Miller-Dieker Syndrom

Management of

general anesthesia in a child with Miller–Dieker syndrome: a case report. Head computed tomography (CT). Head CT showing type I lissencephaly with midline calcification

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Miller-Dieker syndrome (MDS) or is a rare chromosomal anomaly and is one of the conditions considered part of lissencephaly type I (classic) . It is the form of lissencephaly that is most recognizable on prenatal imaging due to its severity .

Clinical presentation

Features include:

CNS
- neuronal migrational anomalies: lissencephaly type I
- prominent subarachnoid spaces
- widened cerebral ventricles
craniofacial
- microcephaly
- calvarial thickening
- bi-temporal pitting
- prominent occiput
- micrognathia
- microgenia
- auricular dysplasia
- flared nostrils
other
- corneal clouding

Pathology

Genetics

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.

Associations

Radiographic features

Antenatal ultrasound

May show many of the above clinicopathological features. There may also be evidence of intra-uterine growth restriction (IUGR).

MRI

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) .

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 and H Dieker.