Case Report

A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2)

Table 2

Review of the literature.

First author and publication yearVivarelli 2001Vivarelli 2001Vivarelli 2001Vivarelli 2001Kulkarni 2010Ekinci 2020Briggs 2008Briggs 2008Knoblauch 2003Knoblauch 2003Abdel‐Salam 2008Abdel‐Salam 2008Patnaik 2017

SexFFFFMFMFMMFMM
Age3 y20 m2 y9 yNA11 m1 w1 dAntenatalAntenatal39 wDied at 8 d8 m
Birth weight (kg)2.42.23.22.12.52.53.723.392.31.8NA1.35NA
Mother age30 yNANANA26 yNANANANANA17NANA
Gestational age39 w39 wNA35 w36 w38 w38 w38 w37 w32 w39 w32 wNA
Mode of deliveryNVDNVDNVDNVDNVDNANVDCSCSCSNVDNVDNA
Pregnancy outcomesRecurrent threatened miscarriages after a weekFreeRepeated threatened miscarriages 2nd after 2 monthMeckel diverticulum perforation and jejunal atresiaAt 28 neonate had intracranial calcificationsFreeFreeSeizuresFreePreterm birthFreeFreeNA
Past medical history of the motherFreeFreeFreeFreeFreeNANANANANAFreeFreeNA
Family historyNANANAMultiple hand malformationsFreeNAFreePseudo-TORCH (brother)FreeFreeFreeFreeNA
Apgar score88897 at 1 min/9 at 5 minNA9 at 5 min9 at 1 min and 9 at 10 min9 at 10 min7 at 10 minNANAInsignificant
Consanguinity+++++++NA
Intracranial calcifications+++++++++++++
Microcephaly++++++NANA+++
Seizures++++++++++++
Congenital thrombocytopenia++NA++NANANA
Congenital hepatosplenomegalyNANANANANA++NA
Dysmorphic features+++++NA++++++NA

NA: nonavailable; NVD: normal vaginal delivery; CS: caesarian section.