Prenatal diagnosis of lissencephaly: A case report

  title={Prenatal diagnosis of lissencephaly: A case report},
  author={Halil Aslan and Kemal Gungorduk and Doğukan Yıldırım and Oğuz Aslan and Gokhan Yildirim and Yavuz Ceylan},
  journal={Journal of Clinical Ultrasound},
We describe the abnormal sonographic findings in the brain of a 26‐week fetus, which increased the suspicion of isolated lissencephaly. Follow‐up ultrasound examination and MRI depicted diffuse cortical agyria, microcephaly, hypotelorism, and proptosis. Cordocentesis showed a normal 46,XY karyotype, and no short arm deletion of chromosome 17 was detectable. Postmortem examination confirmed complete agyria of the whole fetal brain. Early detection of fetal microcephaly and other cranial… Expand
Prenatal Diagnosis of Isolated Lissencephaly by Ultrasonography and Magnetic Resonance Imaging: A Case Report
The abnormal sonographic findings in the brain of a 26-week fetus of a woman with a history of prednisolone use in early pregnancy, which increased the suspicion of isolated lissencephaly, were presented. Expand
Re: Prenatal diagnosis of lissencephaly: A case report
In this case, findings were subtle on MR performed at 24 weeks, but were well seen on repeat MR done at 34 weeks, which revealed abnormal flat insula, smooth brain parenchyma suggestive of lack of sulcation (Figure 1). Expand
Prenatal Sonographic Features of Miller-Dieker Syndrome
An overview of the reported prenatal sonographic features ofMiller-Dieker syndrome is provided, including CNS anomalies, intrauterine growth restriction, polyhydramnios, cardiac anomalies, omphalocele, facial anomalies, and rare anomalies. Expand
Prenatal diagnosis of monosomy 17p (17p13.3-->pter) associated with polyhydramnios, intrauterine growth restriction, ventriculomegaly, and Miller-Dieker lissencephaly syndrome in a fetus.
Polyhydramnios, IUGR and ventriculomegaly are important prenatal ultrasound markers of MDLS and prenatal diagnosis of these markers should include a detailed investigation of cerebral sulci and fissures, and genetic analysis for MDLS. Expand
Lissencephaly, is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). In the usualExpand


Antenatal diagnosis of isolated lissencephaly by ultrasound and magnetic resonance imaging
  • P. Greco, M. Resta, +4 authors L. Selvaggi
  • Medicine
  • Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
  • 1998
It is believed that ultrasound and targeted MRI examination can improve the understanding of some disorders of neuronal migration and that earlier diagnosis is feasible if both methods are employed and interpreted by sound criteria. Expand
Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development.
Familiarity with the normal ultrasonographic (US) and magnetic resonance resonance (MR) imaging appearances of the fetal cerebral cortex at various stages of gestation is essential for the early detection of abnormal sulcal development. Expand
Prenatal diagnosis of lissencephaly by magnetic resonance image.
Two cases of lissencephaly were prenatally diagnosed by a magnetic resonance image (MRI) because smooth surface of brain and remarkable sylvian fissure were easily observed in MRI. Expand
Prenatal ultrasound findings of lissencephaly associated with Miller–Dieker syndrome and comparison with pre‐ and postnatal magnetic resonance imaging
To report on the prenatal ultrasound findings in fetuses with lissencephaly associated with Miller–Dieker syndrome (MDS) and to compare these findings with those of magnetic resonance imaging (MRI).
The agyria-pachygyria complex: A spectrum of cortical malformations
Pachygyric cortical abnormalities form a broad spectrum that raises different clinical, nosological and genetic problems and a precise analysis of each case is necessary to establish the prognosis and risk of recurrence. Expand
Obstetric and neonatal outcomes in apparently isolated mild fetal ventriculomegaly
To determine obstetrical and neonatal outcomes in referrals of apparently isolated mild ventriculomegaly following routine ultrasound scan, over the period 2001–2003, 30 cases of suspected isolated mild vents were identified. Expand
Miller-Dieker syndrome: lissencephaly and monosomy 17p.
It is proposed that monosomy of distal 17p may be the cause of Miller-Dieker syndrome in some patients because of abnormalities of chromosome 17 in two of three unrelated patients with this syndrome. Expand
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
The manifestations of 3 disorders associated with type I (classical) lissencephaly are discussed, including the Miller-Dieker syndrome with or without deficiency of 17p13, Norman-Roberts syndrome, and isolated lissENCEphaly sequence. Expand
Classification of congenital abnormalities of the CNS.
A classification of congenital cerebral, cerebellar, and spinal malformations is presented with a view to its practical application in neuroradiology. The classification is based on the MR appearanceExpand
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
The distinct LIS patterns suggest that LIS1 and XLIS may be part of overlapping, but distinct, signaling pathways that promote neuronal migration. Expand