Charcot-Marie-Tooth disease type 1A presenting as calf hypertrophy and muscle cramps.
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Anticonvulsants↗
Biomedical subjects
G I Wolfe
Publications and source records attributed to G I Wolfe.
The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis.
BACKGROUND: Myofibrillar myopathy (MFM) is characterized by nonhyaline lesions (foci of myofibrillar destruction) and hyaline lesions (cytoplasmic inclusions composed of compacted myofibrillar residues) on light and electron microscopy. Immunocytochemistry demonstrates the abnormal expression of desmin and numerous other proteins. The clinical, laboratory, and histologic features of MFM are heterogeneous, making a diagnosis difficult. RESULTS: We diagnosed eight patients with MFM over the preceding 3 years. MFM was inherited in an autosomal dominant pattern in one patient, developed sporadically in five patients, and was induced by an experimental chemotherapy, Elinafide (Knoll, Parsippany, NJ), in two patients. Age at onset ranged from 14 to 64 years. The pattern of weakness was variable but involved proximal and distal muscles. Five patients had evidence of a cardiomyopathy. Electromyography demonstrated muscle membrane instability and small, polyphasic motor unit potentials. Serum creatine kinase levels were normal to moderately elevated (<10x normal). Light and electron microscopy demonstrated the characteristic pattern of nonhyaline and hyaline lesions and the associated abnormalities on immunocytochemistry. CONCLUSIONS: Patients demonstrate a wide spectrum of clinical, laboratory, and histologic abnormalities. Chemotherapy-induced MFM has abnormalities on immunocytochemistry similar to the those of hereditary and sporadic cases. The pathogenesis of MFM is likely heterogeneous. However, MFM is distinctive in that it can preferentially affect distal muscles and has a frequent association with cardiomyopathy. The cardiomyopathy may be amenable to treatment with pacemaker insertion or cardiac transplantation.
Adult↗
Evaluation of neurologic function in Gulf War veterans. A blinded case-control study.
OBJECTIVE: To determine whether Gulf War-related illnesses are associated with central or peripheral nervous system dysfunction. DESIGN: Nested case-control study. PARTICIPANTS: Twenty-three veterans with factor analysis-derived syndromes (the cases), 10 well veterans deployed to the Gulf War (the deployed controls), and 10 well veterans not deployed to the Gulf War (the nondeployed controls). METHOD: With investigators blinded to group identities, participants underwent objective neurophysiological, audiovestibular, neuroradiological, neuropsychological, and blood tests. MAIN OUTCOME MEASURES: Evidence of neurologic dysfunction. RESULTS: Compared with the 20 controls, the 23 cases had significantly more neuropsychological evidence of brain dysfunction on the Halstead Impairment Index (P=.01), greater interside asymmetry of the wave I to wave III interpeak latency of brain stem auditory evoked potentials (P=.02), greater interocular asymmetry of nystagmic velocity on rotational testing, increased asymmetry of saccadic velocity (P=.04), more prolonged interpeak latency of the lumbar-to-cerebral peaks on posterior tibial somatosensory evoked potentials (on right side, P=.03, and on the left side, P=.005), and diminished nystagmic velocity after caloric stimulation bilaterally (P values range from .02 to .04). Cases (n=5) with syndrome 1 ("impaired cognition") were the most impaired on brain stem auditory evoked potentials (P=.005); those (n=13) with syndrome 2 ("confusion-ataxia") were the most impaired on the Halstead Impairment Index (P=.006), rotational testing (P=.01), asymmetry of saccadic velocity (P=.03), and somatosensory evoked potentials (P< or =.01); and those (n=5) with syndrome 3 ("arthro-myo-neuropathy") were the most impaired on caloric stimulation (P< or =.01). CONCLUSIONS: The 3 factor-derived syndromes identified among Gulf War veterans appear to represent variants of a generalized injury to the nervous system.
Adult↗
Antibody panels in idiopathic polyneuropathy and motor neuron disease.
We prospectively evaluated patients with idiopathic polyneuropathy (PN) and motor neuron disease (MND) with commercial antibody (Ab) panels. Patients with sensorimotor PN received a "sensorimotor neuropathy profile" [3-sulfated glucuronyl paragloboside (SGPG)/myelin-associated glycoprotein (MAG), GM1, asialo-GM1, GD1b, Hu, sulfatide]. Motor neuropathy or MND patients underwent a "motor neuropathy profile" (SGPG/MAG, GM1, asialo-GM1). Seven of 78 patients (9.0%) with sensorimotor PN and 3 of 44 patients (6.8%) with MND had abnormal panels. None of 60 patients with axonal sensory or sensorimotor PN had antisulfatide Ab. Seven of 13 patients (54%) with multifocal motor neuropathy had abnormal panels, with 6 seropositive to GM1. We found abnormal Ab panels in fewer than 10% of patients with idiopathic sensorimotor PN and MND. Moreover, abnormal Ab tests often did not relate to the clinical context. Our data do not support the use of commercial Ab panels in the evaluation of patients with idiopathic PN or MND.
Adolescent↗
Cylindrical spirals of myofilamentous origin associated with exertional cramps and rhabdomyolysis.
We describe the presence of cylindrical spirals on muscle biopsy from a 31-year-old man who developed rhabodomyolysis following a long run. He had a prior history of exertional cramps and myoglobinuria. His maternal grandfather had similar symptoms. Transmission electron micrographs demonstrated continuity between the lamellae of the cylindrical spirals and native myofilaments. Whether these unusual structures confer a derangement in myofilament function is uncertain.
Actin Cytoskeleton↗
Electrophysiologic findings in multifocal motor neuropathy.
We performed detailed electrophysiologic studies on 16 patients with clinically defined multifocal motor neuropathy and found a wide spectrum of demyelinating features. Only five patients (31%) had conduction block in one or more nerves. However, in 15 patients (94%) at least one nerve showed other features of demyelination. We also noted a significant degree of superimposed axonal degeneration in 15 patients. Eight patients (50%) had individual nerves with pure axonal injury, despite the presence of demyelinating features in other nerves. Antiganglioside antibodies were elevated in four of five patients with conduction block and five of 11 patients without conduction block. We conclude that multifocal motor neuropathy is characterized electrophysiologically by a wide spectrum of axonal and demyelinating features. Diagnostic criteria requiring conduction block may lead to underdiagnosis of this potentially treatable neuropathy.
Adult↗
Inclusion body myositis: clinical and pathological boundaries.
Inclusion body myositis, polymyositis, and dermatomyositis are three distinct categories of inflammatory myopathy. Some authorities commented on the selective early weakness of the volar forearm muscles, quadriceps, and ankle dorsiflexors in inclusion body myositis. The most important feature distinguishing inclusion body myositis from the other two inflammatory myopathies is the lack of responsiveness to immunosuppressive treatment. Although most patients with inclusion body myositis have characteristic muscle biopsy findings, some cannot be distinguished histologically early from polymyositis. Predicting responsiveness to immunosuppressive medications, independent of muscle histology, would be valuable to clinicians. We retrospectively reviewed the pattern of weakness and other clinical features of 46 patients newly diagnosed with either inclusion body myositis, polymyositis, or dermatomyositis. Asymmetrical muscle weakness with prominent wrist flexor, finger flexor, and knee extensor involvement was specific for inclusion body myositis and unresponsive polymyositis. Male sex, lower creatine kinase levels, slower rate of progression, and peripheral neuropathy were also more common in inclusion body myositis and unresponsive polymyositis than in responsive polymyositis and dermatomyositis patients. Repeat muscle biopsy in 2 patients in the unresponsive polymyositis group demonstrated histological features of inclusion body myositis. We suspect that patients with clinical features of inclusion body myositis but lacking histological confirmation may nonetheless have inclusion body myositis. Our study supports the recently proposed criteria for definite and possible inclusion body myositis.
Aged↗
Isolated neck extensor myopathy: a common cause of dropped head syndrome.
We report four patients with "dropped head syndrome," a recently described nonprogressive myopathy characterized by severe neck extensor weakness. This relatively benign condition may be confused with more ominous neuromuscular disorders that also present with prominent neck weakness. We compared clinical and laboratory data from the patients with dropped head syndrome with findings from patients with head drop caused by other neuromuscular conditions. Patients with "isolated neck extensor myopathy," a term we prefer to "dropped head syndrome," could be readily identified with electrophysiologic, radiographic, and histologic studies.
Aged↗
Site of autonomic dysfunction in a patient with Ross' syndrome and postganglionic Horner's syndrome.
Ross' syndrome is a rare peripheral nervous system disorder defined by Adie's tonic pupil, hyporeflexia, and segmental anhidrosis. Injury to postganglionic cholinergic fibers is believed to account for the tonic pupil and sweating disturbance. We report a 47-year-old man found to have Ross' syndrome in combination with a complete postganglionic Horner's syndrome. Pharmacologic and sudomotor tests in this unique patient provide further evidence that Ross' syndrome results from injury to sympathetic and parasympathetic ganglion cells or to their postganglionic projections.
Heart Rate↗
Systemic non-Hodgkin's lymphoma manifesting as neurogenic respiratory failure.
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Brain Neoplasms↗
Spontaneous remission of papilledema and sixth nerve palsy in acute lymphoblastic leukemia.
Spontaneous regression of hematologic malignancies is not uncommon and occurs in a wide variety of lymphomas and leukemias. In contrast, spontaneous remission of neurologic symptoms produced by these tumors is exceedingly rare. We report a patient with central nervous system acute lymphoblastic leukemia who experienced at least one spontaneous remission of papilledema and sixth nerve palsy. This represents, to our knowledge, the first case of spontaneous remission of neuro-ophthalmologic signs in a patient with acute leukemia. We conclude that meningeal leukemia may have a protracted course, and that spontaneous remission of neuro-ophthalmologic findings should not be so readily ascribed to a benign process in a patient with preexisting leukemia.
Abducens Nerve↗
Ocular tilt reaction resulting from vestibuloacoustic nerve surgery.
The ocular tilt reaction (OTR) is a triad of head-eye synkinesis composed of head tilt, conjugate ocular torsion in the direction of head tilt, and skew deviation. The OTR represents a normal compensatory response to lateral head tilts and is produced by activation of the utricle of the lowermost ear. A pathological OTR results when otolith activity is unopposed as the result of injury to the opposite utricle or its nerve. Vertical diplopia may be the only symptom of OTR in patients who have undergone surgery involving the vestibuloacoustic nerve. We report a series of patients with OTR after surgery for acoustic neuroma or Meniere's disease. In each patient, the manifesting symptom was vertical diplopia. Bedside neuro-ophthalmological testing readily excluded a brain stem cause for the double vision. We conclude that OTR after vestibuloacoustic surgery is a benign condition with spontaneous resolution of symptoms within several months.
Auditory Pathways↗
Sensory aprosodia with left hemiparesis from subcortical infarction. Right hemisphere analogue of sensory-type aphasia with right hemiparesis?
We report a case of sensory aprosodia with left hemiparesis following an ischemic infarction of the right thalamus and posterior limb of the internal capsule. Bedside evaluation, confirmed by special quantitative tests, demonstrated normal spontaneous affective prosody and gesturing with marked impairment of affective repetition and comprehension of affective prosody and gestures. A left hemiparesis with sensory loss was also present. This combination of deficits appears to represent the right-side analog to the unusual syndrome of Wernicke-type aphasia with right hemiparesis occasionally observed following left subcortical injury, thus providing further support for the hypothesis that the functional-anatomic organization of affective language in the right hemisphere mirrors that of propositional language in the left.
Auditory Perception↗