MYELOSCHISIS
 
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MYELOSCHISIS

 

DEFINITION:

A neural tube defect affecting the spine resulting in a flattened mass of nervous tissue along the spine.

EPIDEMIOLOGY:

  • incidence: 1-2/1000 live births (of spina bifida cystica)
  • age of onset:
    • less than 24 days gestational age
  • risk factors:
    • multifactorial inheritance pattern
    • see "Meningocele"

PATHOGENESIS:

1. Background

  • spina bifida with myeloschisis is the most severe form of spina bifida cystica
  • in this defect, the neural folds fail to meet and fuse leaving the spinal cord open and the involved area represented by a flattened, plate-like mass of nervous tissue with no overlying skin or membrane
  • the etiology is unknown but may be caused by a local overgrowth of the neural plate during neurulation resulting in the failure of the caudal neuropore to close at the end of the 4th week of embryogenesis

CLINICAL FEATURES:

1. Myeloschisis

  • a flattened, plate-like mass of nervous tissue with no overlying skin or membrane
  • ? incompatible with life

INVESTIGATIONS:

1. Imaging Studies

1. Vertebral X-Ray

  • to detect spinal defects

2. CT/MRI

  • to rule out associated anomalies

2. Prenatal Diagnosis

  • elevated maternal serum alpha-fetoprotein (AFP)
  • level II ultrasound
  • amniocentesis - elevated AFP and acetylcholinesterase

MANAGEMENT:

1. Supportive

  • genetic counselling to discuss recurrence rate

2. Prevention

  • decrease the recurrence rate in patients at risk with 1 mg of folic acid daily from the time of conception through the first trimester

 

 

Pediatric Database - MYELOSCHISIS

 

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