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      Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

      , MD 1 , , MBBS, MA, MEd, FRCPC 2 , , MD, FRCP(C) 3 , , BSc, MSc, MD, FRCP(C), FCCMG 4

      AJP Reports

      Thieme Medical Publishers

      lissencephaly, Miller–Dieker syndrome, congenital lobar emphysema

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          Abstract

          Miller–Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema. We believe that this is the first reported case of the two conditions presenting in the same patient.

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          Most cited references 12

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          Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development.

           A. Boris (2007)
          Lissencephaly is a severe human neuronal migration defect characterized by a smooth cerebral surface, mental retardation and seizures. LIS1 was first gene cloned in an organism important for neuronal migration, as it was deleted or mutated in patients with lissencephaly in a heterozygous fashion. Studies in model organisms, particularly Aspergillus nidulans, as well as those in the mouse, have uncovered an evolutionarily conserved pathway that involves LIS1 and cytoplasmic dynein. This pathway codes for proteins in a complex with cytoplasmic dynein and positively regulates its conserved function in nuclear migration. This complex appears to be important for proliferation and neuronal survival as well as neuronal migration. One of the components of this complex, NDEL1, is a phosphoprotein that is a substrate for CDK5 (or CDK2 in fibroblasts) and Aurora-A, two mitotic kinases. CDK5-phosphorylated NDEL1 binds to 14-3-3epsilon, which protects it from phosphatase attack. Interestingly, 14-3-3epsilon is located 1 Mb from LIS1 and is heterozygously deleted with LIS1 in patients with a severe form of lissencephaly, Miller-Dieker syndrome. Mouse models confirm that 14-3-3epsilon plays an important role in neuronal migration, and mice that are double heterozygotes for mutations in Lis1 and 14-3-3epsilon, display more severe neuronal migration defects. The identification of LIS1 as the first lissencephaly gene, and the first gene required for neuronal migration has revealed the importance of the regulation of cytoplasmic dynein in the control of neuronal migration by modulating nuclear migration in a pathway conserved in virtually all eukaryotes.
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            Asymptomatic congenital lung malformations.

            Congenital lung malformations are often discovered incidentally on routine prenatal sonography or postnatal imaging. Lesions such as congenital cystic adenomatoid malformations (CCAM), sequestrations, bronchogenic cysts and congenital lobar emphysema may be asymptomatic at birth or at the time of discovery later in life. Some authors advocate simple observation because of the lack of data on the incidence of long-term complications. However, there are very few described cases where CCAM and intralobar sequestration have remained asymptomatic throughout life; complications eventually develop in virtually all patients. The most common complication is pneumonia, which may respond poorly to medical treatment. Other complications include the development of malignancies (carcinomas and pleuropulmonary blastomas), pneumothorax and hemoptysis or hemothorax. Since lung resection will be required sooner or later for CCAM, intralobar sequestration and intrapulmonary bronchogenic cysts it is best not to wait for complications to occur. For patients diagnosed prenatally, we recommend surgery at 3 to 6 months of life at the latest, so that compensatory lung growth can occur. At this age the postoperative course is usually smooth and long-term follow-up has shown normal respiratory function. Mediastinal bronchogenic cysts also tend to become symptomatic and elective resection is recommended. On the other hand, asymptomatic congenital lobar emphysema may regress spontaneously and observation is warranted. The management of small noncommunicating extralobar sequestrations is more controversial; it is known that these lesions can remain asymptomatic throughout life but complications may develop and they are sometimes difficult to differentiate from neuroblastoma.
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              Congenital masses of the lung: prenatal and postnatal imaging evaluation.

              Congenital masses of the lung are a spectrum of interrelated abnormalities that includes congenital lobar overinflation, bronchogenic cyst, congenital cystic adenomatoid malformation (CCAM) and sequestration. The prenatal and postnatal imaging features of these lesions are reviewed, emphasizing the importance of serial prenatal sonograms and postnatal imaging studies, including radiography and computed tomography. Masses that become inconspicuous, or disappear on serial prenatal sonograms are discussed, as well as the importance of postnatal imaging studies in the evaluation of these lesions. Finally, the management of congenital masses of the lung is reviewed, emphasizing the importance of imaging studies in the preoperative evaluation.
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                Author and article information

                Journal
                AJP Rep
                AJP Rep
                10.1055/s-00000169
                AJP Reports
                Thieme Medical Publishers (333 Seventh Avenue, New York, NY 10001, USA. )
                2157-6998
                2157-7005
                28 March 2014
                May 2014
                : 4
                : 1
                : 13-16
                130040
                10.1055/s-0033-1364192
                4078132
                © Thieme Medical Publishers
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