Miller-Dieker syndrome (MDS) or is a rare chromosomal anomaly and is one of the conditions considered part of lissencephaly type I (classic) 6. It is the form of lissencephaly that is most recognizable on prenatal imaging due to its severity 5.
- neuronal migrational anomalies: lissencephaly type I
- prominent subarachnoid spaces
- widened cerebral ventricles
- corneal clouding
It results from a deletion in chromosome 17p13.3, which includes the PAFAH1B1 and YWHAE genes. It is thought to carry an autosomal dominant inheritance.
May show many of the above clinicopathological features. There may also be evidence of intra-uterine growth restriction (IUGR).
The features are those of type I lissencephaly. The brain is usually grossly abnormal in outline, with only a few shallow sulci and shallow Sylvian fissures, taking on an hour glass or figure-8 appearance on axial imaging. The cortex is markedly thickened measuring 12-20 mm (rather than the normal 3-4 mm) 7.
Treatment and prognosis
The overall prognosis is poor with most fetuses not surviving beyond infancy. There may be recurrence rate of ~25% for future pregnancies.
History and etymology
The syndrome is named after J Q Miller 3 and H Dieker.
- 1. Fong KW, Ghai S, Toi A et-al. 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): 716-23. doi:10.1002/uog.1777 - Pubmed citation
- 2. Van zelderen-bhola SL, Breslau-siderius EJ, Beverstock GC et-al. Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20) (p13.3;q13.3) detected by fluorescence in situ hybridization. Prenat. Diagn. 1997;17 (2): 173-9. Prenat. Diagn. (link) - Pubmed citation
- 3. Miller JQ. Lissencephaly in 2 siblings. Neurology. 1963;13 : 841-50. - Pubmed citation
- 4. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
- 5. Ghai S, Fong KW, Toi A et-al. Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development. Radiographics. 26 (2): 389-405. doi:10.1148/rg.262055059 - Pubmed citation
- 6. Volpe JJ. Neurology of the newborn. W B Saunders Co. (2008) ISBN:1416039953. Read it at Google Books - Find it at Amazon
- 7. Barkovich AJ, Koch TK, Carrol CL. The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging. Ann. Neurol. 1991;30 (2): 139-46. doi:10.1002/ana.410300204 - Pubmed citation