Neurol Neurochir Pol
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Neurol Neurochir Pol · Sep 2013
Case ReportsNemaline myopathy in a newborn infant: a rare muscle disorder.
Nemaline myopathy (NM) is a genetically and clinically heterogeneous muscle disorder, defined by the presence of characteristic nemaline bodies on muscle biopsy. The disease has a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. The neonatal form is severe and usually fatal. ⋯ This article discusses a newborn infant who presented with generalized weakness and respiratory failure. Partial response to L-tyrosine treatment was noted. The case is worth presenting to remind clinicians of congenital myopathies in the differential diagnosis of floppy infant during neonatal period and to emphasize the importance of muscle biopsy in diagnosis.
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Neurol Neurochir Pol · Jul 2013
Comparative StudyThe dose-dependent neuroprotective effect of alpha-lipoic acid in experimental spinal cord injury.
Free radical production after spinal cord injury (SCI) plays an important role in secondary damage. The aim of this study was to investigate neuroprotective effects of the powerful antioxidant alpha-lipoic acid (ALA) in a spinal cord clip compression injury model. ⋯ Alpha lipoic acid at a dose range of 50-150 mg/ kg is as effective as MPSS (30 mg/kg) in neuroprotection after SCI. Further, more detailed experimental studies are needed to determine the effects of ALA on the detrimental results of secondary SCI before its use in humans.
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Neurol Neurochir Pol · Jul 2013
Case ReportsNummular headache after trans-sphenoidal surgery: a referred pain-based headache syndrome.
Nummular headache (NH) is a newly categorized primary headache characterized by a consistent location, shape and size of painful area in each attack. The etiopathogenesis is entirely unknown. Currently, the peripheral theory of epicranial neuralgia is accepted more widely than the central theory but it cannot fully explain the clinical picture. ⋯ The pain responded well to gabapentin. Therefore, physicians should be aware of postoperative NH, which is amenable to treatment. The findings in our patient support a dual mechanism of NH and suggest that central NH is a form of referred pain.
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At present, more than 20 different forms of limb-girdle muscular dystrophies (LGMDs) are known (at least 7 autosomal dominant and 14 autosomal recessive). Although these different forms show some typical phenotypic characteristics, the existing clinical overlap makes their differential diagnosis difficult. Limb-girdle muscular dystrophy type 2 (LGMD2A) is the most prevalent LGMD in many European as well as Brazilian communities and is caused by mutations in the gene CAPN3. Laboratory testing, such as calpain immunohistochemistry and Western-blot analysis, is not totally reliable, since up to 20% of molecularly confirmed LGMD2A show normal content of calpain 3 and a third of LGMD2A biopsies have normal calpain 3 proteo-lytic activity in the muscle. Thus, genetic testing is considered as the only reliable diagnostic criterion in LGMD2A. ⋯ These findings may be helpful in establishing diagnostic strategies in LGMD.
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Neurol Neurochir Pol · May 2013
Case ReportsRheumatoid atlantoaxial instability treated by anterior transarticular C1-C2 fixation. Case report.
The authors present a case that demonstrates the usefulness of anterior transarticular screw fixation in the treatment of instability due to rheumatoid arthritis. The surgical technique of this infrequently used procedure is presented. A 35-year-old female patient with medical history significant for rheumatoid arthritis complained of persistent headache and upper neck pain. ⋯ The authors used a right anterolateral approach to the cervical spine to perform fixation of lateral atlantoaxial articulations by means of titanium cannulated compressive screws. On 4-month follow-up examination, successful C1-C2 stabilization was documented. Despite restriction of neck rotation, the patient reported satisfactory improvement and re-turned to work.