Case of primary Sjogren's syndrome preceded by dystonia.

There are only six cases in literature that describe development of dystonia with Sjogren's syndrome (SS). We describe a case of a 43-year-old woman who presented with symptoms including movement disorder, sensory neurogenic bladder, sensory loss and neuropathic pain, migraine like headaches, musculoskeletal pain, Raynaud's phenomenon and dysautonomia. Symptoms started in 2000, with weakness that progressed to dystonia in 2003. Diagnostic work-up was inconclusive with negative inflammatory serologies, cerebrospinal fluid and MRI for many years. After patient developed sicca syndrome with dry eyes and mouth in 2009, her rheumatoid factor titre was elevated (550 IU/mL), erythrocyte sedimentation rate, anti-Sjogrens syndrome-related antigen A (anti-Ro/SSA) and anti-SSB/La: anti-Sjogrens syndrome-related antigen B (anti-La/SSB) became positive. Lip biopsy confirmed diagnosis of SS. She was diagnosed with primary SS with neurological involvement. Her symptoms responded well to intravenous methylprednisolone. Symptoms stabilised with trials of immune-suppressive therapy. This is a case that demonstrates the delay of diagnosing SS with preceding unique neurological association.

Penfigoide ampolloso tipo eritema multiforme / Erythema Multiforme-Like Bullous Pemphigoid

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[THE EFFECTIVENESS OF THE MODERN IMMUNOACTIVE PREPARATION IMMUNOFAN FOR MEDICAL REHABILITATION OF PATIENTS WITH NONALCOHOLIC STEATOHEPATITISIS AGAINST NEUROCIRCULATORY DYSTONIA, AFTER INFECTIOUS MONONUCLEOSIS].

The presence of the expressed changes of cellular immunity, namely T-lymphopenia, disbalance of subpopulation structure of T-lymphocytes with primary downstroke T-helpers/inductor (CD4+), decrease immunoregulatory index CD4/CD8, and functional activity of T-cells is characteristic for the patients with nonalcoholic steatohepatitis, against neurocirculatory dystonia, after infectious mononucleosis. Including in a medical rehabilitation of such patients immunofan promoted practically full correction of the revealed infringements on the part of a cellular link of immunity.

[THE INFLUENCE OF A COMBINATION OF MODERN DRUGS NUCLEINAT AND ALFAGIN ON THE CONCENTRATION OF CIRCULATING IMMUNE COMPLEXES AND THEIR MOLECULAR COMPOSITION IN THE SERUM OF PATIENTS WITH IRRITABLE BOWEL SYNDROME ON THE BACKGROUND OF NEUROCIRCULATORY DYSTONIA IN COMPLEX MEDICAL REHABILITATION].

The effect of the combination nucleinat and alfagin in a complex of medical rehabilitation at the level of circulating immune complexes (CIC) in serum of patients and their molecular composition with irritable bowel syndrome (IBS), against neurocirculatory dystonia (NeD). It is established that the combination of nucleinat and alfagin in medical rehabilitation of patients with this comorbid disorders contributes to the normalization of the total concentration of the CEC and their molecular composition, which indicates the validity of the application of the pathogenesis combinations of drugs in complex medical rehabilitation of patients with lBS against NCD.

A mutation in the IL-2 receptor gamma chain gene associated with X-linked severe combined immunodeficiency accompanying opisthotonus.

Severe combined immunodeficiency (SCID) is an inherited disease with profoundly defective T cells, B cells, and NK cells. X-linked severe combined immunodeficiency (X-SCID) is its most common form. In this report, we describe a 4-month old male with X-SCID who also showed opisthotonic posturing. Opisthotonus represents abnormal motor posturing and is defined as the posturing, in which the neck and back are arched posteriorly. The patient was referred to our hospital with liver dysfunction, respiratory distress, anal abscess, poor feeding and wasting; the patient appeared to suffer from severe and persistent infections. In fact, circulating T cells were not detectable, despite that the number of B cells was maintained in the normal ranges. Diagnosis of X-SCID was established by DNA analysis of the interleukin (IL)-2 receptor gamma chain gene; namely, we detected the novel mutation within exon 2 (221 C-->A), which leads to the substitution of tyrosine codon for stop codon (Y69stop). Computed tomography of the brain revealed mild atrophy, but no hemorrhage and no malformation. There were no pathological findings in the cerebrospinal fluid. Thus, the cause of opisthotonic posturing remains unknown. The patient died due to severe infection at the age of 7 months. It remains to be investigated to clarify the relationship between the mutation and clinical manifestations. In conclusion, we have identified the novel mutation in the IL-2 receptor gamma chain gene, which is associated with X-SCID. Furthermore, this is the first report that describes the patient with X-SCID accompanying opisthotonus.

Neutralizing antibodies in dystonic patients who still respond well to botulinum toxin type A.

BACKGROUND: Complete secondary therapy failure due to antibodies against botulinum toxin A (BoNT/A-ABs) may raise extensive treatment difficulties. We tested whether neutralizing BoNT/A-ABs can be detected in dystonic patients with good clinical responses to botulinum toxin A (BoNT/A) treatment. METHODS: We used the ninhydrin sweat test (NST) and the mouse diaphragm test (MDT) in 28 subjects. Of 119 dystonic patients who responded well to BoNT/A, we randomly selected 14 and compared the results of the NST and MDT with 14 healthy controls. RESULTS: Higher BoNT/A-AB titers correlated significantly with smaller anhidrotic areas. We found seven patients with borderline antibody (AB) values (MDT 0.4 to 0.8 mU/mL) with significantly smaller anhidrotic areas (NST) compared with healthy controls and AB-negative patients. Risk factors for smaller anhidrotic areas were short injection intervals but not prolonged exposure to BoNT/A or high injection doses. CONCLUSIONS: These data demonstrate that >40% of dystonic patients who respond well to botulinum toxin A (BoNT/A) show partial nonresponsiveness on the ninhydrin sweat test and have low titers of neutralizing BoNT/A antibodies.

Oculogyric dystonic reaction to escitalopram with features of anaphylaxis including response to epinephrine.

Dystonia-associated features of anaphylaxis, including tongue swelling, and chest and throat tightness, have been rarely reported with selective serotonin reuptake inhibitor (SSRI) use. The patient is a 44-year-old woman who presented with palpitations, diaphoresis, dyspnea, swelling of the lips and tongue, and fixed upward deviation of her right eye following inadvertent ingestion of 20 mg of escitalopram in addition to her usual 10-mg dose. She reported transient resolution of all symptoms after autoinjector aqueous epinephrine administration (0.3 mg), with recurrence of symptoms after 35 min. The patient presented with one prior episode of anaphylactic symptoms and dystonia. She also reported one episode with purely anaphylactic features of swelling of lips and tongue, difficulty breathing and syncope. This case represents a unique dose-dependent episode of escitalopram-associated oculogyric dystonia with anaphylactic features. The transient resolution of the associated features of dystonia with intramuscular epinephrine administration is unique and suggests a common pathophysiology of the dystonic and anaphylactic symptoms.

Long-term botulinum toxin efficacy, safety, and immunogenicity.

To determine the long-term efficacy of botulinum toxin (BTX) treatments, we analyzed longitudinal follow-up data on 45 patients (32 women; mean age, 68.8 years) currently followed in the Baylor College of Medicine Movement Disorders Clinic, who have received BTX treatments continuously for at least 12 years (mean 15.8 +/- 1.5 years). Their mean response rating after the last injection, based one a previously described scale 0-to-4 scale (0 = no effect; 4 = marked improvement) was 3.7 +/- 0.6 and the mean total duration of response was 15.4 +/- 3.4 weeks. Although the latency and total duration of the response to treatment have not changed over time, the peak duration of response (P < 0.005) and dose per visit (P < 0.0001) have increased since the initial visit. Furthermore, global rating (P < 0.02) and peak effect (P < 0.05) have improved. In total, 20 adverse events occurred in 16 of 45 (35.6%) patients after their initial visit and 11 adverse events in 10 of 45 (22.2%) patients at their most recent injection visit. Antibody (Ab) testing was carried out in 22 patients due to nonresponsiveness; blocking Abs were confirmed by the mouse protection assay in 4 of 22 (18%) patients. Of the Ab-negative patients, 16 resumed responsiveness after dose adjustments and 2 persisted as nonrespondents. Except for 1 patient, the 4 Ab-positive and the 2 clinical nonresponders are being treated with BTX-B. This longest reported follow-up of BTX injections confirms the long-term efficacy and safety of this treatment.

Anti-basal ganglia antibodies in patients with atypical dystonia and tics: a prospective study.

Anti-basal ganglia antibodies (ABGA) are associated with movement disorders in children, but have not been assessed in adult onset movement disorders. In a prospective assessment ABGA were positive in 65% of a group of 65 patients with atypical movement disorders, but were very rare in healthy adults and adults with idiopathic dystonia. An autoimmune mechanism may underlie a proportion of cases of atypical movement disorders.

[Antibody-induced failure of botulinum toxin therapy]. / Antikörpervermitteltes Versagen der Botulinum-Toxin-Therapie.

Botulinum toxin (BT) has been used with great success in a large number of medical specialities. In some patients, however, formation of antibodies against BT (BTAB), with therapy failure (ABTF) occurs. Risk factors for ABTF are the amount of BT given at each injection series and the duration of the intervals between injection series. Treatment time and cumulative BT dose as well as patient age and gender are not independent risk factors. BTAB titres drop spontaneously after cessation of BT therapy, but latencies are too long to be compatible with a clinically effective therapy. Once these titres have dropped, BT therapy can be restarted using improved parameters and improved BT preparations with lower antigenicity. Increasing the BT dosage can be successful for overcoming ABTF when BTAB titres are low and target muscle responses are only moderately reduced. The use of alternative BT type A preparations fails to overcome ABTF. Alternative BT types such as types B and F are initially successful in ABTF but stimulate the formation of antibodies against the alternative BT types after few applications. When type B is used, substantial systemic anticholinergic side effects can occur. Prevention of BTAB formation is of paramount importance. Risk factors for BTAB formation have to be taken into account when planning BT therapy. The most interesting perspective, however, seems to be the development of new BT preparations with improved specific potency and reduced antigenicity.

Paraneoplastic movement disorder in a patient with non-Hodgkin's lymphoma and CRMP-5 autoantibody.

The paraneoplastic autoantibody, collapsin response-mediator protein (CRMP)-5 immunoglobulin G (IgG), is specific for neuronal cytoplasmic CRMP-5, and is usually associated with small-cell lung carcinoma or thymoma. We report on details of a movement disorder that followed anti-B-cell therapy in a patient with lymphoma, and was accompanied by CRMP-5 IgG.

Post-streptococcal autoimmune neuropsychiatric disease presenting as paroxysmal dystonic choreoathetosis.

Paroxysmal dystonic choreoathetosis (PDC) is an episodic, non-kinesogenic, extrapyramidal movement disorder. It is postulated that PDC is an ion channel disorder. We describe a sporadic case of paroxysmal dystonic choreoathetosis occurring after streptococcal pharyngitis. The episodes were characterized by abrupt-onset dystonic posturing, choreoathetosis, visual hallucinations and behavioral disturbance. Each episode lasted between 10 minutes and 4 hours, and occurred up to 4 times per day. In between attacks, examination was normal. The episodes waxed and waned in frequency during a 6-month illness. Magnetic resonance imaging of the brain was normal. Post-streptococcal neuropsychiatric disease has a proposed autoimmune etiology, which is supported by the presence of serum antibasal ganglia antibodies. Western immunoblotting of this case's serum demonstrated antibody binding to a basal ganglia antigens of molecular weight 80 kDa and 95 kDa. Immunohistochemistry examination demonstrated specific antibody binding to large striatal neurones. We propose that autoantibodies produced in post-streptococcal neuropsychiatric disease cause alteration in neurotransmission, possibly secondary to ion channel binding.