Differential Diagnosis of Pediatric Ataxia
The differential diagnosis for pediatric ataxia is broad and can be categorized based on the likelihood and potential impact of missing a diagnosis.
Single Most Likely Diagnosis
- Acute cerebellitis: This is often the most common cause of acute ataxia in children, usually following a viral infection. It presents with sudden onset of ataxia, which can be accompanied by other symptoms like headache, vomiting, and fever.
Other Likely Diagnoses
- Post-infectious cerebellar ataxia: Similar to acute cerebellitis but specifically occurs after an infection, with a more gradual onset.
- Toxic ingestions (e.g., alcohol, certain medications): Can cause ataxia due to their effects on the central nervous system.
- Trauma: Head injuries can result in ataxia due to damage to the cerebellum or its connections.
- Benign paroxysmal vertigo of childhood: A condition characterized by recurrent episodes of vertigo and ataxia, often triggered by specific movements.
Do Not Miss Diagnoses
- Brain tumors (e.g., medulloblastoma, cerebellar astrocytoma): Although less common, these can present with ataxia and are critical to diagnose early due to their potential for serious morbidity and mortality.
- Stroke: Though rare in children, a stroke can cause ataxia and is a medical emergency requiring immediate intervention.
- Wernicke's encephalopathy: Caused by thiamine deficiency, often seen in malnourished children or those with conditions leading to malabsorption, and can present with ataxia, ophthalmoplegia, and confusion.
- Subacute sclerosing panencephalitis (SSPE): A rare but fatal condition caused by a persistent measles virus infection, presenting with progressive neurological deterioration including ataxia.
Rare Diagnoses
- Ataxia-telangiectasia: A genetic disorder characterized by progressive ataxia, telangiectasias, and immunodeficiency.
- Friedreich's ataxia: An autosomal recessive genetic disorder causing progressive damage to the nervous system, presenting with ataxia, dysarthria, and sensory deficits.
- Abetalipoproteinemia: A rare genetic disorder affecting fat absorption and leading to neurological symptoms including ataxia due to vitamin E deficiency.
- Ataxia with vitamin E deficiency (AVED): A condition similar to Friedreich's ataxia but responsive to vitamin E supplementation, highlighting the importance of early diagnosis and treatment.