Chiari malformation

• Arnold-Chiari malformation
• Chiari II malformation
• Arnold-Chiari II

• 348.4 Compression of brain
• 742.2 Congenital reduction for deformities of brain

• G93.5 Compression of brain
• Q04.8 Other specified congenital malformations of brain
• Q07.0 Arnold-Chiari syndrome
• Q07.00 Arnold-Chiari syndrome without spina bifida or hydrocephalus
• Q07.01 Arnold Chiari syndrome with spina bifida
• Q07.02 Arnold-Chiari syndrome with hydrocephalus
• Q07.03 Arnold-Chiari syndrome with spina bifida and hydrocephalus

• 5C: Impaired Motor Function and Sensory Integrity Associated with Nonprogressive Disorders of the Central Nervous System – Congenital Origin or Acquired in Infancy or Childhood

Description

• Defect in cephalad portion of spinal column
• Herniation of portions of the brainstem and spinal cord through the foramen magnum, including the cerebellum, medulla, and cervical spinal cord

Essentials of Diagnosis

• Characteristic signs and symptoms with diagnosis confirmed by MRI

General Considerations

• Most often occurs in presence of spina bifida

Demographics

• 90% of patients with Chiari malformation also have hydrocephalus
• Three times more common in females than males2

Signs and Symptoms

• Respiratory difficulties
  • Apnea
  • Coughing
  • Stridor
• Vision difficulties
  • Nystagmus
  • Diplopia
  • Blurred vision
  • Esotropia
• Bradycardia
• Cranial nerve palsies
• Ataxia
• Vertigo
• Hydrocephalus
• Headache
• Neck pain
• Decreased balance
• Spasticity, numbness or tingling in hands
• Poor fine-motor skills
• Slurred speech
• Developmental delay

Functional Implications

• Delayed motor development
• Difficulty swallowing
• Poor balance

Possible Contributing Causes

• Abnormality during fetal development
• Teratogens
• Possible genetic link
• Infection
• Insufficient maternal vitamins or minerals during gestation

Differential Diagnosis

• Brain tumor
• Syringomyelia

Imaging

• MRI

• MRI positive for herniation of neural tissue into foramen magnum

Medical Procedures

• Tracheostomy
• Gastrostomy
• Posterior fossa decompression
• Cervical laminectomy

• Geneticist
• Neurologist
• Orthopedic surgeon
• Occupational therapist
• Speech therapist
• Admittance for surgical procedures, such as
  • Tracheostomy
  • Gastrostomy
  • Posterior fossa decompression
  • Cervical laminectomy

• Delayed motor milestones
  • Rolling
  • Sitting
• Decreased balance in sitting
• Additional impairments typically associated with spina bifida

• Pediatric Evaluation of Disability Inventory (PEDI)
• Manual muscle test

• Therapy
• Child should avoid activities associated with risk for cervical injury
• Developmental activities to facilitate gross motor development
  • Prone on elbows
  • Rolling
  • Sitting
• Balance training

• Patient will be able to:
  • Stay prone on elbows for 30 seconds to increase strength in 2 months
  • Roll prone-to-supine and supine-to-prone independently to increase mobility in 3 months
  • Prop self with hands on floor for 30 seconds with stand-by assistance to increase upright activities in 4 months
  • Sit independently for 1 minute with stand-by assistance to improve balance in 1 month

• No effect on lifespan following surgical repair