False-Positive Serum Botulism Bioassay in Miller-Fisher Syndrome.

We describe a patient with acute progressive weakness and areflexia. Both botulism and Miller-Fisher variant of Guillain-Barré syndrome were initial diagnostic considerations, and she was treated with intravenous immunoglobulin and botulinum antitoxin. A mouse bioassay was positive for botulinum toxin A, although her clinical course, electrodiagnostic studies, and cerebrospinal fluid findings supported Miller-Fisher syndrome. This patient's atypical features offer points of discussion regarding the evaluation of patients with acute neuromuscular weakness and emphasize the limitations of the botulism bioassay.

Contraction induced h reflexes in the diagnosis of cervical radiculopathy.

PURPOSE: To determine whether Contraction Induced H Reflexes (CIHR) can accurately detect cervical radiculopathy. METHODS: Comparison of CIHR results with Needle Electromyography at academic outpatient Electromyography/Nerve Conduction laboratories. Participants were all patients over 18 with a needle electromyography diagnosis of cervical radiculopathy. Patients were tested for CIHR in at least two upper extremity muscles in electromyographically proven myotomes bilaterally. Patients were requested to perform a moderate contraction while stimulus was applied proximally (elbow or Erb's point). Outcome measures included H Reflex onset latency and side-to-side latency differences. These were compared against previously established normal values. RESULTS: Overall, 10 of 15 patients who met criteria for cervical radiculopathy showed CIHR abnormalities (sensitivity = 67%; 95% confidence interval, 43-91). Counting each side and level separately, CIHR identified 16/27 radiculopathies (sensitivity = 59.2%; 95% confidence interval, 40.6-77.8). Contraction Induced H Reflexes identified 1 possible radiculopathy not seen on electromyography (specificity = 98%; 95% confidence interval, 95-100). CONCLUSIONS: Contraction induced H Reflexes have a sensitivity and specificity for cervical radiculopathy similar to the resting Gastroc-Soleus H Reflex.

Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P).

Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) is a rare disorder inherited in an autosomal dominant fashion. Patients present with slowly progressive proximal-predominant weakness, painful muscle cramps, fasciculations, large-fiber sensory loss, and areflexia. Electrodiagnostic (EDX) studies typically reveal abnormalities consistent with a sensorimotor neuronopathy. A patient with HMSN-P underwent EDX studies, revealing ongoing and chronic neurogenic denervation, motor unit instability, and neuromyotonic discharges, further defining the spectrum of EDX findings in HMSN-P. The clinical, pathological, and genetic features are also reviewed. The appearance of HMSN-P in the United States and elsewhere calls for clinicians in nonendemic regions to be familiar with this rare disorder, which has typically been geographically confined.

Postpartum paraparesis from spinal neurofibroma.

BACKGROUND CONTEXT: One hallmark of neurofibromatosis Type 1 (NF1) is the presence of multiple neurofibromas, which are hormonally responsive and may undergo rapid growth during periods of hormonal surge. Although spinal neurofibromas occur in up to 40% of patients with NF1, they rarely cause neurologic sequelae, especially in the young. PURPOSE: To document a unique case of acute postpartum paraparesis in a young woman because of an extradural neurofibroma compressing the conus medullaris and discuss the possible hormonal influences related to rapid growth of this otherwise "benign" nerve sheath tumor. This case demonstrates the importance of closely monitoring patients with known NF1 for neurologic symptoms, especially during pregnancy and the postpartum period. We also seek to describe the management of this patient, which resulted in an excellent outcome. STUDY DESIGN: Case report and literature review. METHODS: Detailed history was obtained from the patient and her family members. All medical records, imaging studies, histopathological findings, and pertinent literature were reviewed. RESULTS: After evaluating a 26-year-old postpartum woman with NF1 for paraparesis, magnetic resonance imaging of the lumbar spine revealed a large heterogeneously enhancing mass at the conus medullaris. She subsequently underwent resection of the mass via laminectomy. Postoperatively, the patient exhibited marked improvement in weakness and was able to ambulate with assistance 2 days later. Histopathological examination of the mass revealed a neurofibroma with strong expression of estrogen and progesterone receptors. CONCLUSIONS: This patient had a spinal neurofibroma, which likely grew in size within the peripartum period, causing a neurologic emergency. The rapid growth of the neurofibroma may have been the result of hormonal influence of estrogen or progesterone or both. To the best of our knowledge, rapid paraparesis caused by a spinal neurofibroma has never been reported in a peripartum setting. Laminectomy with complete tumor resection is the preferred treatment for spinal neurofibromas causing acute neurologic symptoms.

Validating an Ataxia Functional Composite Scale in spinocerebellar ataxia.

The Ataxia Functional Composite Scale (AFCS) may provide a sensitive and reproducible assessment of treatment responses in studies of the spinocerebellar ataxias (SCA). We previously assessed the effects of buspirone in a cohort of patients with SCA via the International Cooperative Ataxia Rating Scale (ICARS). At each assessment period, AFCS scores were also obtained. A strong correlation of AFCS with ICARS scores was demonstrated at all assessment periods. This study supports the validity of the AFCS as a useful assessment of ataxia in this population.

Treatment of spinocerebellar ataxia with buspirone.

Preliminary data suggest potential benefit of 5-HT receptor agonists in the treatment of ataxias. We studied the effects of buspirone in a cohort of twenty patients with spinocerebellar ataxia (SCA). Twenty patients were treated in this double-blind, placebo controlled, cross-over trial with either buspirone HCl 30 mg twice daily or placebo for 3 months. Buspirone was not shown to be superior to placebo in the treatment of patients with SCA.

Adie's pupils in paraneoplastic ganglionopathy with ANNA-1.

Autonomic disturbances are common in patients with paraneoplastic syndromes associated with type-1 antineuronal nuclear autoantibodies (ANNA-1), although pupillary disturbances are infrequent. The authors describe a patient with ANNA-1 associated paraneoplastic sensory neuronopathy and bilateral Adie's pupils.

Clinical and magnetic resonance imaging manifestations of neurosarcoidosis.

OBJECTIVES: To describe clinical and neuroimaging manifestations of neurosarcoidosis in a cohort of 21 patients. PATIENTS AND METHODS: We reviewed records of 21 patients with sarcoidosis and central nervous system (CNS) manifestations referred to Cooper University Hospital, with emphasis on neuroimaging findings and associated clinical and laboratory evidence of sarcoidosis. Nineteen patients were categorized as having "definite," "probable," or "possible" neurosarcoidosis, while 1 had associated CNS vasculitis and another had Hodgkins lymphoma with cauda equina syndrome. RESULTS: The most common manifestations included myelopathy, cranial neuropathies, and encephalopathy. In 6 patients, CNS biopsy showed sterile, noncaseating granuloma (NCG), while in the remainder, the diagnosis was established through a combination of clinical, radiographic, and laboratory findings. Notably, 10 patients developed acute neurological emergencies, including seizures, spinal cord compression, and increased intracranial pressure. Findings on magnetic resonance imaging (MRI) included a variety of manifestations, including isolated mass lesion, diffuse intraparenchymal inflammatory lesions in the brain and spinal cord, leptomeningeal enhancement, hydrocephalus, and intracranial hemorrhage. CONCLUSIONS: Sarcoidosis is associated with diverse neurological manifestations and neuroimaging findings. The diagnosis of isolated CNS sarcoidosis requires a biopsy to document the presence of sterile NCG and to exclude neoplasms and other granulomatous diseases. When a biopsy of the CNS is not possible, a diagnosis of neurosarcoidosis can reasonably be supported in many patients by MRI findings and exclusion of other disorders. RELEVANCE: Optimum management of patients with neurosarcoidosis relies on the ability of clinicians to recognize the broad spectrum of clinical and neuroimaging manifestations of the disorder.

Consensus criteria for the diagnosis of multifocal motor neuropathy.

At this time, there are no widely accepted criteria for the diagnosis of multifocal motor neuropathy. Furthermore, there is insufficient empirical data to define clinical and laboratory features that may reliably separate certain lower motor neuron syndromes with overlapping features as distinct. The AAEM therefore developed five criteria through a formal consensus process that are described in this document to act as a guide for diagnosing multifocal motor neuropathy with a high level of confidence (definite multifocal motor neuropathy) or with a moderate level of confidence (probable motor neuropathy). In brief, the diagnosis requires clinical weakness without objective sensory loss or upper motor neuron signs in the distribution of two or more named nerves that is due to conduction block in two or more motor nerves outside of common entrapment sites. Furthermore, normal results are required for sensory nerve conduction studies.

Cardiac disease in myasthenia gravis: a literature review.

Patients with myasthenia gravis might develop various cardiac disorders, yet a causal relationship remains unestablished. Because causes of sudden death in this population have not been ascertained, further attention to possible cardiac disease in this population is warranted. We summarize the current literature and describe the possible etiologies and implications of cardiac disease in myasthenics.