyasakul et al, 1998;Baraitser et al, 1983;Bogdan, 1951;Book et al, 1953;Briggs et al, 2008;Burn et al, 1986;Cantú et al, 1977;Cohen et al, 2012;Dale et al, 2000;Fisch et al, 1973;Hordijk et al, 1996;Ishitsu et al, 1985;Jarmas et al, 1981;Knoblauch et al, 2003;Kozma et al, 1996;Leung, 1985;Limwongse et al, 1999;McKusick et al, 1966;Reardon et al, 1994;Sadler & Robinson, 1993;Simonell et al, 2002;Slee et al, 1999;Trzupek et al, 2007;van Genderen et al, 1997;Vivarelli et al, 2001;Warburg & Heuer, 1994), and thus a genetic basis has been proposed.…”