**Pseudo Toxoplasmosis**

Yoshiaki Shimada

172 Toxoplasmosis – Recent Advances

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Additional information is available at the end of the chapter

http://dx.doi.org/10.5772/50708

### **1. Introduction**

Signs that may be included in the clinical presentation of congenital toxoplasmosis may be observed in infants without identification of *Toxoplasma gondii* or other intrauterine infection. When congenital toxoplasmosis is excluded, these case are diagnosed as having pseudo toxoplasmosis (Hervouet, 1961), pseudo-TORCH (*toxoplasma*, rubella, cytomegalovirus, and herpes simplex) syndrome (Baraitser et al., 1983; 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) or congenital infection-like syndrome (Abdel-Salam & Zaki, 2009; al-Dabbous et al., 1998; al-Gazali et al., 1999; Dale et al., 2000; Knoblauch et al., 2003; Kulkarni et al., 2010; Mishra et al., 2002; Mizuno et al., 2011; Slee et al.,1999).

These signs include microcephaly (Aalfs et al., 1995; Abdel-Salam & Zaki, 2009; Abdel-Salam 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; Eventov-Friedman 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; Sadler & Robinson, 1993; Simonell et al., 2002; Slee et al., 1999; Strauss et al., 2005; Tenconi et al., 1981; Trzupek et al., 2007; van den Bosch, 1959; van Genderen et al., 1997; Vasudevan et al., 2005; Vivarelli et al., 2001; Warburg & Heuer, 1994; Wieczorek et al., 1995), intracranial calcifications (Abdel-Salam & Zaki, 2009; Aicardi & Goutières, 1984; al-Dabbous et al., 1998; al-Gazali et al., 1999; Asai et al., 2012; Baraitser et al., 1983; Bogdan, 1951; Briggs et al., 2008; Burn et al., 1986; Cohen et al., 2012; Dale et al., 2000;

© 2012 Shimada, licensee InTech. This is an open access chapter distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. © 2012 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons Attribution License http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Hervouet, 1961; Ishitsu et al., 1985; Knoblauch et al., 2003; Kulkarni et al., 2010; Mishra et al., 2002; Mizuno et al., 2011; Nakamura et al., 2011; Reardon et al., 1994; Revesz et al., 1992; Slee et al., 1999; Vivarelli et al., 2001; Watts et al., 2008; Wieczorek et al., 1995) and retinal changes (Abdel-Salam et al., 1999; Abdel-Salam et al., 2000; Ahmadi & Bradfield, 2007; Alzial et al., 1980; Angle et al., 1994; Asai et al., 2012; Atchaneeyasakul et al., 1998; Bogdan, 1951; Burn et al., 1986; Cantú et al., 1977; Casteels et al., 2001; Eventov-Friedman et al., 2009; Feingold & Bartoshesky 1992; Fryns et al., 1995; Hervouet, 1961; Hordijk et al., 1996; King et al., 1998; Limwongse et al., 1999; McKusick et al., 1966; Revesz et al., 1992; Sadler & Robinson, 1993; Simonell et al., 2002; Strauss et al., 2005; Tenconi et al., 1981; Trzupek et al., 2007; van Genderen et al., 1997; Vasudevan et al., 2005; Warburg & Heuer, 1994; Watts et al., 2008).

Pseudo Toxoplasmosis 175

al., 1979). Mutations in the CDKL5 gene on chromosome Xp22 have been found in these

Although the Aicardi syndrome normally has a poor prognosis, there is a heterogeneity of clinical severity. A mild case of a chorioretinal defect and a hypoplastic disc has been reported (King et al., 1998). The case was misdiagnosed as having cerebral and retinal

The presence of corpus dysgenesis supports the diagnosis of Aicardi syndrome. In addition, the Aicardi syndrome does not cause intracranial calcifications which are likely to be present in cases of congenital toxoplasmosis (Table 1). Ocular abnormality is various,

**Table 1.** Clinical findings of the patients affected by congnetial toxoplasmosis and the pseudo

however, chorioretinal lacunae are thought to be pathognomonic.

patients (Nemos et al., 2009).

*2.1.4. Differential diagnosis* 

toxoplasmosis.

toxoplasmosis

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.

To diagnose the clinical entities described below, evidence of congenital infection including toxoplasmosis is the most important exclusion criterion. Misdiagnosis would result in erroneous counseling as to risk of recurrence (Aicardi et al., 2012).
