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Brain and spinal manifestations of Miller-Dieker syndrome

David T Hsieh1, Melanie M Jennesson, Elizabeth A Thiele

  • 1Pediatric Epilepsy Program (DTH, MMJ, EAT) and Departments of Pediatric Neuroradiology (PAC), Pediatric Surgery (PTM), and Pediatric Neurosurgery (A-CD), Massachusetts General Hospital, Boston.

Neurology. Clinical Practice
|May 2, 2013
PubMed

Insights

Miller-Dieker syndrome (MDS) in an infant with a LIS1 deletion presented with seizures, urinary tract infection, and a buttock abscess. Surgical intervention for the infected sinus tract was performed, with tethered cord release planned post-infection.

Area of Science:

  • Pediatric Neurology
  • Medical Genetics
  • Infectious Disease

Background:

  • Miller-Dieker syndrome (MDS) is a rare genetic disorder characterized by lissencephaly and developmental delays.
  • Infants with MDS are susceptible to various complications, including infections.
  • Urinary tract infections and spinal abnormalities can occur in infants with MDS.

Observation:

  • A 6-month-old infant with LIS1 deletion-positive MDS presented with increased seizures.
  • The infant had a concurrent Pseudomonal and Enterococcal urinary tract infection and a buttock abscess linked to a lumbosacral dermal sinus tract.

Findings:

  • Neuraxis MRI revealed lissencephaly, a tethered cord, and an infected lumbosacral dermal sinus tract.
  • The dermal sinus tract did not communicate with the spinal canal and was surgically excised.
  • The associated abscess was drained, and tethered cord release is planned post-infection resolution.

Implications:

  • This case highlights the complex interplay between genetic predisposition (MDS), infection, and neurological complications in infants.
  • Early identification and management of infections and associated structural abnormalities are crucial for improving outcomes in infants with MDS.
  • The successful surgical management of the dermal sinus tract and abscess, despite the underlying lissencephaly and tethered cord, demonstrates a feasible treatment pathway.

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