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Neuromuscular disorders

1. (Myelodysplasia)

Congenital disorder of development of posterior vertebral arch and or spinal cord, lumbo/lumbosacral area.

Incidence laminar defects 5%, cystic 2-3/1000 live births. If one child affected risk increased by ten times

Screening serum alphafeto protein, ultrasound. Folic acid for peri pregnant women

Pathology

Spina bifida occulta-

  • midline defect in lamina, may have overlying dimple or hairy patch. 

  • Occasional intraspinal anomalies, tethering of conus medullaris, diastomatomyelia, cysts/lipomas of cauda equina

    Spina bifida cystica-

Spina bifida cystica-

  • Prolapse of CSF filled meningeal sac = meningocoele

  • Lipoma in sac with neural elements intertwined = lipomeningocele

  • Prolapse of sac containing spinal cord and nerve roots = myelomeningocoele

  • If cord in primitive state, neural plate forming roof of sac = open myelomeningocoele = rachischisis

    Hydrocephalus-

Hydrocephalus-

  • Distal tethering of cord may cause herniation of cerebellum through foramen magnum causing a CSF block (70% of spina bifida get this)

    Neurological dysfunction

Neurological dysfunction

  • myelomeningocoele always ass with neurological dysfunction below level

  • occulta occ. ass with less severe neurological dysfunction

Clinically

OCCULTA 

  • isolated laminar defects often in clinically normal people

  • hairy patch, dimple naevus, signifies more serious disease

  • May present at any age with neuro symptoms, Cauda equina or weakness

  • Xrays show laminar defect. Bony midline ridge suggests diastomatomyelia

  • Intra spinal lesions shown on MRI

CYSTICA 

  • Obvious defect at birth. Abnormal baby posture in utero - muscle imbalance, hip dislocation, talipes, claw toes

  • 1/3rd = complete lower motor neuron paralysis and loss of sensation and sphincter control below level

  • 1/3rd = complete lesion at some level but distal segment of cord preserved- intact upper motor neuron lesions below

  • 1/3rd = cord lesion incomplete so some movement and sensation preserved



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