OBJECTIVES: Aicardi-Goutières syndrome is an autosomal recessive neurodegenerative disorder inducing cerebral atrophy, intracerebral calcification and developmental arrest. Diagnosis requires the presence of progressive encephalopathy with clinical onset shortly after birth, typical neuroimaging features associated with a raised blood and cerebrospinal fluid interferon-alpha level.A case of prenatal diagnosis of Aicardi-Goutières syndrome is reported. METHODS: An MRI performed at 26 gestational weeks showed bilateral calcifications and white matter abnormalities, cerebral anomalies typically described in this disease. The fetal blood analysis revealed an increase in interferon-alpha. RESULTS: Therefore, the prenatal diagnosis of Aicardi-Goutières syndrome in this fetus was based on the following facts: the familial background with the affected first child and consanguineous parents, a normal pregnancy and normal fetal growth, cerebral anomalies diagnosed on prenatal ultrasound and cerebral MRI, raised interferon-alpha in the fetal serum and no evidence of any infectious etiology. The autopsy performed postdelivery at 28 1/2 weeks' gestation confirmed the diagnosis of Aicardi-Goutières syndrome. CONCLUSION: To the best of our knowledge, this is the first prenatal diagnosis of this syndrome. Such a diagnosis may prove useful for families at risk as long as genetic screening is not available. Copyright (c) 2005 John Wiley & Sons, Ltd.
OBJECTIVES: Aicardi-Goutières syndrome is an autosomal recessive neurodegenerative disorder inducing cerebral atrophy, intracerebral calcification and developmental arrest. Diagnosis requires the presence of progressive encephalopathy with clinical onset shortly after birth, typical neuroimaging features associated with a raised blood and cerebrospinal fluid interferon-alpha level.A case of prenatal diagnosis of Aicardi-Goutières syndrome is reported. METHODS: An MRI performed at 26 gestational weeks showed bilateral calcifications and white matter abnormalities, cerebral anomalies typically described in this disease. The fetal blood analysis revealed an increase in interferon-alpha. RESULTS: Therefore, the prenatal diagnosis of Aicardi-Goutières syndrome in this fetus was based on the following facts: the familial background with the affected first child and consanguineous parents, a normal pregnancy and normal fetal growth, cerebral anomalies diagnosed on prenatal ultrasound and cerebral MRI, raised interferon-alpha in the fetal serum and no evidence of any infectious etiology. The autopsy performed postdelivery at 28 1/2 weeks' gestation confirmed the diagnosis of Aicardi-Goutières syndrome. CONCLUSION: To the best of our knowledge, this is the first prenatal diagnosis of this syndrome. Such a diagnosis may prove useful for families at risk as long as genetic screening is not available. Copyright (c) 2005 John Wiley & Sons, Ltd.
Authors: Thais Armangue; Joseph J Orsini; Asako Takanohashi; Francesco Gavazzi; Alex Conant; Nicole Ulrick; Mark A Morrissey; Norah Nahhas; Guy Helman; Heather Gordish-Dressman; Simona Orcesi; Davide Tonduti; Chloe Stutterd; Keith van Haren; Camilo Toro; Alejandro D Iglesias; Marjo S van der Knaap; Raphaela Goldbach Mansky; Anne B Moser; Richard O Jones; Adeline Vanderver Journal: Mol Genet Metab Date: 2017-07-20 Impact factor: 4.797
Authors: M Ali; L J Highet; D Lacombe; C Goizet; M D King; U Tacke; M S van der Knaap; L Lagae; C Rittey; H G Brunner; H van Bokhoven; B Hamel; Y A Oade; A Sanchis; I Desguerre; D Cau; N Mathieu; M L Moutard; P Lebon; D Kumar; A P Jackson; Y J Crow Journal: J Med Genet Date: 2005-05-20 Impact factor: 6.318
Authors: Luis Rafael Moscote-Salazar; Willem Guillermo Calderon-Miranda; Ray Vicente Deluquez Baute; Amit Agrawal; Guru Dutta Satyarthee; Johana Maraby-Salgado; Huber Said Padilla-Zambrano; Daniela Lopez-Cepeda; Alfonso Pacheco-Hernandez; Andrei F Joaquim Journal: J Pediatr Neurosci Date: 2018 Jan-Mar