Ataxias

Question 1

Quais os principais sintomas de uma síndrome cerebelar?

Answer 1

Symptoms and signs of ataxia consist of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement.

Question 2

Quais as causas de ataxia simétricas e progressivas?

Answer 2

Acute: Intoxication: alcohol, lithium, phenytoin, barbiturates (positive history and toxicology screen). Acute viral cerebellitis (CSF supportive of acute viral infection) Postinfection syndrome

Subacute: Intoxication: mercury, solvents, gasoline, glue; cytotoxic . chemotherapeutic, hemotherapeutic drugs. Alcoholic- nutritional (vitamin B1 and B12 deficiency) Lyme disease

Chronic: Paraneoplastic syndrome Anti-gliadin antibody syndrome Hypothyroidism.Inherited diseases Tabes dorsalis (tertiary syphilis) Phenytoin toxicity Amiodarone

Question 3

Quais as causas de ataxia focal e ipsilateral?

Answer 3

Acute: Vascular: cerebellar infarction, hemorrhage, or subdural hematoma Infectious: cerebellar abscess (mass lesion on MRI/CT, history in support of lesion)

Subacute: Neoplastic: cerebellar glioma or metastatic tumor (positive for neoplasm on MRI/CT) Demyelinating: multiple sclerosis (history, CSF, and MRI are consistent). AIDS-related multifocal leukoencephalopathy (positive HIV test and CD4+ cell count for AIDS)

Chronic: Stable gliosis secondary to vascular lesion or demyelinating plaque (stable lesion on MRI/CT older than several months). Congenital lesion: Chiari or DandyWalker malformations (malformation noted on MRI/CT)

Question 4

A abordagem das ataxias visa buscar causar reversíveis para indicar o tratamento. Quais os possíveis tratamentos?

Answer 4

History:
(1) The deleterious effects of phenytoin and alcohol on the cerebellum are well known, and these exposures should be avoided in patients with ataxia of any cause.

MRI:
(2) Mass lesions must be recognized promptly and treated appropriately.

Laboratory (blood and cerebrospinal fluid):

(3) Paraneoplastic disorders can often be identified by the clinical patterns of disease that they produce, measurement of specific autoantibodies, and uncovering the primary cancer; these disorders are often refractory to therapy, but some patients improve following removal of the tumor or immunotherapy.
(4) Malabsorption syndromes leading to vitamin E deficiency may lead to ataxia. The vitamin E deficiency form of Friedreich’s ataxia must be considered, and serum vitamin E levels measured. Vitamin E therapy is indicated for these rare patients. Vitamin B1 and B12 levels in serum should be measured, and the vitamins administered to patients having deficient levels.
(5) Ataxia with anti-gliadin antibodies and gluten-sensitive enteropathy may improve with a gluten-free diet.
(6) The cerebrospinal fluid should be tested for a syphilitic infection in patients with progressive ataxia and other features of tabes dorsalis. Similarly, antibody titers for Lyme disease and Legionella should be measured and appropriate antibiotic therapy should be instituted in antibody-positive patients.
(7) Aminoacidopathies, leukodystrophies, urea-cycle abnormalities, and mitochondrial encephalomyopathies may produce ataxia, and some dietary or metabolic therapies are available for these disorders. At present, identification of an at-risk person’s genotype, together with appropriate family and genetic counseling, can reduce the incidence of these cerebellar syndromes in future generations.