Miller-Dieker syndrome (lissencephaly)
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A newborn with a small head has severe hypotonia and seizures. MRI reveals a smooth brain surface (agyria). CMA shows a 17p13.3 deletion.
Contiguous gene deletion at 17p13.3 including LIS1 (PAFAH1B1) and YWHAE
- Lissencephaly (smooth brain, absent gyri)
- Severe intellectual disability (Miller affects the Mind), seizures
- Characteristic facies: bitemporal narrowing, prominent forehead
- Early death (most by age 2 years)
- CMA for 17p13.3 deletion; isolated lissencephaly → LIS1 sequencing
- Supportive and palliative care given the severe prognosis; antiseizure medication for refractory epilepsy
- Feeding support (gastrostomy) for dysphagia and aspiration risk; treat recurrent respiratory infections
- Multidisciplinary developmental support and family/genetic counseling (recurrence risk depends on whether a parent carries a balanced rearrangement)
Miller-Dieker = Micro-Deletion at 17p13.3 (LIS1 + YWHAE).
"MILLER": MIcrodel @ chr. 17p with Lissencephaly & Epilepsy.
13.3 hidden in MILLER: rotate the M and the E in MILLER 90° and each becomes a 3, the two 3's in 17p13.3.
Rotate the 7 → L: rotate the 7 in 17p 180° and you get an L, the first L in MILLER. The second L then stands for Lissencephaly.