IllnessMicrocephaly + pseudo TORCH, differential diagnosis

NGS +

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 revealing the absence of any known infectious agent

• Alias: Bilateral band-like calcification with polymicrogyria
• Alias: Bilaterale band-ähnliche Kalzifizierung mit Polymikrogyrie
• Alias: Microcephaly in combination with intracranial calcification
• Allelic: Chilblain lupus (TREX1)
• Allelic: Chilblain lupus 2 (SAMHD1)
• Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
• Allelic: Singleton-Merten syndrome 1 (IFIH1)
• Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
• Allelic: Vasculopathy, retinal, with cerebral leukodystrophy (TREX1)
• Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
• Aicardi-Goutieres syndrome 2 (RNASEH2B)
• Aicardi-Goutieres syndrome 3 (RNASEH2C)
• Aicardi-Goutieres syndrome 4 (RNASEH2A)
• Aicardi-Goutieres syndrome 5 (SAMHD1)
• Aicardi-Goutieres syndrome 6 (ADAR)
• Aicardi-Goutieres syndrome 7 (IFIH1)
• Congenital intrauterine infection-like syndrome
• Microcephaly-intracranial calcification-intellectual disability syndrome
• Pseudo-TORCH (no TOxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex infection) syndrome
• Pseudo-TORCH syndrome 1 (OCLN)
• Pseudo-TORCH syndrome 2 (USP18)
• Pseudo-TORCH syndrome 3 (STAT2)