Ataxia

Ataxia is due to dysfunction of the cerebellum or its connections. It can present as an acute or chronic/progressive illness. Associated signs and symptoms such as papilledema, myoclonus, and retinopathy help determine the underlying etiology.

Differential Diagnosis

• Infectious
  –Postinfectious cerebellitis: Due to varicella, EBV, mumps, Legionella, hepatitis A
  –Encephalitis, acute disseminated encephalomyelitis (ADEM)
  –Cerebellar abscess
  –Labyrinthitis
• Toxic/metabolic encephalopathy
  –Phenytoin, carbamazepine, antihistamines, sedatives, and ethanol
• Posterior fossa tumor
  –Medulloblastoma, glioma
• Opsoclonus/myoclonus syndrome: May be postinfectious or paraneoplastic (reaction most likely to neuroblastoma)
• Friedreich ataxia: Absent DTRs, positive Babinski sign, proprioceptive sensory loss, dysarthria, cardiomyopathy, diabetes
• Ataxia-telangiectasia
• Miller-Fisher variant of Guillain-Barré syndrome, with areflexia, ophthalmoparesis
• Basilar migraine
• Postconcusssion
• Seizure
• Arnold-Chiari, Dandy-Walker malformation
• Cerebellar hemorrhage or ischemia
• Multiple sclerosis
• Vitamin E (AVED), biotinidase deficiency
• Metabolic disorders
  –Urea cycle disorders
  –Organic acidurias (maple syrup urine disease)
  –Carbohydrate-deficient glycoprotein syndrome
• Sphingolipidoses (GM2, Niemann-Pick type C, metachromatic leukodystrophy, Krabbe disease)
• Neuronal ceroid-lipofuscinosis
• Mitochondrial disease
  –NARP, MERRF, Kearns-Sayre syndrome
• Spinocerebellar ataxias (SCA)
• Hartnup disease
• Refsum disease
• Episodic ataxia type I/II (channelopathy)
• Celiac disease
  –Have cerebellar calcification
• Conversion disorder

Workup and Diagnosis

• History: Acute vs chronic, progression, episodicity, recent illness (especially varicella), ingestion of toxins or drugs, trauma, previous episode of ataxia, headaches, gait disturbance, family history of migraine or spinocerebellar ataxias
• Physical exam
  –Skin (telangiectasias), ear, sinus examination
  –Cardiac exam, abdominal masses (for neuroblastoma)
  –Neurologic exam: Cranial nerve and cerebellar examinations, papilledema, extraocular eye movements and nystagmus, DTRs, Babinski sign, proprioceptive sense, Romberg sign
• Labs
  –Toxicology screen
  –LP (only after neuroimaging) for infection/GBS/MS
  –HVA, VMA levels (for neuroblastoma)
  –Thoracic and abdominal MRI for neuroblastoma
  –EEG for seizures
• Metabolic testing: Serum amino acids, vitamin E, cholesterol and subtypes, lactate, pyruvate, ammonia, α - feto protein (for ataxia telangiectasia), lysosomal enzymes, transferrin eletrophoresis
  –Electromicroscopy of lymphocytes for inclusion bodies
  –Muscle biopsy for mitochondrial disease
  • Genetic testing for Friedreich ataxia and SCA
  • Imaging: CT or MRI for mass lesion or demyelination
    –MRI is superior to CT for detection of posterior fossa

  Treatment

  • In most cases, the treatment will be supportive
  • Exogenous toxins should be stopped and removed
  • Neoplasms, abscesses, hemorrhage require neurosurgical evaluation and intervention
  • Patients with Friedreich ataxia and mitochondrial disease need cardiac evaluation
  • Miller-Fisher variant of Guillain-Barré syndrome
    –Usually has a very good prognosis
    –IV immunoglobulin or plasmaphoresis may be used
  • Opsoclonus/myoclonus syndrome
    –Treated with steroids, ACTH, or IVIG
    –Neuroblastoma needs surgical evaluation
  • ADEM: Treat with high-dose intravenous steroids
  • AVED: Treat with vitamin E
  • Biotinidase deficiency: Treat with biotinidase
  • Hartnup disease: Treat with niacin
  • Refsum disease: Dietary restriction of phytanic acid
  • Epidosic ataxia: Treat with acetazolamide

Book Source Details

• Book Title: In A Page: Pediatric Signs and Symptoms
• Author(s): Jonathan E. Teitelbaum, Kathleen O. Deantonis, Scott Kahan
• Year of Publication: 2007
• Copyright Details: In A Page: Pediatric Signs and Symptoms, Copyright © 2007 Lippincott Williams & Wilkins.

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Copyright Details: In A Page: Pediatric Signs and Symptoms, Copyright © 2008 Williams & Wilkins.

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More About This Book: Title: In A Page: Pediatric Signs and Symptoms Authors: Jonathan E. Teitelbaum, Kathleen O. Deantonis, Scott Kahan Publisher: Lippincott Williams & Wilkins Copyright: 2007 ISBN: 1-4051-0427-9

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