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MRI
Patients with Huntington disease (HD) and
chorea-acanthocytosis show decreased signal in
the neostriatum, caudate, and putamen . No
significant difference has been observed
between these diseases. The decreased
neostriatal signal corresponds to increased iron
deposition.
Generalized atrophy, as well as focal
atrophy of the neostriatum, predominantly of
the caudate, with resulting enlargement of the
frontal horns, follows the initial findings of
decreased neostriatal signal
Medical Care
Endocrine
Hyperthyroidism
Chorea gravidarum
Hypoparathyroidism, pseudohypoparathyroidism
Immune/infectious
Behet disease
Other infections - Pertussis, diphtheria, varicella
Primary antiphospholipid antibody syndrome
Sydenham chorea
Systemic lupus erythematosus
Bacterial endocarditis
Herpes simplex encephalitis
HIV related
Infectious mononucleosis
Lyme disease
Mycoplasmal pneumonia
Viral meningoencephalitis (eg, mumps, measles, varicella)
Vascular
Arteriovenous malformation
Basal ganglia infarction or hemorrhage
Vasculopathies/vasculitis: Churg-Strauss syndrome[1] , moyamoya
Metabolic
Hypocalcemia
Hypoglycemia and hyperglycemia
Hypomagnesemia
Hyponatremia, hypernatremia, and central pontine myelinolysis
Renal failure
Miscellaneous
Cerebral palsy
Head trauma
Bronchopulmonary dysplasia (infantile chorea)
Cardiopulmonary bypass - "Postpump chorea
Neoplastic
Primary and metastatic brain tumors
Primary CNS lymphoma
Toxins CO, Mg, organophosphate
Pathophysiology and General Principles in
Treatment of Chorea
In some outbreaks, chorea has been present in more than 30% of patients
with acute RF.
Background
Willson and Preece noted that nearly 70% of their patients gave a
previous history of either rheumatic fever or chorea .
Of patients who present with chorea and no apparent
carditis, 20% may develop rheumatic heart disease after 20 years.
Interestingly, 50% of patients with oral contraceptive-
induced chorea have a past history of chorea, which in 41% of
cases is of rheumatic origin.
Background
is an incurable,
adult-onset,
autosomal dominant inherited disorder associated with
cell loss within a specific subset of neurons in the
basal ganglia and cortex.
HD is named after George Huntington, the physician who described it as
hereditary chorea in 1872.
Characteristic features of HD include
involuntary movements, dementia, and behavioral
changes.
Pathophysiology
International
The prevalence in most European countries ranges
from 1.63-9.95 per 100,000 people. The prevalence of
HD in Finland and Japan is less than 1 per 100,000
people.
Mortality/Morbidity
ferroxidase enzyme
Age-related presentations
Kayser-Fleischer rings
Approach Considerations
Abdominal imaging
Computed tomography (CT) scanning, magnetic resonance
imaging (MRI), ultrasonography, and nuclear medicine studies of
the liver have been uninformative, with findings neither specific
nor sensitive for Wilson disease.
Electrocardiography
Resting electrocardiographic abnormalities include left ventricular
or biventricular hypertrophy, early repolarization, ST segment
depression, T-wave inversion, and various arrhythmias.
Serum Ceruloplasmin
Penicillamine forms soluble complexes with metals excreted in urine. It was the drug of
choice before newer regimens were available. Because of extensive toxicities,
alternative agents are used. It must be administered with pyridoxine 25 mg by mouth
daily.
Trientine (Syprine)
Trientine is an effective oral chelator used to induce cupruresis. It is useful for patients
who cannot tolerate penicillamine. It is indicated in Wilson disease if the initial
presentation is hepatic. It should be administered with zinc
Zinc (Galzin)
Zinc is a cofactor for more than 70 types of enzymes. It is approved for patients
initially treated with a chelating agent. It should be used for maintenance after initial
chelation therapy. Zinc acetate is the drug of choice in presymptomatic, pregnant,
pediatric populations, and in some instance for maintenance in compliant patients who
have undergone copper chelation therapy
Generally, penicillamine is the first treatment used
In rare cases where none of the oral treatments are effective, especially in
severe neurological disease, dimercaprol (British anti-Lewisite) is
occasionally necessary. This treatment is injected intramuscularly (into a
muscle) every few weeks and has unpleasant side effects such as pain.[12]
People who are asymptomatic (for instance, those diagnosed through family
screening or only as a result of abnormal test results) are generally treated,
as the copper accumulation may cause long-term damage in the future. It
is unclear whether these people are best treated with penicillamine or zinc
acetate
Transplantation