Objective
In the past decade, hereditary forms of motor neuron disease (spinal muscular atrophy and/or amyotrophic lateral sclerosis) are increasingly identified. As advanced genetic testing is performed, molecular diagnosis can be obtained. Identifying new gene mutations can lead to further understanding of disease.
Methods and Results
We report a single case of a patient with early-onset amyotrophic lateral sclerosis, evaluated at University of Texas Health Houston Science Center from 2011–2014. Initial genetic testing did not reveal an etiology in this patient. Through whole-exome sequencing, a VRK1 mutation was identified.
Conclusions and Relevance
We identify a possible new cause of hereditary amyotrophic lateral sclerosis, VRK1 mutation. This case report also expands the phenotypic spectrum of this mutation in neurologic diseases.
and the Patient Assisted Intervention for Neuropathy: Comparison of Treatment in Real Life Situations (PAIN-CONTRoLS) Study Team IMPORTANCE Cryptogenic sensory polyneuropathy (CSPN) is a common generalized slowly progressive neuropathy, second in prevalence only to diabetic neuropathy. Most patients with CSPN have significant pain. Many medications have been tried for pain reduction in CSPN, including antiepileptics, antidepressants, and sodium channel blockers. There are no comparative studies that identify the most effective medication for pain reduction in CSPN.OBJECTIVE To determine which medication (pregabalin, duloxetine, nortriptyline, or mexiletine) is most effective for reducing neuropathic pain and best tolerated in patients with CSPN.
Although the response rate was low, the majority of the responders provide care to these children routinely, so it can be inferred that the results of this survey are the closest published results to the true trend.
Neuropathy as extramuscular manifestation of dermatomyositis (DM) is controversial due to uncommon occurrence, heterogeneity of associated nerve pathology, and lack of unifying pathogenetic mechanism(s). We describe a patient with classic manifestations of DM and extramuscular manifestation of neuropathy. Nerve pathology showed deposits of terminal complement complex (C5b-9). Her examination showed mild proximal weakness, rash, and sensory impairment in fingertips, toes, and nose. EMG/NCS revealed irritable myopathy and mild sensory neuropathy. Muscle biopsy showed features suggestive of DM, including deposition of C5b-9. CK was elevated to 214 and ANA was positive at 1:160. Etiological work up for neuropathy, including diabetes, was negative. Sural nerve biopsy at light level revealed very mild large fiber sensory neuropathy. EM showed moderately severe involvement of small sensory fibers. Neuropathy may be an underrecognized manifestation of DM. Nerve pathology demonstrating complement-mediated damage could be a unifying mechanism of muscle and nerve injury.
Objective:We describe an underrecognized side effect of high-dose IV immunoglobulin (IVIg), hemolytic anemia.Background:There are no established guidelines on treating patients with Guillain-Barré syndrome (GBS) who relapse or do not improve after a standard course of treatment (IVIg or plasma exchange). Some centers will opt for a second course of the initial treatment. There is an ongoing trial of a second course of IVIg in patients with severe GBS.Methods:We retrospectively reviewed 4 patients with severe GBS who received high-dose IVIg. One patient inadvertently received a high dose of IVIg for Miller Fisher syndrome. All patients received a total of at least 2 courses of the standard dose of IVIg (total >4 g/kg). We review their clinical course and side effects.Results:All patients with non-O blood types developed clinically significant hemolytic anemia requiring blood transfusion.Conclusion:Hemolytic anemia may limit doses of IVIg for treatment of severe GBS in patients with non-O blood types.
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