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.
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.
POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes) is a disorder that mainly affects adults. We report a pediatric patient, initially considered to have Guillain-Barré syndrome, who continued to have progression of neuropathic disease leading to the diagnosis of chronic inflammatory demyelinating polyneuropathy. Diagnosis of POEMS was established by an abnormal bone marrow biopsy, prompted by laboratory and imaging findings, which became abnormal later in the course of the disease. POEMS syndrome is extremely rare in children, and neuropathic features in this age group have not been previously described. This case illustrates that "Guillain-Barré syndrome-like" initial presentation for POEMS, which has not been previously reported. It also emphasizes that in children with progressive acquired neuropathies that are treatment unresponsive, POEMS syndrome should be considered.
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