Isolated dropped head due to adult-onset nemaline myopathy treated by posterior fusion.
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Biomedical subjects
Publications and source records attributed to B Katirji.
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We report the clinical and electrodiagnostic findings of a 39-year-old patient who presented with severe, bilateral and asymmetrical, axon-loss brachial plexopathies occurring in the midst of diabetic ketoacidosis. This patient's unusual presentation is not consistent with the rare diabetic polyradiculopathy of the upper extremities usually occurring in association with diabetic amyotrophy.
Multifocal motor neuropathy is a disorder characterized by slowly progressive asymmetrical limb weakness and multiple motor conduction blocks. We report a 56-year-old woman with this disorder who presented unusually with respiratory failure and who initially had absent responses to phrenic nerve stimulation bilaterally. The mechanism of the patient's respiratory failure may have been chronic conduction blocks in the phrenic nerves leading to diaphragmatic weakness.
The clinical effect of carbamazepine (CBZ) on neuromuscular transmission is described in two children who presented in coma with diffuse hypotonia and areflexia following CBZ overdose. Repetitive nerve stimulation (RNS) showed a decremental response only at high-frequency stimulation. With supportive care, the patients made an uneventful recovery. Follow-up RNS was normal. This is the first report of a clinically evident neuromuscular transmission defect produced by CBZ. We postulate that CBZ's known effect on decreasing sodium channel depolarization produced a defect in neuromuscular transmission. The report emphasizes the contribution of RNS in the evaluation of coma of uncertain etiology, particularly in cases of possible intoxication, and the potential for CBZ to compromise neuromuscular transmission in normal individuals or in patients with a decreased neuromuscular transmission safety factor.
The clinical and electrodiagnostic presentation of peroneal neuropathies are detailed in this article. There is a special emphasis on nerve conduction study findings and their relationship to prognosis and management. The differential diagnosis of foot drop, including when caused by the anterior compartmental syndrome of the leg, is also discussed.
We describe a patient with complete (100%) innervation of the extensor digitorum brevis muscle by the accessory deep peroneal nerve, which resulted in an erroneous diagnosis of peroneal mononeuropathy.
We present a patient who developed Guillain-Barré syndrome (GBS) after a Cyclospora-induced diarrheal illness. We raise the possibility that Cyclospora is an infectious trigger for GBS in this patient. An active search for this agent in patients with GBS preceded by diarrheal illness is recommended.
Chronic relapsing axonal neuropathy is uncommon. I describe a 68-year-old patient who responded rapidly and repeatedly to intravenous immunoglobulin treatment.
One hundred and forty-four boys who had Duchenne muscular dystrophy were managed at a single center between 1953 and 1994 and were followed for a mean of 8.9 years. The long duration of follow-up provided an opportunity to examine the effects of physical therapy and orthopaedic treatment on contractures of the lower extremities and on the duration of the ability to walk. Contractures of the lower extremities were controlled best when patients were managed with a combination of daily passive stretching exercises, prescribed periods of standing and walking, tenotomy of the Achilles tendon, posterior tibial-tendon transfer, and application of knee-ankle-foot orthoses. Approximately two years after bracing, the severity of the contracture of the heel cords was similar in the patients who had had an operation and those who had not. By the fourth year after bracing, however, the patients who had had an operation had less severe contractures than those who had had bracing alone. Five to seven years after the operation and bracing, control of contractures was still good, especially for the patients who had had posterior tibial-tendon transfer. Contracture of the knee was well controlled five to seven years after bracing in all patients who had had bracing, with or without an operation. The program enabled the patients who had been managed with bracing to walk until a mean age of 13.6 years. After loss of the ability to walk with bracing, the ability to stand continued for an additional two years with use of orthoses. The findings of the present study demonstrate the value of traditional methods of operative treatment and bracing for controlling contractures of the lower extremities in patients who have Duchenne muscular dystrophy and for prolonging their ability to walk.
Neurogenic thoracic outlet syndrome (TOS) is caused by compression of the lower brachial plexus usually by a cervical rib or a fibrous band. We describe a 16-year-old girl with weakness and wasting of her right hand, which progressed over the ensuing years. She had been a competitive long distance freestyle and butterfly swimmer since age 8 years. A neurological exam at age 20, revealed severe atrophy and weakness of all intrinsic right hand muscles, more so of the thenar muscles, and hypesthesia along the ulnar aspect of the hand and forearm. EMG, which showed a severe chronic axon loss lower trunk brachial plexopathy with minimal fibrillations, was typical for classic neurogenic TOS. Chest and cervical spine X-rays and MRI of the cervical spine were normal. A supraclavicular exploration confirmed the absence of a cervical rib or band. The lower trunk was thickened under the scalenus anticus which was sectioned. Neurolysis was also done. She was advised to abandon swimming. A clinical and EMG follow-up 2.5 years later showed no significant changes. This is the first case of true neurogenic TOS caused by scalenus anticus compression occurring in a competitive swimmer.
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We report 4 patients with severe, axon-loss, high sciatic mononeuropathies affecting exclusively the peroneal fibers: a boy with a slowly-growing nerve tumor, a woman with an injection injury, and 2 patients who had undergone proximal femur surgery. Clinically, the findings mimicked those seen with common peroneal neuropathy at the fibular head. The peroneal conduction studies were very low in amplitude/unelicitable. Conversely, the tibial studies and H-responses were normal in all; the sural responses were normal in one while low in amplitude/unelicitable in the remaining three. The biceps femoris, short-head, and all peroneal-innervated muscles showed fibrillations and profound motor unit loss. Conversely, the remaining hamstrings and all tibial-innervated muscles were normal. We conclude that a sciatic lesion can imitate a more distal peroneal lesion. Needle EMG of the biceps femoris, short head, is essential for correct diagnosis.
In an attempt to correlate the tibial H-reflex with the ankle jerk, we evaluated 130 reflexes in 65 patients (35 men and 30 women). All the ankle jerks were graded by one of the authors (BK) without the knowledge of the H-reflex results. The maximal H-reflex amplitude, and the maximal H/maximal M amplitudes correlated in a positive fashion with the ankle jerk (r = 0.75 and 0.69 respectively). In contrast, there was no correlation between the H-reflex latency and the ankle jerk (r = -0.11). We conclude that, in most situations, the tibial H-reflex amplitude and the ankle jerk correlate well; their discordance is infrequent (11.5%).