PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of ncpLink to Publisher's site
 
Neurol Clin Pract. 2013 February; 3(1): 82–83.
PMCID: PMC3613215

Brain and spinal manifestations of Miller-Dieker syndrome

David T. Hsieh, MD,corresponding author

Scientific Advisory Boards:

  1. NONE

Gifts:

  1. NONE

Funding for Travel or Speaker Honoraria:

  1. NONE

Editorial Boards:

  1. NONE

Patents:

  1. NONE

Publishing Royalties:

  1. NONE

Employment, Commercial Entity:

  1. NONE

Consultancies:

  1. NONE

Speakers' Bureaus:

  1. NONE

Other Activities:

  1. NONE

Clinical Procedures or Imaging Studies:

  1. NONE

Research Support, Commercial Entities:

  1. NONE

Research Support, Government Entities:

  1. NONE

Research Support, Academic Entities:

  1. NONE

Research Support, Foundations and Societies:

  1. NONE

Stock/Stock Options/Board of Directors Compensation:

  1. NONE

License Fee Payments, Technology or Inventions:

  1. NONE

Royalty Payments, Technology or Inventions:

  1. NONE

Stock/Stock Options, Research Sponsor:

  1. NONE

Stock/Stock Options, Medical Equipment & Materials:

  1. NONE

Legal Proceedings:

  1. NONE
Melanie M. Jennesson, MD,

Scientific Advisory Boards:

  1. NONE

Gifts:

  1. NONE

Funding for Travel or Speaker Honoraria:

  1. NONE

Editorial Boards:

  1. NONE

Patents:

  1. NONE

Publishing Royalties:

  1. NONE

Employment, Commercial Entity:

  1. NONE

Consultancies:

  1. NONE

Speakers' Bureaus:

  1. NONE

Other Activities:

  1. NONE

Clinical Procedures or Imaging Studies:

  1. NONE

Research Support, Commercial Entities:

  1. NONE

Research Support, Government Entities:

  1. NONE

Research Support, Academic Entities:

  1. NONE

Research Support, Foundations and Societies:

  1. received financial assistance from the “association des Amis de l'American Memorial Hospital de Reims” (France).

Stock/Stock Options/Board of Directors Compensation:

  1. NONE

License Fee Payments, Technology or Inventions:

  1. NONE

Royalty Payments, Technology or Inventions:

  1. NONE

Stock/Stock Options, Research Sponsor:

  1. NONE

Stock/Stock Options, Medical Equipment & Materials:

  1. NONE

Legal Proceedings:

  1. NONE
Elizabeth A. Thiele, MD, PhD,

Scientific Advisory Boards:

  1. 1. Board of directors, Tuberous Sclerosis Alliance; 2. Scientific advisory board, Angelman Syndrome Foundation; 3. Scientific advisory board, Charlie Foundation

Gifts:

  1. NONE

Funding for Travel or Speaker Honoraria:

  1. 1. Novartis Pharmaceuticals, consulting honoraria and travel to meeting; 2. Tuberous Sclerosis Alliance, funding to travel and lodging for board of director meeting

Editorial Boards:

  1. NONE

Patents:

  1. NONE

Publishing Royalties:

  1. Tuberous Sclerosis Complex, Genes, Clinical Features and Therapeutics, Wiley Blackwell 2010

Employment, Commercial Entity:

  1. NONE

Consultancies:

  1. 1. Lundbeck Pharmaceuticals, consultant re: vigabatrin development, 2. Novartis Pharmaceuticals, 3. Upsher Smith Pharmaceuticals, 4. Sunovion Pharmaceuticals

Speakers' Bureaus:

  1. NONE

Other Activities:

  1. 1. Penry epilepsy courses; faculty, 2. Neuroresident scholar program (sponsored by UCB) , faculty

Clinical Procedures or Imaging Studies:

  1. NONE

Research Support, Commercial Entities:

  1. participated in Lundbeck Clobazam clinical trials as site PI (not personal financial support, but study funding)

Research Support, Government Entities:

  1. NIH Current, 2004-2011, NIH Program Project Grant P01 NS024279, Molecular Genetics of Inherited Neurological Diseases P.I. Clinical Core (P.I. Xandra O. Breakefield) 2005-2010 Site PI NIH/NCI R01 CA107164, Multicenter trial of rapamycin in angiomyolipoma and lymphangioleiomyomatosis in Tuberous Sclerosis Complex (Dr. S. Dabora, PI)

Research Support, Academic Entities:

  1. NONE

Research Support, Foundations and Societies:

  1. 2007- Site PI, Tuberous Sclerosis Alliance, TSC Natural History Database Project, 2009-2012Co-PI, Tuberous Sclerosis Alliance, Impact of ketogenic / low-glycemic treatments on TSC pathology

Stock/Stock Options/Board of Directors Compensation:

  1. NONE

License Fee Payments, Technology or Inventions:

  1. NONE

Royalty Payments, Technology or Inventions:

  1. NONE

Stock/Stock Options, Research Sponsor:

  1. NONE

Stock/Stock Options, Medical Equipment & Materials:

  1. NONE

Legal Proceedings:

  1. NONE
Paul A. Caruso, MD,

Scientific Advisory Boards:

  1. NONE

Gifts:

  1. NONE

Funding for Travel or Speaker Honoraria:

  1. NONE

Editorial Boards:

  1. NONE

Patents:

  1. NONE

Publishing Royalties:

  1. NONE

Employment, Commercial Entity:

  1. NONE

Consultancies:

  1. NONE

Speakers' Bureaus:

  1. NONE

Other Activities:

  1. NONE

Clinical Procedures or Imaging Studies:

  1. NONE

Research Support, Commercial Entities:

  1. NONE

Research Support, Government Entities:

  1. NONE

Research Support, Academic Entities:

  1. NONE

Research Support, Foundations and Societies:

  1. NONE

Stock/Stock Options/Board of Directors Compensation:

  1. NONE

License Fee Payments, Technology or Inventions:

  1. NONE

Royalty Payments, Technology or Inventions:

  1. NONE

Stock/Stock Options, Research Sponsor:

  1. NONE

Stock/Stock Options, Medical Equipment & Materials:

  1. NONE

Legal Proceedings:

  1. NONE
Peter T. Masiakos, MS, MD,

Scientific Advisory Boards:

  1. NONE

Gifts:

  1. NONE

Funding for Travel or Speaker Honoraria:

  1. NONE

Editorial Boards:

  1. NONE

Patents:

  1. NONE

Publishing Royalties:

  1. NONE

Employment, Commercial Entity:

  1. NONE

Consultancies:

  1. NONE

Speakers' Bureaus:

  1. NONE

Other Activities:

  1. NONE

Clinical Procedures or Imaging Studies:

  1. NONE

Research Support, Commercial Entities:

  1. NONE

Research Support, Government Entities:

  1. NONE

Research Support, Academic Entities:

  1. NONE

Research Support, Foundations and Societies:

  1. NONE

Stock/Stock Options/Board of Directors Compensation:

  1. NONE

License Fee Payments, Technology or Inventions:

  1. NONE

Royalty Payments, Technology or Inventions:

  1. NONE

Stock/Stock Options, Research Sponsor:

  1. NONE

Stock/Stock Options, Medical Equipment & Materials:

  1. NONE

Legal Proceedings:

  1. NONE
and Ann-Christine Duhaime, MD

Scientific Advisory Boards:

  1. NONE

Gifts:

  1. NONE

Funding for Travel or Speaker Honoraria:

  1. NONE

Editorial Boards:

  1. Journal of Neurosurgery Publishing Group, editorial board (Journal of Neurosurgery and Journal of Neurosurgery, Pediatrics)

Patents:

  1. NONE

Publishing Royalties:

  1. NONE

Employment, Commercial Entity:

  1. NONE

Consultancies:

  1. NONE

Speakers' Bureaus:

  1. NONE

Other Activities:

  1. NONE

Clinical Procedures or Imaging Studies:

  1. NONE

Research Support, Commercial Entities:

  1. NONE

Research Support, Government Entities:

  1. NONE

Research Support, Academic Entities:

  1. NONE

Research Support, Foundations and Societies:

  1. NONE

Stock/Stock Options/Board of Directors Compensation:

  1. NONE

License Fee Payments, Technology or Inventions:

  1. NONE

Royalty Payments, Technology or Inventions:

  1. NONE

Stock/Stock Options, Research Sponsor:

  1. NONE

Stock/Stock Options, Medical Equipment & Materials:

  1. NONE

Legal Proceedings:

  1. NONE

Abstract

A 6-month-old infant with LIS1 17p13.3 deletion-positive Miller-Dieker syndrome (MDS) presented with increased seizures in the setting of a Pseudomonal and Enterococcal urinary 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.

A 6-month-old infant with LIS1 17p13.3 deletion-positive Miller-Dieker syndrome (MDS) presented with increased seizures in the setting of a Pseudomonal and Enterococcal urinary 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.

Figure 1
Axial T2-weighted MRI of the brain demonstrating agyria and ventriculomegaly, the imaging features of lissencephaly
Figure 2
Spine MRI

The neurologic manifestations of MDS can include cognitive delays, cerebral palsy, and epilepsy that is often difficult to treat. Typical facial dysmorphisms can include forehead prominence and a short upturned nose. Sacral dimples are common in patients with MDS,1 and may harbor an underlying dermal sinus tract. When in communication with the neuraxis or when complicated by infection, surgical resection of the dermal sinus tract is indicated. Dermal sinus tracts may also be associated with abnormalities in the spinal cord, including caudal intraspinal lipomas or cord tethering. Tethered cords have been reported previously in MDS1,2 and can result in neurogenic bladder dysfunction resulting in frequent urinary tract infections. Additionally, as progressive motor or sensory deterioration can also occur, tethered cord release is advisable. In addition to lissencephaly, spinal dysraphisms should be considered in the spectrum of possible CNS dysgenetic manifestations of 17p13.3 deletions.

DISCLOSURES

The authors report no disclosures relevant to the manuscript. Go to Neurology.org/cp for full disclosures.

REFERENCES

1. Dobyns WB, Curry CJ, Hoyme HE, et al. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet 1991;48:584–594. [PubMed]
2. Chen SJ, Peng SF, Kuo MF, et al. Miller-Dieker syndrome associated with tight filum terminale. Pediatr Neurol 2006;34:228–230. [PubMed]

Articles from Neurology: Clinical Practice are provided here courtesy of American Academy of Neurology