title: Brain and spinal manifestations of Miller-Dieker syndrome.
abstract: A 6-month-old infant withLIS117p13.3 deletion-positive Miller-Dieker syndrome (MDS) presented with increased seizures in the setting of aPseudomonalandEnterococcalurinary tract infection and a buttock abscess associated with a lumbosacral dermal sinus tract. MRI of the neuraxis revealed lissencephaly (figure 1), a tethered cord without lipoma or other mass (figure 2A), and an infected lumbosacral dermal sinus tract. Communication with the spinal canal could not be appreciated (figure 2B). The dermal sinus was explored and found not to extend into the spinal canal. This tract was excised and the lateral abscess drained. Tethered cord release is planned upon resolution of infection.
authors: Pediatric Epilepsy Program (DTH, MMJ, EAT) and Departments of Pediatric Neuroradiology (PAC), Pediatric Surgery (PTM), and Pediatric Neurosurgery (A-CD), Massachusetts General Hospital, Boston.
authors: David T
authors: DT
authors: Hsieh
authors: Melanie M
authors: MM
authors: Jennesson
authors: Elizabeth A
authors: EA
authors: Thiele
authors: Paul A
authors: PA
authors: Caruso
authors: Peter T
authors: PT
authors: Masiakos
authors: Ann-Christine
authors: AC
authors: Duhaime
references: Pediatr Neurol. 2006 Mar;34(3):228-30
references: 16504794
references: Am J Hum Genet. 1991 Mar;48(3):584-94
references: 1671808