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  • Imaging Casebook
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Imaging Case Book

Miller–Dieker syndrome, type 1 lissencephaly

Journal of Perinatology volume 28, pages 313–315 (2008)Cite this article

The cranial sonogram demonstrated an abnormally smooth brain with no gyration or sulcation with a wide, shallow sylvian fissure creating a figure-of-8 appearance. The absence of all gyri is referred to as lissencephaly (smooth brain).1 The corpus callosum was incompletely formed. In addition, at cranial sonography there were echogenic thalamostriate vessels, or so-called thalamostriate vasculopathy. The magnetic resonance imaging demonstrated the partial agenesis of the corpus callosum, lissencephaly, left microphthalmia and a small arachnoid cyst along the parafalcine left parietooccipital cortex. The cerebral cortex, usually measuring less than 3 mm, measured over 5 mm. The colprocephaly and incomplete opercularization with wide shallow sylvian fissures were noted to produce a figure-of-8 appearance to the brain. This appearance is typical of classical or type 1 lissencephaly.1, 2 Chromosomal analysis of the infant demonstrated a deletion of 17p3, confirming a diagnosis of Miller–Dieker syndrome with type 1 lissencephaly.

Lissencephaly is a rare condition. Three types have been described.1 Type l or classical lissencephaly is a neuronal migrational abnormality with a thickened, smooth cerebral cortex, failure of opercularization (closure of the sylvian fissure to cover the insula), colprocephaly and occasional calcifications of the septum pellucidum.2 At birth, there is usually a normal head circumference or a head circumference within 2 s.d. of normal.1 Four genes are known to be associated with classical lissencephaly: LIS1, DCX, ARX and TUBA3. LIS1 gene, located at 17p3, is known to be necessary for the neuronal precursors to undergo normal neuronogenesis and migration. Miller–Dieker syndrome is associated with 17p3 deletions, usually with complete absence of the LIS1 gene, and it is the most common cause of classical lissencephaly. Norman–Roberts syndrome is an autosomal recessive condition associated with type 1 lissencephaly, but with severe microcephaly (less than 3 s.d. below normal). Type 2 lissencephaly, so-called cobblestone lissencephaly, has a granular surface with effacement of gyri. It is found in the autosomal recessive conditions: Walker–Warbury syndrome and Fukuyama syndrome. Type 2 lissencephaly is associated with O-glycosylation enzyme defects resulting in abnormal laminin. Type 3 lissencephaly is associated with severe microcephaly and is a neurodegenerative process with abnormal apoptosis. It occurs in the Neu–Laxova and Encha Razavi Larroche syndromes.

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  1. Department of Radiology, Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA

    T E Herman & M J Siegel

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  1. T E Herman
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  2. M J Siegel
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Correspondence to T E Herman.

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Herman, T., Siegel, M. Miller–Dieker syndrome, type 1 lissencephaly. J Perinatol 28, 313–315 (2008). https://doi.org/10.1038/sj.jp.7211920

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