Ataxia.

[pyruvate dehydrogenase deficiency]

The approach to the child with ataxia requires a detailed history and careful general and neurological examination as well as selected blood work and brain imaging and increasingly available genetic testing for inherited ataxias that usually have an episodic or progressive presentation . The differential of acute and recurring ataxia covered in this chapter includes intoxication (e .g ., antiepileptics , lead , alcohol ), postinfectious cerebellitis , hemorrhage , ischemic stroke , tumor (posterior fossa or cerebellum ), brainstem encephalitis , occult neuroblastoma , Miller Fisher syndrome , conversion reaction , multiple sclerosis , epileptic pseudoataxia , vasculitis (e .g ., Kawasaki ), metabolic etiologies (e .g ., maple syrup urine disease , pyruvate dehydrogenase deficiency , ornithine transcarbamylase deficiency , biotinidase deficiency , Hartnup disease , and argininosuccinic aciduria ), migraine , migraine equivalents (benign paroxysmal positional vertigo ), autosomal dominant episodic ataxias (with seven types currently identified ), and hypothyroidism . Cooperation with therapists and providers from other specialties including ophthalmology and genetics and metabolism is essential to caring for these children and their families .

Diseases
Validation

Diseases presenting "increasingly available genetic testing for inherited ataxias that usually have an episodic or progressive presentation" symptom

pyruvate dehydrogenase deficiency

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