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Different Presentations of Myelopathy—A Case Series
Subjectively, he complained of decreased sense of balance. He had been started on baclofen for spasticity but this was only mildly helpful. There was no notable family history for gait disturbance or other neurologic deficits. Physical Examination Pertinent findings on examination revealed sparse hair, normal skin color for race, normal motor strength, increased muscle tone in the lower extremities, and a slightly decreased vibratory sensation at the toes. The remainder of his sensory examination was normal. Deep tendon reflexes were diffusely hyperactive, with sustained bilateral ankle and patellar clonus.
His gait was spastic, with scissoring noted in the left leg. He was unable to tandem or heel walk. Diagnostic Studies MRI of the thoracic spine from an outside facility reportedly showed midthoracic cord atrophy. Nerve conduction study NCS of the right lower extremity and the left upper extremity revealed normal sensory and motor responses.
Posterior tibial H-reflexes were symmetric but of large amplitude at subthreshold stimulation. Electromyographic examination revealed no evidence of fibrillation potentials, positive sharp waves, fasciculations, or neurogenic changes. Insertional activity was also normal.
Serum copper, methylmalonic acid, and homocysteine were normal. Very long chain fatty acids, namely, tetracosanoic acid C , hexacosanoic acid C , and their ratios to docosanoic acid C of the serum were elevated. This mutation is thought to be responsible for deficiencies in transporting very long-chain fatty acids VLCFAs into peroxisomes.
As a result, this and other mutations in the ABCD1 gene result in fatty acid accumulation in tissue. This particular frameshift mutation is expected to be inherited in an X-linked recessive fashion. He will also be undergoing extensive physical therapy for gait training and mobility. He will be followed closely with yearly MRIs of the brain to look for signs of cerebral demyelination.
Sarah T Pendlebury, Philip Anslow, and Peter M Rothwell
Case 3 History A year-old female with a history of diabetes, previous gastric bariatric surgery, and a subsequent weight loss of more than pounds presented for evaluation of gait abnormality and sensory changes. Her bariatric surgery was performed over seven years ago, however, she had a recent partial gastrectomy to treat her gastroesophageal reflux disease GERD symptoms four months prior to symptom onset. She developed progressive problems with balance, which was worse in the dark, and she suffered from falls, which resulted in a fractured shoulder.
Her gait deteriorated to the point where she required a wheelchair for mobility. The patient described problems with tingling in her fingers, particularly in the index fingers and thumbs of both hands, and in the lower extremities extending from the toes to the mid-thighs. Her course was initially progressive but appeared to stabilize in the months prior to her initial presentation.
Physical Examination Pertinent findings on examination revealed significantly decreased vibratory sensation in all four extremities and decreased position sense in the toes bilaterally. She had mild weakness in her bilateral hip flexors, wrist extensors, knee extensors, and shoulder abductors.
Deep tendon reflexes were absent at the ankles and brachioradialis bilaterally. Babinski testing revealed a triple flexion response. Her gait was cautious and unsteady. Romberg testing showed prominent truncal ataxia.
She was unable to toe, heel, or tandem walk. She exhibited a wide-based stance. Imaging studies were also pursued. Electrodiagnostic studies revealed a mild length-dependent axonal sensorimotor neuropathy. Antibodies to aquaporin 4 were negative, as imaging may have been consistent with neuromyelitis optica. Imaging MRI of the brain with and without contrast was unremarkable.
MRI of the cervical spine without contrast revealed T2 hyperintensity within the posterior central aspect of the cord from the C2 to the C6 level. Images are shown below Figures 3 and 4. Clinical Course The patient had been treated with vitamin B12 injections and elemental copper supplementation prior to our initial neuromuscular evaluation. She was also instructed to limit her zinc intake. Her clinical course, although initially progressive, had stabilized and indeed the sensory symptoms in her upper extremities have improved since the initial evaluation.
She will be followed for signs of clinical improvement and serial serum copper evaluations.
Physical exam findings for each case are summarized in Table 2. Discussion Case One—Ossification of Posterior Longitudinal Ligament OPLL is an important cause of myelopathy that results from the ossification of the posterior longitudinal ligament PLL , usually in the cervical region, but may extend into the thoracic and lumbar regions as well.