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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Genetic conditions associated with microcephaly and neuroradiologic abnormalities mimicking vascular damage or prenatal infection

Genetic conditions associated with microcephaly and neuroradiologic abnormalities mimicking vascular damage or prenatal infection
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.
References:
  1. Stephenson JB. Aicardi-Goutierès syndrome (AGS). Eur J Paediatr Neurol 2008; 12:355.
  2. Briggs TA, Wolf NI, D'Arrigo S, et al. Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype. Am J Med Genet A 2008; 146A:3173.
  3. Hobson EE, Thomas S, Crofton PM, et al. Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy. Eur J Pediatr 2005; 164:655.
  4. Hoffmann C, Ben-Zeev B, Anikster Y, et al. Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency. J Child Neurol 2007; 22:1214.
  5. van Straaten HL, van Tintelen JP, Trijbels JM, et al. Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption. Neuropediatrics 2005; 36:193.
  6. Samson JF, Barth PG, de Vries JI, et al. Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications. Eur J Pediatr 1994; 153:510.
  7. Longman C, Tolmie J, McWilliam R, MacLennan A. Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome. Clin Dysmorphol 2003; 12:133.
  8. Schram A, Kroes HY, Sollie K, et al. Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships. Am J Med Genet A 2004; 127A:172.
  9. Behunova J, Zavadilikova E, Bozoglu TM, et al. Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: A relationship with hereditary fetal brain degeneration and fetal brain disruption sequence. Clin Dysmorphol 2010; 19:107.
  10. Henneke M, Diekmann S, Ohlenbusch A, et al. RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet 2009; 41:773.
  11. Bonnemann CG, Meinecke P. Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity. Am J Med Genet 1996; 63:428.
  12. Paciorkowksi AR, Keppler-Noreuil K, Robinson L, et al. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. Am J Med Genet A 2013; 161A:1523.
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