Non-motor symptoms and quality of life in dopa-responsive dystonia patients.

BACKGROUND: In patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD) the occurrence of associated non-motor symptoms (NMS) is to be expected. Earlier studies report conflicting results with regard to the nature and severity of NMS. The aim of our study was to investigate the prevalence of psychiatric disorders, sleep problems, fatigue and health-related quality of life (HR-QoL) in a Dutch DRD cohort. METHODS: Clinical characteristics, motor symptoms, type and severity of psychiatric co-morbidity, sleep problems, fatigue and HR-QoL were assessed in DRD patients with a confirmed GCH1 mutation and matched controls. RESULTS: Twenty-eight patients were included (18 adults and 10 children), from 10 families. Dystonia symptoms were well-controlled in all patients. According to the DSM IV patients significantly more often met the criteria for a lifetime psychiatric disorder than controls (61% vs. 29%, p < 0.05). In particular the frequencies of generalized anxiety and agoraphobia were higher in patients (both 29% vs. 4%, p < 0.05). Patients scored significantly higher on daytime sleepiness than controls (ESS, 11.2 vs 5.7, p < 0.05). Adult patients had significantly lower scores on the mental component of the HR-QoL (47 vs. 54, p < 0.05) than controls mainly associated with (worse) quality of sleep. CONCLUSION: NMS were highly prevalent in our cohort of DRD patients, despite adequate treatment of motor symptoms. Our findings support the accumulating evidence of an important non-motor phenotype in DRD, with possible involvement of serotonergic mechanisms. This highlights the need to address NMS and the underlying neurobiology in patients with DRD.

Spectral EMG Changes in Cervical Dystonia Patients and the Influence of Botulinum Toxin Treatment.

Botulinum toxin (BoNT) injections in the dystonic muscles is the preferred treatment for Cervical Dystonia (CD), but the proper identification of the dystonic muscles remains a challenge. Previous studies showed decreased 8-14 Hz autospectral power in the electromyography (EMG) of splenius muscles in CD patients. Cumulative distribution functions (CDF's) of dystonic muscles showed increased CDF10 values, representing increased autospectral powers between 3 and 10 Hz, relative to power between 3 and 32 Hz. In this study, we evaluated both methods and investigated the effects of botulinum toxin. Intramuscular EMG recordings were obtained from the splenius, semispinalis, and sternocleidomastoid muscles during standardized isometric tasks in 4 BoNT-naïve CD patients, 12 BoNT-treated patients, and 8 healthy controls. BoNT-treated patients were measured 4-7 weeks after their last BoNT injections and again after 11-15 weeks. We found significantly decreased 8-14 Hz autospectral power in splenius muscles, but not in the semispinalis and sternocleidomastoid muscles of CD patients when compared to healthy controls. CDF10 analysis was superior in demonstrating subtle autospectral changes, and showed increased CDF10 values in all studied muscles of CD patients. These results did not change significantly after BoNT injections. Further studies are needed to investigate the origin of these autospectral changes in dystonia patients, and to assess their potential in muscle selection for BoNT treatment.

EMG coherence and spectral analysis in cervical dystonia: discriminative tools to identify dystonic muscles?

OBJECTIVE: Botulinum toxin injections in the dystonic muscles are the preferred treatment for cervical dystonia (CD), but proper selection of the dystonic muscles remains a challenge. We investigated the use of EMG coherence and autospectral analysis as discriminative tools to identify dystonic muscles in CD patients. METHODS: We compared the occurrence of 8-14 Hz autospectral peaks and 4-7 Hz intermuscular coherences between 10 CD patients and 10 healthy controls. Secondly, we compared the muscles with significant 4-7 Hz coherences with the muscles that were selected clinically for botulinum toxin treatment. RESULTS: Autospectral peaks between 8 and 14 Hz were significantly more often absent in the splenius capitis (SPL) muscles of CD patients compared to controls (p<0.01). Contrary to previous findings, there was no significant difference in the occurrence of 4-7 Hz intermuscular coherences between patients and controls and the diagnostic accuracy of coherence analysis to identify the clinically dystonic muscles was low. CONCLUSION: Intermuscular EMG coherence analysis cannot reliably discriminate patients from controls. Autospectral changes in the SPL muscles are a more discriminative feature of CD. In patients, coherence analysis does not seem to be a reliable method to identify dystonic muscles. The clinical relevance and the origin of the autospectral changes need further study.

Muscle selection for treatment of cervical dystonia with botulinum toxin--a systematic review.

RATIONALE: Cervical dystonia, also called spasmodic torticollis, is the most common form of (primary) dystonia. Intramuscular injections with botulinum toxin are the first line of treatment for cervical dystonia. To optimise the treatment response to botulinum toxin correct muscles should be selected. Clinical evaluation is important for muscle selection but the value of additional tests to identify dystonic muscles remains unclear. OBJECTIVE: To evaluate all relevant literature regarding the best approach to select dystonic muscles for treatment with botulinum toxin. METHODS: We conducted a systematic review of studies that had investigated methods of selecting muscles for treatment with botulinum toxin. In addition, we compared all prospective botulinum toxin trials using either clinical evaluation or polymyographic electromyography for muscle selection. RESULTS: Forty relevant studies were included and polymyographic electromyography recordings were most often employed. In several studies, polymyographic electromyography revealed a different pattern of muscle involvement compared to that found during clinical evaluation. In one randomized controlled trial polymyographic electromyography significantly improved the outcome of botulinum toxin treatment. A limited number of studies used positron emission tomography -computed tomography imaging or frequency analysis of the electromyography signal to identify dystonic muscles but their effect on the outcome of treatment has never been studied. CONCLUSION: Polymyographic electromyography may improve the outcome of botulinum toxin treatment in cervical dystonia, but evidence is limited and larger studies are needed.

[Diagnostic image (54). Sinus thrombosis and hemorrhagic infarction in puerperium ]. / Diagnose in beeld (54). Sinustrombose en hemorragische infarcering in het kraambed ('kraamhoofd').

A 28-year-old woman developed puerperal sinus sagittalis superior thrombosis that caused hemorrhagic cerebral infarction and death by cerebral herniation.

[Clinical thinking and decision making in practice. A nurse with acute pain between shoulder blades]. / Klinisch denken en beslissen in de praktijk. Een verpleegkundige met acute pijn tussen haar schouderbladen.

A 50-year-old female nurse with an unremarkable medical history experienced acute midthoracic pain, irradiating to the chest and increasing during inspiration. Initial physical examination, laboratory tests, chest X-ray and electrocardiography all were normal. Pulmonary scintigraphy could not be performed in the early stage after admission. The clinical diagnosis of probable pulmonary embolism was made, and anticoagulant therapy was started. The following day, the patient gradually developed a spinal cord syndrome, eventually including paraplegia, bladder dysfunction and an incomplete sensory deficit with an upper level at the 5th thoracic dermatome, predominantly affecting temperature and pain sensation. Magnetic resonance imaging revealed a large anterior spinal epidural haematoma, extending from C7 down to T8. Urgent decompressive laminectomy and subsequent partial evacuation of the haematoma were performed, approximately 24 hours after the onset of neurological signs. No bleeding source was found during operation. The patient made a remarkable postoperative recovery.

Transitory spinal cord swelling in a 6-year-old boy with Guillain-Barré syndrome.

A 6-year-old boy developed progressive motor weakness and areflexia. The clinical picture, combined with electrophysiological findings, indicated a diagnosis of Guillain-Barré syndrome (GBS). MRI on admission revealed spinal cord swelling and increased signal intensity within the cord. It is concluded that, since a degree of central nervous system involvement can occasionally be part of the spectrum of GBS, swelling of the spinal cord without contrast enhancement does not exclude a diagnosis of GBS.

[Seroprevalence of human T-cell lymphotropic virus type I in Curaçao and predictive variables for that infection]. / Seroprevalentie van humaan T-cellymfotroop virus type I op Curaçao en voorspellende variabelen voor die infectie.

OBJECTIVE: To determine the seroprevalence of human T-cell leukaemia virus (HTLV) type I and predictive variables in Curaçao. DESIGN: Descriptive. SETTING: St. Elisabeth Hospital, Curaçao. METHODS: A total of 2531 sera were randomly collected from a total population of approximately 145,000 over a period of three months (of seven the sex was not known). An initial ELISA test was performed to detect anti-HTLV-I antibodies. If this test was positive an ELISA re-test (in duplicate) was performed. If one of these re-tests was found positive a western blot confirmation test was performed. The association with age, sex, social class and history of syphilis were analysed with multiple logistic regression models and adjusted for confounding. RESULTS: The estimated prevalence of HTLV-I was 1.9% (49/2524). No significant sex differences were observed (odds ratio (OR): 1.13; 95% confidence interval (95% CI): 0.62-2.05). Increasing age (p for trend = 0.0003) and lower social class (OR: 1.86; 95% CI: 1.03-3.38) were important predictive factors for HTLV-I infection. Members of the lower social classes and persons 50 years or older were at relatively high risk (OR: 3.91; 95% CI: 2.21-6.94). CONCLUSION: HTLV-I infection is endemic in the island of Curaçao, as in other Caribbean islands. The estimated prevalence is 1.9%. Age and lower social class were important predictive factors for HTLV-I infection.

Hemidystonia as presenting symptom of an optic glioma.

The first case is presented of an exophytic chiasmatic-hypothalamic glioma causing progressive hemidystonia in an 8-year-old boy, and all 24 reported cases of intraaxial cerebral tumours resulting in symptomatic hemidystonia are reviewed.

Cerebral arteriovenous malformations in The Netherlands Antilles. High prevalence of hereditary hemorrhagic telangiectasia-related single and multiple cerebral arteriovenous malformations.

Seventeen patients with symptomatic cerebral arteriovenous malformations (AVMs) were diagnosed between 1980 and 1990 in the Leeward Islands of the Netherlands Antilles. Five patients had multiple AVMs. The annual incidence of symptomatic AVMs was 1.1/100,000. The mean age of presentation was 35 years. In 6 patients cerebral AVMs were associated with hereditary hemorrhagic telangiectasia (HHT); 4 of these patients had multiple AVMs. We conclude that HHT is frequently encountered in Netherlands Antillians with symptomatic and multiple cerebral AVMs.

Longstanding isolated cerebral systemic lupus erythematosus in an 8-year-old black girl. Resemblance with multiple sclerosis.

We describe a 12-year-old girl with SLE who presented with longstanding isolated neurological symptoms resembling MS. The literature concerning the difficulties in diagnostic procedures in cerebral SLE are reviewed in comparison to MS.

[Tardive dystonia]. / Tardieve dystonie.

Two patients with tardive dystonia are presented. Tardive dystonia is a late-onset side effect of dopamine antagonist, which occurs in approximately 2% of the patients in the course of treatment with neuroleptic medication. The dystonia usually starts by affecting the musculature of face and (or) neck and is often progressive to a segmental localization. Of differential diagnostic importance are: conversion disorder, acute dystonia, Wilson's disease, idiopathic dystonia and dystonia triggered by other agents. Treatment starts with reevaluation of the need for ongoing neuroleptic treatment. Investigation of the pharmacotherapy of the dystonia concerns mostly treatment with dopamine depletors or with high doses of anticholinergic agents. Improvement of 50% of the patients is reported, although total recovery is rare. Many other substances and also some physical methods (ECT and surgery) have been used with varying results.

[Cerebral hemorrhages and infarcts following use of cocaine]. / Hersenbloedingen en -infarcten na gebruik van cocaïne.

With increasing abuse of cocaine and purity of this drug, the incidence of strokes in relatively young people is also increasing. We describe two patients, one 29 years, the other one 33 years old. Both were well-known cocaine users. The first patient presented with an intracranial haemorrhage; the computed tomography of the brain is shown. The second patient showed a cerebral ischaemic infarction. The most frequent vascular complications are described. The physiological backgrounds of cerebrovascular accidents are given. Use of cocaine can be suggested by the presence of benzoylecgonine in urine samples.

Low-dose bromocriptine therapy in Parkinson's disease: double-blind, placebo-controlled study.

Twenty-one de novo parkinsonian patients in stage I to III of the Hoehn and Yahr scale completed a 6-month, double-blind, placebo-controlled study. Low-dose bromocriptine (15 mg daily) was effective. Rigidity improved more than tremor or bradykinesia. Sustained satisfactory benefit was seen only in patients with mild Parkinson's disease.