Huntington disease is clinically characterized by progressive unintentional choreoathetoid movements, subcortical type dementia, behavioral changes, and psychosis which starts in midlife. On imaging, it is classically characterized by atrophy of the caudate nucleus with concomitant enlargement of the frontal horns of the lateral ventricles. Huntington disease has a prevalence of per , and is typically diagnosed between 30 and 50 years of age 3. Incidence is equal in both genders, although there appears to be an effect depending on the gender of the parent from whom the defect was inherited: if inherited from the father, presentation is earlier. The cause for this effect is as yet uncertain 3. In juvenile cases having inherited the disease from the father is far more common 3.
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Sydenham's chorea in a family with Huntington's disease: case report and review of the literature. Address for correspondence. It is more frequent in females and is rare in the first decade of life, and genetic vulnerability underlies it.
Because of easy access to antibiotics, it is now rare in so-called developed countries. CASE REPORT: A 6-year-old boy with a family history of Huntington's disease, who was the only child of an unscreened and asymptomatic mother, was brought for a consultation because of migratory arthralgia, depressed mood, and rapid, abrupt and unintentional movements of his right arm and leg, that had evolved over a three-week period.
Cardiovascular evaluation showed mild aortic insufficiency, moderate mitral insufficiency and a prolonged PR interval. This occurrence of rheumatic chorea in a family with Huntington's disease highlights the importance of the differential diagnosis for the different forms of chorea.
Key words: Chorea. Huntington disease. Rheumatic fever. Genetic counseling. Chorea is a manifestation in a large number of disorders, both acquired and inherited, including metabolic, infectious, inflammatory and neurodegenerative diseases.
Sydenham's chorea SC is the most common form of childhood chorea, while Huntington's disease HD accounts for the majority of adult-onset cases. The case of a six-year-old boy who was previously healthy, but had a family history of Huntington's disease five relatives affected, of whom two had the juvenile form of the disease is presented here.
His mother had not been screened but was asymptomatic. He was brought to the outpatient clinic of a tertiary-care hospital in Portugal because of migratory arthralgia without arthritis , asthenia, depressed mood and rapid, abrupt and unintentional movements of his right arm and leg leading to severe incapacity to eat and write. The symptoms had begun three weeks earlier and he had a history of febrile syndrome, which had occurred approximately one month before the onset of his symptoms.
He had not received any specific treatment and there was no history of drug use or medication allergies. The cardiac evaluation showed mild aortic insufficiency and moderate mitral insufficiency, and a prolonged PR interval.
Other tests performed presented normal results, including brain magnetic resonance imaging MRI , autoimmunity evaluation anticardiolipin antibodies, antinuclear antibodies and complement levels , viral serological tests human immunodeficiency virus, parvovirus B19, cytomegalovirus, Epstein-Barr virus and hepatitis C and B viruses , venereal disease research laboratory test VDRL , blood culture and thyroid function. The patient was treated with benzathine penicillin 1,, U , haloperidol 0.
He was discharged five days after the beginning of the treatment, with improved mood and better control over the choreic movements.
One month later, he was back to his baseline behavior and the choreic movements and hypotonia had practically disappeared.
Rheumatic fever RF is a nonsuppurative complication of group A beta-hemolytic streptococcal sore throat. Although rare in developed countries, RF is still present and should not be neglected. The incidence of this disease in the United States is approximately 0.
The female-to-male ratio is , with familial predisposition, and the age of presentation is usually between 5 and 15 years. The main features of SC are behavioral changes depression, anxiety, personality changes and emotional lability , hypotonia and purposeless movements that are aggravated by stress and absent during sleep. RF diagnosed before the age of 10 years may be very different, because younger children are more likely to present arthritis and carditis but less likely to present chorea.
The diagnosis of SC continues to be determined on clinical grounds, since no laboratory or imaging test can be considered to be confirmatory. Absence of a history or serological markers of prior streptococcal infection does not rule out the diagnosis of SC.
SC resolves spontaneously in three to six months and, because of this, treatment should be limited to patients with severe chorea. Chorea may be controlled using either dopaminergic blockers haloperidol or pimozide or anticonvulsants valproic acid and carbamazepine. Valproic acid has been recommended as the first-line treatment for SC. Secondary prophylaxis with intramuscular benzathine penicillin every four weeks is indicated after RF to prevent further damage to cardiac valves.
According to the American Heart Association, patients with RF without carditis should receive prophylactic antibiotics for five years or until aged 21; patients with RF with carditis but no valve disease should receive prophylactic antibiotics for 10 years or until 21 years of age; and patients with RF with persistent valve disease, as was the case of our patient, should receive prophylactic antibiotics ad infinitum or at least until 40 years of age. The risk of developing psychiatric illness in adulthood, namely obsessive-compulsive disorder, is still a matter of controversy.
However, other causes of chorea were considered in the differential diagnosis. First of all, other immune-mediated types of chorea, such as lupus chorea LC , were taken into consideration.
Another differential diagnosis to be considered is benign hereditary chorea BHC , an autosomal dominant disorder characterized by generalized choreic movements, which usually begins in early childhood. Its severity is variable, but this condition is non-progressive and tends to disappear during adolescence, and intellectual function is typically normal. Curiously, we were dealing with a family with a history of Huntington's disease HD.
As far as we know, this is the first case of rheumatic chorea in a family with Huntington's disease. We carried out a systematic analysis of the indexed articles published and we only found a few reviews concerning the two subjects and some case series of "chorea". There were no cases like ours published in the main databases Table 1. HD is an autosomal dominant disorder with complete penetrance but age dependence, and it usually begins in the fourth decade of life.
Some cases have been reported in young children, but the juvenile-onset form Westphal variant of chorea is usually rare and the typical presentation is a "Parkinson-like" syndrome, with rigidity, ataxia, seizures, cognitive decline and a tendency towards insanity and suicide. Even though a predictive genetic test is available, there is an international ethical consensus that considers that presymptomatic diagnosing of adult-onset disorders that do not have any preventive or curative treatment should only be requested or performed after obtaining fully informed consent and expression of will from capable individuals who are no longer minors.
Sydenham chorea: a case report and a review of the literature. Pediatr Emerg Care. Seminar on choreas. Lancet Neurol.
Rheumatic fever in children younger than 5 years: is the presentation different? Nelson textbook of pediatrics. Philadelphia: Saunders Elsevier; Spina GS. Stollerman GH. Rheumatic fever in the 21st century. Clin Infect Dis. Consensus guidelines on pediatric acute rheumatic fever and rheumatic heart disease. Indian Pediatr. Sydenham's chorea: clinical findings and comparison of the efficacies of sodium valproate and carbamazepine regimens.
Brain Dev. Treatment of acute Sydenham's chorea with methyl-prednisolone pulse-therapy. Parkinsonism Relat Disord. Bhidayasiri R, Truong DD. Chorea and related disorders. Postgrad Med J. Clinical characteristics of childhood-onset juvenile Huntington disease: report of 12 patients and review of the literature. J Child Neurol. Clinical presentation of juvenile Huntington disease. Arq Neuropsiquiatr. Toufexis M, Gieron-Korthals M. Early testing for Huntington disease in children: pros and cons.
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Huntington's disease
Huntington's disease HD , also known as Huntington's chorea , is an inherited disorder that results in the death of brain cells. There is no cure for HD. The first likely description of the disease was in by American physician Charles Oscar Waters. The most characteristic initial physical symptoms are jerky, random, and uncontrollable movements called chorea. Common consequences are physical instability, abnormal facial expression, and difficulties chewing, swallowing , and speaking.
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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Huntington disease HD is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
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Non-choreic movement disorders as initial manifestations of Huntington's disease. Nilson Becker I ; Renato P. Teive I. We describe seven patients with genetically confirmed Huntington's disease HD who had non-choreic movement disorders as presenting symptoms or signs. Patients with movement disorders other than chorea in the early stages tended to have larger CAG trinucleotide repeat expansion in comparison with more "typical" HD patients.