Genetic condition | Phenocopy* |
Aicardi-Goutierès syndrome (also known as pseudo-TORCH and allelic with Cree encephalitis [at least 5 genes, common]) | Congenital infection with thrombocytopenia, increased production of alpha-interferon, ulcerative skin lesions |
Pseudo-TORCH syndrome type b | Distinct pattern of band-like intracranial calcification, simplified gyration and polymicrogyria; severe postnatal microcephaly, seizures, developmental arrest |
Sulfite oxidase deficiency | Neonatal encephalopathy; neuroradiology and pathology can mimic perinatal asphyxia |
Mitochondrial/respiratory chain abnormality | Disrupted brain development with congenital infection-like calcifications, and a complex neuronal migration disorder |
PEHO-like syndrome | Encephalopathy with hypoxic ischemic changes on MRI |
Fetal brain disruption sequence | Traumatic brain destruction |
Cystic leukoencephalopathy | Congenital CMV clinically and neuroradiologically |
Bilateral porencephaly; cerebellar or vermis hypoplasia or aplasia; congenital heart defect | Bilateral porencephaly ("basket brain") may resemble middle cerebral artery infarct |
16p13.11 unmasking NDE1 recessive mutation | Fetal brain disruption - severe microcephaly, callosal agenesis, cortical dysplasia, cysts |
TORCH: toxoplasmosis, other (syphilis, varicella, etc), rubella, cytomegalovirus, herpes simplex virus; PEHO: progressive encephalopathy with edema, hypsarhythmia, and optic atrophy; MRI: magnetic resonance imaging; CMV: cytomegalovirus.
* Phenocopy: a nongenetic condition with an appearance that is similar to that caused by a specific genotype.Do you want to add Medilib to your home screen?