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A patient is described who suffered from intermittent spasms of the pupillary sphincter and ciliary muscle. Both intraocular muscles contracted several times a minute, producing sporadic darkening of vision in the affected eye. The spasms continued for eleven days, so it was possible to document them pupillographically. This curious phenomenon seems to have been the result of a transient "irritability" of the ciliary ganglion.
We report 2 families with X-linked infantile spasms syndrome (X-linked West syndrome). Data from clinical examination, biochemical analysis, neuroimaging, and neuropathology are discussed. In these families, genetic linkage analysis was able to locate the disease gene to the distal part of the short arm of the X chromosome, between Xpter and Xp11.4. This is the first report of linkage with genetic markers in this disorder. Although most cases are sporadic, further unraveling of the genetic background of the familial cases might greatly improve our understanding of infantile spasms.
This is a report of a case in which a 5F high-flow right coronary catheter with its guide wire was entrapped within the inferior vena cava following a venous spasm. Local infusion of nitroglycerin (NTG) relieved the spasm, and the guidewire-catheter assembly could be safely retrieved.
We present the clinical history of a woman with idiopathic episodic focal lingual dystonic spasms. Although dystonic spasms of the tongue have been reported as a primary persistent phenomenon and as a feature of secondary dystonias, primary episodic lingual dystonias are rare, tend to be unilateral, and in contrast to most other paroxysmal movement disorders, do not appear responsive to anti-epileptic drugs.
Hemimasticatory spasm (HMS) is a condition characterized by paroxysmal involuntary contraction of masticatory muscles. We performed an electrophysiological investigation of a single patient with HMS to identify any pathophysiological changes associated with the condition. We identified a delayed M wave and jaw jerk on the affected side and an absent masseteric silent period during spasm. Botulinum toxin injections successfully treated the clinical symptoms and resulted in a significant reduction in the excitability of the blink reflex recovery cycle. These data suggest that HMS may be due to ectopic activity in the motor portion of the trigeminal nerve that is capable of inducing changes in the excitability of central reflex pathways. These changes can be altered by successful treatment with botulinum toxin.
We present a patient with a facial movement disorder that has characteristics of both blepharospasm and bilateral asynchronous hemifacial spasm. Because of the increased incidence of blepharospasm in patients with hemifacial spasm, our patient's clinical presentation is probably not a chance occurrence, but rather a manifestation of some predisposition for these two movement disorders. This unusual constellation of signs and symptoms challenges the current diagnostic criteria and suggests that some of these facial movement disorders may lie on a spectrum, rather than represent distinct entities.
Medical treatment of dystonia usually results in an incomplete response and is frequently unsuccessful. Peripheral surgical therapy is available for some focal dystonias, but may only offer temporary relief and may have unacceptable complications. We have used local injections of botulinum toxin into the appropriate muscles for treatment of disabling focal or segmental dystonia in 93 patients with torticollis, blepharospasm, oromandibular dystonia (OMD), limb dystonia, lingual dystonia, and dystonia adductor dysphonia, in addition to four patients with hemifacial spasm. Significant relief of motor symptoms was seen in 69% of the patients with blepharospasm and 64% of patients with torticollis; 74% of the latter group with pain experience relief. Relief of symptoms was noted in most patients with OMD and limb dystonia, and all with lingual dystonia, dystonic adductor spastic dysphonia, and those with hemifacial spasm. Benefit averaged 2 1/2-3 months initially; however some patients experienced longer relief with subsequent injections. Adverse effects were transient, although 2 patients developed antibodies against the toxin, and we documented evidence for distant effects in others. This approach of chemically weakening contracting muscles in focal dystonia offers many advantages over pharmacotherapy and surgical therapy. Additional experience is needed to explore the proper doses, and potential for long term adverse effects.
Four cases of hemifacial spasm (HFS) are reported. The spasm followed a few months after injury to a peripheral branch of the seventh nerve. An EMG examination of facial muscles disclosed the typical finding of HFS: spontaneous activity, paradoxical cocontraction, and diffusion of spontaneous or provoked blinking. A nuclear involvement, secondary to the nerve lesion, is the most likely pathophysiological explanation for similar cases in HFS.
Significant improvement in symptoms of disabling cramps and muscle spasms was obtained in 9 patients with motor neuron diseases, tetany, and myotonic disorders who were treated with tocainide, a lidocaine analog. No significant side effects were observed except for light-headedness and fatigue in 1 patient, who also showed slight prolongation of intraventricular conduction time. Tocainide is useful in treating disabling muscle spasms and cramps associated with conditions characterized by neuromuscular irritability. This effect is probably based on stabilization of the membrane potential at various levels (motor neurons, peripheral nerve, or muscle fiber membrane).
The effectiveness of botulinum toxin injections in 11 patients with hemifacial spasm was investigated in a prospective placebo-controlled blinded study. The patients were treated with four sets of injections to various facial muscles, selected by clinical evaluation. Three injections were with graded doses of toxin and one was with placebo. The order of injections was random and unknown to the patients. Results were scored both subjectively by patient assessment of symptoms and objectively by blinded review of videotapes made one month after each injection. Subjective improvement occurred after 79% of injections with botulinum toxin, regardless of dose of toxin. Only 1 patient improved after placebo. Objective improvement was seen after 84% of injections with botulinum toxin. No patient showed objective improvement after placebo injection. The most frequent side effect was facial weakness, seen after 97% of injections of botulinum toxin. Facial bruising (20%), diplopia (13%), ptosis (7%), and various other mild side effects were seen less frequently. Botulinum toxin appears to be an effective and safe method of therapy for hemifacial spasm.
The facial nerve was stimulated trascranially with a magnetic stimulator in 14 normal controls, 14 hemifacial spasm patients, and 16 post-facial-palsy synkinesis patients. Magnetic stimulation in normal controls revealed muscle responses which had latencies with a mean value of 4.99 +/- 0.49 ms and amplitudes of 2.41 +/- 1.08 mV. In the same group, transosseal conduction time was calculated to be 1.20 +/- 0.13 ms. In the hemifacial spasm group, the amplitudes of the responses on the affected sides were lower as compared to the unaffected sides (mean values 1.78 vs. 2.41 mV, P = 0.01). Also, the threshold to magnetic stimulation was elevated on the affected sides. These findings are suggestive of the presence of a hypoexcitability to magnetic stimulation in the root entry zone. In the post-facial-palsy synkinesis patients, magnetic stimulation of the affected sides resulted in responses with long latencies and low amplitudes (mean latency 6.34 ms, mean amplitude 0.90 mV). In the recordings made with magnetic stimulation, the difference of the latencies between the two sides was larger as compared to those obtained by electrical stimulation. The transosseal conduction time was also remarkably prolonged on the affected side. These findings may suggest that magnetic stimulation can be an effective method of showing intracranially located lesions of the facial nerve.
This is a longitudinal study of facial expression of affect in 28 children with intractable infantile spasms who underwent epilepsy surgery. After a mean follow-up period of 1.8 years, there was a significant increase in positive affect, a significant decrease in neutral affect, and no change in negative affect during a nonverbal communication paradigm. These findings were unrelated to surgical (i. e., side of surgery, type of surgery) or seizure-related variables (i.e., seizure control, age at onset of illness, duration of illness, change in antiepileptic drugs). Comparison of affect in a subgroup of 16 patients with those of 32 normal subjects suggest a normal age-related increase in the use of positive affect. Both before and after surgery, the patients used the most positive affect while not communicating. They also used significantly more positive affect during while requesting objects or assistance rather than during social referencing. Intractable infantile spasms might be associated with reduction in the facial expression of positive affect and with impaired use during social communication.
The authors present their first results with the treatment of hemifacial spasm by controlled percutaneous thermocoagulation of the facial nerve. Seven patients have been treated to date with good immediate results on the movements, although a slight paresis of the homolateral facial musculature, aesthetically acceptable, persists after treatment. A long-term follow-up at more than 10 months was achieved in only 3 patients, who showed a complete regression of the spasm with partial disappearance of the facial hemiparesis.
Hemifacial spasm in a 10-year-old child is herein reported. Computed tomography and angiography were normal. Magnetic resonance imaging showed an anomalous vascular structure, probably a redundant loop arising from AICA or PICA, which was identified at surgery. The spasm, presumably due to vascular compression at the root entry zone of the right facial nerve, promptly and completely remitted after surgical decompression, without functional deficits. Atypical clinical features, as well as pre- and postoperative neurophysiological findings supporting the microvascular compression theory, are discussed.
We present a unique case of infantile spasm in a patient with multiple pineal cysts associated with an ependymal cyst. Such a morphological etiology, to our knowledge, has not been described for patients with infantile spasm. Although postoperative neuroradiological studies demonstrated satisfactory surgical results, the patient continued to have seizures.
Extensive surgical resections of neocortical cerebral tissue (including hemispherectomies) from 13 infants and children with infantile spasms showed that 12 of 13 specimens contained either malformative and dysplastic lesions of the cortex and white matter (sometimes with associated hamartomatous proliferation of globular cells), or destructive lesions possibly acquired as a result of anoxic-ischemic injury, or a combination of the two. In brain tissue from 4 patients, coarse neuronal cytoplasmic fibrils resembling neurofibrillary tangles were seen in areas of dysplastic brain on silver-stained (Bielschowsky technique) sections. Immunohistochemical (immunoperoxidase) study of cortical lesions containing globular cells employing primary antibodies to glial fibrillary acidic protein and synaptophysin as markers of astrocytic and neuronal differentiation, respectively, revealed that many cells showed astrocytic and/or neuronal features, suggesting the local proliferation of primitive or multipotential neuroectodermal cells as one substrate for this seizure disorder. Morphological abnormalities of a severe degree and wide extent in the resected tissue (e.g., in one patient with hemimegalencephaly) often showed features to suggest that they may represent variants of tuberous sclerosis. These most likely result from abnormal movement and/or local proliferation of neuroectodermal precursors that have migrated from the germinal matrix to the cortical mantle. Cellular, molecular and neurophysiological study of these abnormalities is likely to yield information about basic molecular mechanisms of brain malformation and injury important in the pathogenesis of infantile spasms and other forms of focal or generalized epilepsy.
We report a 3-month-old female with infantile spasms that responded transiently to pyridoxine and permanently to oral L-dopa. Initial CSF levels of homovanillic acid were low, suggesting disturbed turnover of dopamine. These findings suggest that disturbed brain monoamine metabolism may be causally related to infantile spasms.
We prospectively studied 30 patients to assess the usefulness of three-dimensional (3D) contrast-enhanced MRI in patients with hemifacial spasm. In all patients neurovascular compression of the facial nerve could be detected. Microvascular decompression was performed in 14, and vascular compression of the root exit zone of the facial nerve and the offending artery were exactly as predicted by MRI in all but 2. We also retrospectively studied whether the symptomatic side could be defined only by enhanced 3D MRI in 55 randomised individuals (30 with and 25 without hemifacial spasm). All symptomatic sides were correctly identified, and the false-positive rate was 13.8%.