Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

Linda Mahgoub; Khalid Aziz; Dawn Davies; Norma Leonard

doi:10.1055/s-0033-1364192

American Journal of Perinatology Reports, Inhaltsverzeichnis

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

Autor*innen

Linda Mahgoub

¹Department of Pediatrics, The Stollery Children's Hospital, Edmonton, Alberta, Canada
Khalid Aziz

²Department of Pediatrics, University of Alberta, NICU Royal Alexandra Hospital, Kingsway, Edmonton, Alberta, Canada
Dawn Davies

³Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
Norma Leonard

⁴Department of Medical Genetics, University of Alberta Campus, Edmonton, Alberta, Canada

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

Volltext

Referenzen

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
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
3 Wynshaw-Boris A. Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development. Clin Genet 2007; 72 (4) 296-304
4 Herman TE, Siegel MJ. Miller—Dieker syndrome, type 1 lissencephaly. J Perinatol 2008; 28 (4) 313-315
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
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
7 Chen CP, Chien SC. Prenatal Sonographic Features of Miller-Dieker Syndrome. J Med Ultrasound 2010; 18 (4) 147-152
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
9 Winters WD, Effmann EL. Congenital masses of the lung: prenatal and postnatal imaging evaluation. J Thorac Imaging 2001; 16 (4) 196-206
10 Ulku R, Onat S, Ozçelik C. Congenital lobar emphysema: differential diagnosis and therapeutic approach. Pediatr Int 2008; 50 (5) 658-661
11 Laberge JM, Puligandla P, Flageole H. Asymptomatic congenital lung malformations. Semin Pediatr Surg 2005; 14 (1) 16-33
12 Correia-Pinto J, Gonzaga S, Huang Y, Rottier R. Congenital lung lesions—underlying molecular mechanisms. Semin Pediatr Surg 2010; 19 (3) 171-179
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
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