PDF herunterladen
AJP Rep 2014; 4(01): 013-016
DOI: 10.1055/s-0033-1364192
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

Linda Mahgoub
1   Department of Pediatrics, The Stollery Children's Hospital, Edmonton, Alberta, Canada
,
Khalid Aziz
2   Department of Pediatrics, University of Alberta, NICU Royal Alexandra Hospital, Kingsway, Edmonton, Alberta, Canada
,
Dawn Davies
3   Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
,
Norma Leonard
4   Department of Medical Genetics, University of Alberta Campus, Edmonton, Alberta, Canada
› Institutsangaben
Weitere Informationen

Publikationsverlauf

13. November 2013

27. November 2013

Publikationsdatum:
28. März 2014 (online)

   Lizenzen und Reprints

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.

Keywords

lissencephaly - Miller–Dieker syndrome - congenital lobar emphysema
 

  • References

  • 1 Fong KW, Ghai S, Toi A, Blaser S, Winsor EJT, Chitayat D. Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging. Ultrasound Obstet Gynecol 2004; 24 (7) 716-723
    CrossrefPubMedGoogle Scholar
  • 2 Lin CY, Chen CP, Liau CL , et al. Prenatal diagnosis of monosomy 17p (17p13.3—>pter) associated with polyhydramnios, intrauterine growth restriction, ventriculomegaly, and Miller-Dieker lissencephaly syndrome in a fetus. Taiwan J Obstet Gynecol 2009; 48 (4) 408-411
    CrossrefPubMedGoogle Scholar
  • 3 Wynshaw-Boris A. Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development. Clin Genet 2007; 72 (4) 296-304
    CrossrefPubMedGoogle Scholar
  • 4 Herman TE, Siegel MJ. Miller—Dieker syndrome, type 1 lissencephaly. J Perinatol 2008; 28 (4) 313-315
    CrossrefPubMedGoogle Scholar
  • 5 Makhoul IR, Eisenstein I, Sujov P , et al. Neonatal lenticulostriate vasculopathy: further characterisation. Arch Dis Child Fetal Neonatal Ed 2003; 88 (5) F410-F414
    CrossrefPubMedGoogle Scholar
  • 6 Dobyns WB, Das S, LIS1-associated lissencephaly/subcortical band heterotopia. In: Pagon RA, Adam MP, Bird TD. , et al., eds. Seattle, WA: University of Washington. 1993–2013. Available at: http://www.ncbi.nlm.nih.gov/books/NBK5189 . Accessed January 1, 2013
    PubMedGoogle Scholar
  • 7 Chen CP, Chien SC. Prenatal Sonographic Features of Miller-Dieker Syndrome. J Med Ultrasound 2010; 18 (4) 147-152
    CrossrefPubMedGoogle Scholar
  • 8 Yamamoto T, Ueda H, Kawataki M , et al. A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies. Am J Med Genet A 2006; 140 (1) 88-91
    PubMedGoogle Scholar
  • 9 Winters WD, Effmann EL. Congenital masses of the lung: prenatal and postnatal imaging evaluation. J Thorac Imaging 2001; 16 (4) 196-206
    CrossrefPubMedGoogle Scholar
  • 10 Ulku R, Onat S, Ozçelik C. Congenital lobar emphysema: differential diagnosis and therapeutic approach. Pediatr Int 2008; 50 (5) 658-661
    CrossrefPubMedGoogle Scholar
  • 11 Laberge JM, Puligandla P, Flageole H. Asymptomatic congenital lung malformations. Semin Pediatr Surg 2005; 14 (1) 16-33
    CrossrefPubMedGoogle Scholar
  • 12 Correia-Pinto J, Gonzaga S, Huang Y, Rottier R. Congenital lung lesions—underlying molecular mechanisms. Semin Pediatr Surg 2010; 19 (3) 171-179
    CrossrefPubMedGoogle Scholar
  • 13 Konishi H, Takahashi T, Kozaki K , et al. Detailed deletion mapping suggests the involvement of a tumor suppressor gene at 17p13.3, distal to p53, in the pathogenesis of lung cancers. Oncogene 1998; 17 (16) 2095-2100
    CrossrefPubMedGoogle Scholar
  • 14 Hersh CP, DeMeo DL, Silverman EK. National Emphysema Treatment Trial state of the art: genetics of emphysema. Proc Am Thorac Soc 2008; 5 (4) 486-493
    CrossrefPubMedGoogle Scholar