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A 26-year-old man had gelastic seizures ("laughing attacks") preceded by an aura of sexual pleasure. They were reflexly induced by volitional hyperextension of his neck and trunk. His EEGs showed a right temporal spike focus. We discuss the characteristics of this unique case.
Two patients with Fisher's syndrome of ophthalmoplegia, ataxia, and areflexia experienced severe weakness and respiratory distress. Both patients required tracheostomy and assisted ventilation, but both made a complete recovery. Fisher's syndrome is generally considered to be a benign variant of acute infectious polyneuropathy (the Guillain-Barre syndrome). Our two patients demonstrate that the condition is not always benign.
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Among the hereditary affections of the nervous system associated with deafness, a rare condition called "progressive pontobulbar palsy with deafness" has been described. In this slowly progressive condition, hearing loss and vestibular are-flexia are almost always the first symptoms, occurring in late childhood or early adulthood. Only 18 cases-some sporadic, several familial-have been published without a full report of pathological findings. The clinical and pathological data of two new cases-one familial, one sporadic-are described here. There are differences from other forms of bulbar paralysis, lower motor neuron diseases, and some spinocerebellar hereditary affections. In view of the homochrony and homotypy in familial cases and the pathological findings, progressive pontobulbar palsy with deafness appears to be an abiotrophic process wih autosomal recessive inheritance.
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Eye movements in a patient with Fisher's syndrome were examined clinically and documented photographically when palsies were most severe and on repeated occasions during the recovery period. Two recordings of horizontal eye movements were made using the infrared reflection method. Particular attention was paid to signs indicating supranuclear eye movement disorders. We also reviewed cases in which signs suggesting brain-stem involvement were reported. Mild ptosis in the presence of severe ophthalmoplegia, preservation of Bell's phenomenon despite paralysis of voluntary upward gaze, conjugate palsies of vertical gaze, and horizontal dissociated nystagmus have been found relatively often. Convergence spasm was reported only once, however, and there were no prior reports of rebound nystagmus or vertical vestibulo-ocular reflex disorder.
The neurologic status of ten patients with osteogenesis imperfecta (OI) was evaluated. Four patients with mild OI (type I) had normal neurologic findings and normal computed tomographic scans. Three of these four patients had macrocephaly. All six patients with severe OI (type III) had cortical atrophy on computed tomographic scan and three were also macrocephalic.
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Four patients with botulism were studied on admission and at different times after intoxication, using a battery of cardiovascular autonomic tests. The results were compared with clinical status and single-fiber electromyographic findings. In the early stage of intoxication, the control of heart-rate and blood-pressure responsivity was markedly impaired, as was the neuromuscular transmission. At follow-up, results of sympathetic tests normalized earlier than those of parasympathetic tests. The recovery of autonomic function was slower than that of neuromuscular transmission in three patients. Monitoring autonomic derangement in botulism adds further information on the course of the disease and may identify patients at risk for cardiac or respiratory arrest. Further clinical investigation can help in determining more precisely the autonomic sites where the toxin acts.
OBJECTIVE: To compare the clinical course of an unusual case of Miller-Fisher syndrome in systemic lupus erythematosus with therapeutic interventions, in particular with plasma exchanges. DESIGN: The clinical state and laboratory and electrophysiologic parameters were controlled for over a year and related to therapeutic attempts with immunoglobulins, steroids, and plasma exchanges. SETTING: Medical intensive care unit of a university hospital. PATIENT: A 17-year-old black female student with known systemic lupus erythematosus who developed ataxia, are flexia, and ophthalmoplegia (Miller-Fisher syndrome) and later became tetraplegic and required full mechanical ventilatory support. RESULTS: High-dose immunoglobulin treatment combined with corticosteroid pulse therapy was not beneficial. However, plasma exchange (performed five times over a period of 4 months) was followed by a striking clinical improvement within hours after each plasma exchange. CONCLUSIONS: Plasma exchange appears to remove a yet unknown agent producing a distal motor nerve conduction block and is efficacious in severe neuropathy associated with Miller-Fisher syndrome in lupus erythematosus.
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BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia (ADCA) for which the disease-causing mutation has recently been characterized as an expanded CAG trinucleotide repeat. We investigated 64 families of German ancestry with ADCA and 55 patients with sporadic ataxia for the SCA2 mutation. RESULTS: Expanded alleles were found in 6 of the 64 families and in 1 patient with sporadic ataxia. This patient had a de novo mutation from an intermediate paternal allele. Length of repeats in 21 patients with SCA2 ranged from 36 to 52 CAG motifs and was inversely correlated with age at onset and progression of the disease. Expanded alleles were unstable during meiosis; paternal transmission especially caused significant anticipation of onset up to 26 years earlier. The SCA2 phenotype differed from those of SCA1 and SCA3 with higher frequencies of slowed ocular movements, postural and action tremor, myoclonus, and hyporeflexia. However, no single feature was sufficient to permit a specific clinical diagnosis. CONCLUSIONS: Spinocerebellar ataxia type 2 accounts for about 10% of German families with ADCA but may also be present in sporadic ataxia due to de novo mutations. Clinical features are highly variable among and even within families. However, the size of the expanded repeat influences the phenotype and is relevant for course and prognosis of the disease.
BACKGROUND: Neuromuscular disease is a common manifestation of human immunodeficiency virus infection and acquired immunodeficiency syndrome, but isolated and severe pathology confined to the motor roots or anterior horn cells are not a recognized clinical entity. OBJECTIVE: To describe the novel clinical presentation of human immunodeficiency virus-related polyradiculopathy manifesting as isolated severe motor symptoms confined to the legs. DESIGN: A case series comprising 4 patients identified prospectively during a 6-month period. SETTING: Patients were seen in the Department of Neurology, Groote Schuur Hospital, Cape Town, South Africa. This is an 800-bed teaching hospital, with approximately 5000 patients seen annually in the Department of Neurology. PATIENTS: Patients were identified by their unique presentation with a severe isolated motor neuropathy in the lower limbs. All were Xhosa-speaking African women. RESULT: Early human immunodeficiency virus infection may be associated with pure motor lumbosacral polyradiculopathy. CONCLUSION: It remains unclear whether this clinical syndrome should be regarded as a variant of the Guillain-Barre syndrome or whether it represents a unique disorder associated with early human immunodeficiency virus infection.
BACKGROUND: The mitochondrial DNA mutation A3302G in the tRNA(Leu(UUR)) gene causes respiratory chain complex I deficiency. The main clinical feature appears to be a progressive mitochondrial myopathy with proximal muscle weakness. OBJECTIVE: To report on clinical and molecular features in 4 novel patients with the A3302G mutation. DESIGN: Case reports. PATIENTS: Four patients (3 of whom are from the same family) with a myopathy caused by the A3302G mitochondrial DNA mutation. MAIN OUTCOME MEASURE: Identification of the A3302G mutation by DNA sequencing. RESULTS: All 4 patients had an adult-onset progressive mitochondrial myopathy with proximal muscle weakness, resulting in exercise intolerance. In 2 unrelated patients, upper limb reflexes were absent with preservation of at least some lower limb reflexes. Other features including hearing loss, recurrent headaches, ptosis, progressive external ophthalmoplegia, and depression were present. CONCLUSION: While the dominant clinical features of the A3302G mutation were exercise intolerance and proximal muscle weakness, other features of mitochondrial encephalomyopathies, previously not described for this mutation, were present.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.