Arnold-Chiari malformation history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Patients with Arnold-Chiari malformation may have a positive history of lumbar puncture, lumbar-peritoneal shunt, hydrocephalus, syringomyelias,Tethered spinal cord syndrome, neurofibromatosis type 1, Noonan syndrome, Pierre Robin sequence, Klippel-Feil syndrome, Albright hereditary osteodystrophy, x-linked aqueductal stenosis, Goldenhar syndrome, Williams syndrome, Shprintzen- goldberg syndrome, achondroplasia, familial osteosclerosis, velocardiofacial syndrome, and connective tissue disorders. The most common symptoms of Arnold-Chiari malformation is headache, arm pain and weakness, neck pain, nausea and vomiting, balance problem, dizziness and ear ringing.

Patients with Arnold-Chiari malformation may have a positive history of: ^{[1][2][3][4][5][6]}

• Female gender
• Lumbar puncture
• Lumbar-peritoneal shunt
• Connective tissue disorder
• Hydrocephalus
• Syringomyelias
• Syndromes such as:
  • Tethered spinal cord syndrome
  • Neurofibromatosis type 1
  • Noonan syndrome
  • Pierre Robin sequence
  • Klippel-Feil syndrome
  • Albright hereditary osteodystrophy
  • X-linked aqueductal stenosis
  • Goldenhar syndrome
  • Williams syndrome
  • Shprintzen- goldberg syndrome
  • Achondroplasia
  • Familial osteosclerosis
  • Velocardiofacial syndrome

• Common symptoms of Arnold-Chiari malformation type 1 and 2 include:^[7][8][9]
  • In infants
    • Stridor
    • Swallowing difficulties
  • In older children
    • Limb weakness
    • Dizziness
    • Vertigo
    • Neuropathic pain
    • Pain at the point of tethering
    • Visual disturbances
    • Difficulty swallowing
    • Ringing in the ears
    • Sleep apnea
    • Impaired fine motor skills
    • Muscle weakness
    • Palpitations
    • Excessive clearing of the throat with no obstructions

NOTE: Patients may experience no symptoms or remain asymptomatic until early adulthood at which point they will often experience severe headaches and neck pain.

NOTE: Some patients may go an entire lifetime without having noticeable symptoms. Or, symptoms can be minimal, then turn severe suddenly due to head trauma which alters the condition of the spine, brain, or cerebellar tonsils and begins to cause more difficulties.

• Common symptoms of Arnold-Chiari malformation type 3 and 4 include:
  • Respiratory failure in infancy
  • Seizure (epilepsy)
  • Mental retardation
  • Flaccid or spastic paralysis
  • Sever neurological problems

    

Less common symptoms of Arnold-Chiari malformation include:

• Fatigue
• Breathing difficulties

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