Athetoid Movements as Initial Manifestation of Primary Sjögren Syndrome.

Background: Primary Sjögren syndrome (pSS) is an autoimmune disorder characterized by exocrine gland and extraglandular symptoms. We present a case report of pSS with an initial presentation of athetoid movements. Case Report: A 74-year-old female presented with a 2-month history of slow undulating movements in her trunk and thighs that eventually spread to her neck and lower extremities. She also reported dry eyes, dry mouth, as well as pain in her shoulders and thighs. Her proinflammatory markers and rheumatologic profile were positive. Her salivary gland biopsy revealed a Focus score > 2. Brain magnetic resonance imaging was normal. A diagnosis of pSS was made. The patient's symptoms improved with hydroxychloroquine, pilocarpine, gabapentin, and clonazepam. Discussion: Clinicians should consider and screen for primary autoimmune disorders as a cause of subacute athetoid movements in elderly patients. Although aggressive treatment has been recommended, treatment should be tailored to each patient's specific needs.

Nitrous Oxide-induced Subacute Combined Degeneration Presenting with Dystonia and Pseudoathetosis: A Case Report.

PURPOSE: Nitrous oxide (N2O) is neurotoxic by interfering with vitamin B12 bioavailability. The clinical picture is indistinguishable to that of subacute combined degeneration (SCD). A movement disorder might occur though it is not a characteristic feature. We report a patient with N2O-induced SCD, exhibiting a combination of different involuntary movements. CASE REPORT: A 20-year-old woman presented with one month of progressive unsteady gait, involuntary movements and tingling sensation in a stocking-glove distribution. She had used N2O and ketamine intermittently for recreational purposes for about two years. Neurological examination demonstrated normal cranial nerve functions except for dystonia in the facial muscle and tongue. Her muscle strength was full, but there were bilateral hyperreflexia and extensor plantar response. She exhibited dystonia in four limbs with athetoid movement in fingers and toes, worsened by eye closure. Vibration and proprioception were impaired. Laboratory tests revealed anemia (Hb: 9.9 g/dl) with normal mean corpuscular volume (85.7 fL) and decreased iron level (22 µg/dl) while other results were normal including serum vitamin B12 level (626 pg/ml). Magnetic resonance imaging showed a hyperintense lesion from C1 to C6 level in the posterior column. She was diagnosed as having SCD caused by N2O abuse, presenting with generalized dystonia and pseudoathetosis. The involuntary movements disappeared with vitamin B12 supplementation. CONCLUSION: Movement disorders may be the rare manifestations of SCD associated with N2O abuse. Early recognition of the etiology is vital because it is treatable with vitamin B12 and methionine.

Hemichorea in a patient with HIV-associated central nervous system histoplasmosis.

Central nervous system histoplasmosis is a rare opportunistic infection with a heterogeneous clinical presentation. We describe the first case of human immunodeficiency virus-associated cerebral histoplasmosis presenting with hemichorea. The patient recovered after treatment with conventional amphotericin B and itraconazole.

Postthalamic stroke dystonic choreoathetosis responsive to tetrabenazine.

OBJECTIVE: To describe the case of a woman with poststroke choreoathetosis whose symptoms improved after treatment with tetrabenazine. CASE SUMMARY: A 48-year-old left-handed woman developed progressive involuntary dystonic choreoathetoid movements of her arm following a cerebrovascular event. Involuntary abnormal movements (IAMs) were treated with haloperidol, but they worsened 6 months later, also involving her mouth, tongue, and perioral area. Because of the suspected occurrence of drug-induced tardive dyskinesia, treatment was switched to tetrabenazine (titration up to 100 mg/daily), with rapid remission of the involuntary abnormal movements (Abnormal Involuntary Movement Scale score switching from 20 to 1). One month later, following discontinuation of tetrabenazine, the dystonic choreoathetoid movements rapidly reappeared. Subsequent rechallenge with tetrabenazine caused remission of her symptoms. DISCUSSION: Poststroke IAMs are rare, and lesions involving the basal ganglia and/or thalamus seem to be particularly implicated in such disorders. The exact pathogenic mechanism has not been clarified; however, it has been postulated that a central dopaminergic overactivity might play an important role in the IAM occurrence. Thus, antipsychotics are the main treatment option, but they are often associated with therapeutic failure or adverse effects, including extrapyramidal symptoms and metabolic complications. Interestingly, when our patient was treated with tetrabenazine for haloperidol-induced tardive dyskinesia, she demonstrated substantial improvement in the dystonic choreoathetoid movements of her left upper limb. CONCLUSIONS: The improved response of this case to tetrabenazine monotherapy suggests that tetrabenazine may be a pharmacologic alternative for patients with poststroke choreoathetosis that is intolerant or unresponsive to antipsychotic agents. Further studies are needed to better define the risk versus benefit profile of tetrabenazine.

[Athetosis in relation with intracranial tuberculomas in a patient from Burkina Faso]. / Mouvements anormaux chez un Burkinabé.

Athetosis is generally characterized by involuntary movements due to damage of the extrapyramidal tract secondary to neonatal cerebral anoxia or nuclear icterus. The purpose of this report is to describe the case of a 41-year-old man who was admitted to the neurology department of the Ouagadougou teaching hospital in Burkina Faso for right hemiathetosis in relation with intracranial tuberculomas ongoing for two years. Diagnosis was based on clinical findings, i.e., lymph node tuberculosis and positive HIV1 serology; on CT scans showing multiple low density nodular lesions of variable size with annular contrast at the level of the right cerebellum and calcification at the left parietal level and in projection of the left capsulolenticular area; and on favorable response to tuberculosis treatment.

Levetiracetam therapy for treatment of choreoathetosis in dyskinetic cerebral palsy.

Dyskinetic cerebral palsy (CP) is a movement disorder that is difficult to treat and which causes major disability. We report on two female patients (aged 5y and 8y) who experienced severe perinatal asphyxia and developed dyskinetic CP, clinically characterized by choreoathetosis. Neuropsychological testing of these children showed a low average developmental quotient and no attentional deficit. Monotherapy with levetiracetam was initiated to improve balance control and fine motor skills. Treatment was evaluated by use of video and the Visual Analog Scale. In both children an impressive improvement of balance control and fine motor skills was observed. No side effect occurred. Furthermore, both patients showed more interest and pleasure during activities according to their parents. In a recent multidisciplinary evaluation of the initiated therapy, the parents, the therapist, and the rehabilitation doctor all confirmed that the effect initially observed was still present at 14 and 26 months later. To our knowledge, this report on two patients with dyskinetic CP is the first suggesting that levetiracetam may offer an alternative to the standard therapy of involuntary, uncontrolled movements in this group of patients.

Severe long-standing dysimmune sensory neuronopathy responsive to etanercept.

Sensory neuronopathy in association with connective tissue disease is a disabling disorder for which there is no well-established therapy. Various immunosuppressive agents, plasmapheresis, and intravenous immunoglobulin have shown only anecdotal or modest beneficial effects. Tumor necrosis factor alpha is a proinflammatory cytokine that mediates TH1-cell inflammatory responses and is a plausible contributor to dorsal root ganglion injury in sensory neuronopathy. We describe a patient with severe painful and ataxic sensory neuronopathy in association with systemic lupus erythematosus, who showed marked and sustained improvement on etanercept, a tumor necrosis factor alpha inhibitor, despite a chronic and progressive course that was refractory to several immunomodulatory interventions. We review the therapeutic potential of tumor necrosis factor alpha blockade in immune-mediated neuropathies and the reported neurologic complications from its use, most notably central and peripheral demyelination.

Limited chronic focal encephalitis: another variant of Rasmussen syndrome?

OBJECTIVE: To describe a more limited and less malignant form of Rasmussen encephalitis (RE). METHODS: Three subjects (all women; 37, 31, and 32 years of age) developed childhood or late onset chronic focal encephalitis, with a relatively nonprogressive form of the disorder. RESULTS: In our patients, clinical features were dominated by partial seizures without marked focal motor deficit and in two with choreo-dystonic movements. The diagnosis of RE was supported by histologic examination and anatomic and functional MRI. CONCLUSIONS: These cases extend the phenotypic presentations of Rasmussen encephalitis and confirm Theodore Rasmussen's suggestion that there may be mild and nonprogressive forms of the disease.

[Chorea]. / Chorea.

Chorea (from the greek word "dance") is characterized by short, involuntary, irregular, nonrepetitive, adventitious muscular contractions. The resulting movements may occur abruptly at any part of the body, but may also spread from one body part to another. The most important condition showing chorea as its core symptom is Huntington's disease. It is inherited as an autosomal dominant trait. During its course it presents as an admixture of neurological and psychiatric features. Several rare neurodegenerative diseases and conditions of inborn errors of metabolism present with chorea mostly between childhood and adolescence. Among these, the paroxysmal choreoathetoses are important for the differential diagnosis of seizures and transitory ischaemic attacks later in life. In adults, symptomatic chorea may occur in many drug-induced, metabolic, infectious, immunological, toxic, and vascular conditions. In addition to the basic treatments of these illnesses there are selected drugs to provide satisfactory symptomatic relief from the abnormal movement.

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Little information is available on the long-term course and adult outcome of patients with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. We describe the course of a 32-year-old woman with hypotonia, dystonia, choreoathetosis, mental retardation, behavioral disturbances, and incomplete puberty due to PTPS deficiency. From the age of 6 months she developed progressive hypotonia and choreoathtetoid movements despite good control of hyperphenylalaninemia. Tetrahydrobiopterin deficiency was diagnosed at age 3 years. She had a dramatic response to L-dopa, which persisted at a stable dose for 29 years. Reducing the L-dopa dose led to severe axial hypotonia and limb dystonia, and increasing it led to florid abnormal movements and behavioral disorders. This report illustrates the role of dopamine modulation in motor, psychiatric, and endocrine functions.

Clinical manifestation and carbamazepine treatment of patients with paroxysmal kinesigenic choreoathetosis.

Paroxysmal kinesigenic choreoathetosis (PKC) is characterized by episodes of brief dystonia or choreoathetosis which is induced by sudden movement. We report the clinical manifestations and efficacy of treatment with carbamazepine in familial PKC. Seven patients from two families were diagnosed with PKC. The most common precipitating factors in our patients were sudden movement, anxiety and stress. The mean age of the first attack was around early puberty, and the symptoms became remarkable during early adulthood. Interictal single-photon emission computed tomography of the brain revealed abnormal perfusion of regional cerebral flow in either the basal ganglia or thalami in most of the patients. Four of seven patients were prescribed low dose of carbamazepine (1.5-2.0 mg/kg/day); the follow-up period ranged from 14 to 30 months. The patients who received carbamazepine treatment became attack-free without decline in school performance. The results suggest that the prognosis of PKC is a relatively benign entity due to spontaneous resolution since adulthood, and a low dose of carbamazepine is sufficient to manage PKC. Abnormal cerebral perfusion flow over the basal ganglia or thalami in these patients leads us to believe that PKC is a form of extrapyramidal disorder.

Oxcarbacepina en el tratamiento de la coreoatetosis paroxística cinesigénica / Oxcarbacepine in the treatment of kinesigenic paroxysmal choreoathetosis

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