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Limb Involvement (limb + involvement)
Selected AbstractsAbstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 36JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2003F Logullo Diabetic lumbosacral radiculoplexus neuropathy (DLRPN) is a well-recognized subacute painful asymmetric proximal and distal lower limb neuropathy. DLRPN may be associated with thoracic and upper limb involvement. The latter may appear as compression mononeuropathies and as a more diffuse disorder consistent with cervicobrachial radiculoplexus neuropathy (DCRPN). We performed a multiperspective study of patients, seen between 1999,2002, with diabetes and acute or subacute onset and progression of unilateral or asymmetric bilateral proximal and/or distal weakness in lower and/or upper limbs. We excluded patients who had compression mononeuropathies or radiculopathies, multineuropathies or asymmetric poly(radiculo)neuropathies, motor neuron disease as suggested by clinical, electrophysiological, laboratory or MRI findings. During the study period we observed 18 patients with diabetic radiculoplexus neuropathy. Most patients were middle-aged or elderly and male preponderance was noted. Ten patients had DLPRN, 6 both DLPRN and DCRPN, 2 isolated DCRPN. DCRPN affected prevalently hands and forearms, unilaterally in 3 patients, bilaterally in 5, and improved spontaneously but incompletely in most patients in several months. Pain was not a prominent feature except for one patient. We conclude that diabetic radiculoplexus neuropathy may involve the cervicobrachial regions not only in association with DLRPN but also alone. [source] CMT1A Associated With The 17p11.2 Duplication: Differential Features And CorrelationJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2001D Pareyson A duplication on chromosome 17p11.2 encompassing the gene coding for the peripheral myelin protein-22 (PMP22) is the most common genetic abnormality underlying Charcot-Marie-Tooth disease (CMT). We report clinical and electrophysiologic features of our series of CMT1A patients harboring the duplication. There were 92 patients from 53 families representing 42% of all CMT index cases (n = 125) and 64% of CMT1 probands (n = 83). In CMT1A patients, mean age at onset was 9.7 ± 11.4 and was significantly lower than in non-duplicated CMT1 cases (12.6 ± 9.7, p < 0.01) and CMT2 cases (21.5 ± 17, p < 0.001). Clinical severity was similar to that of CMT2 patients, but significantly milder than in non-duplicated CMT1 cases. Pes cavus, upper limb involvement, deep tendon reflexes abnormalities, and sensory loss were more frequent compared to CMT2. Electrophysiologic examination revealed motor and sensory conduction velocity (MCV, SCV) slowing below 32 m/s in upper limbs. MCV and SCV were significantly lower than in non-duplicated CMT1 patients. Amplitudes of upper limb compound muscle action potentials (CMAPs) and of upper and lower limb sensory action potentials (SAPs) were significantly lower than in CMT2, paralleling clinical differences. Clinical severity correlated with CMAP amplitudes and with disease duration. On the other hand, MCV slowing was not correlated with either severity or duration of the disease. We found a direct correlation between age at onset and upper limb MCV slowing. Conclusions: CMT1A is an early-onset but slowly progressive disorder, on average milder than other CMT1. Axonal loss rather than demyelination per se underlies disease progression. [source] Stiff Limb Syndrome: End of Spectrum or A Separate Entity?PAIN MEDICINE, Issue 3 2009Usha K. Misra DM ABSTRACT Background., Stiff-person syndrome is a rare disorder characterized by rigidity of axial or limb muscles with episodes of co-contraction of agonist and antagonist muscles during the spasms. In some patients axial or limb involvement may predominate and may have unusual manifestations. Design., Case report. Setting., Tertiary care teaching hospital. Patient., A 42-year-old farmer presented with seasonal occurrence of hiccup and vomiting during summer months for the last 3 years. He had painful lower limb spasms lasting for 2,3 minutes every 10,15 minutes for the past 20 days. His neurological examination was normal, erythrocyte sedimentation rate (ESR) was 50 mm at 1st hour, and cerebrospinal fluid protein 78 mg/dL without pleocytosis. Radiograph of chest, abdominal ultrasound, and craniospinal magnetic resonance imaging were normal. The patient improved on diazepam. Conclusion., Our patient is a forme fruste of stiff person syndrome with hiccups and vomiting due to diaphragmatic spasm. [source] Prenatal diagnosis of a Turkish Bartsocas,Papas syndrome case with upper limb pterigiaPRENATAL DIAGNOSIS, Issue 6 2007Gülay Ceylaner Abstract Objectives Bartsocas,Papas syndrome is a severe, autosomal recessive syndrome. The major findings are severe popliteal webbing, ankyloblepharon, syndactyly, orofacial clefts, filiform bands, hypoplastic nose and ectodermal anomalies. We report a Turkish family with three affected pregnancies and a fetus prenatally diagnosed and terminated in pregnancy. Methods Obstetric ultrasound, amniocentesis and postmortem evaluation were done. Results Obstetric ultrasound presented lower limb malformations and facial findings. Postmortem fetal evaluation showed severe lower limb findings, less severe upper limb involvement and classical facial features of the syndrome. Conclusion Upper limb pterygia is an unusual finding and reported in just two patients who were classified as having multiple pterygium syndrome, Aslan Type (605203) in the OMIM catalogue. We thought, as did many other authors, that those cases were consistent with Bartsocas-Papas syndrome and upper limb involvement less severe than lower limb findings as rare findings of this syndrome. Copyright © 2007 John Wiley & Sons, Ltd. [source] Amnion rupture sequence in a first trimester missed abortionPRENATAL DIAGNOSIS, Issue 10 2001Tom Philipp Abstract We report the diagnosis of amnion rupture sequence made by sonography and fetoscopy during the first trimester of gestation in a case of missed abortion. The investigation revealed a demised fetus with the characteristics of 9 weeks of development. The early fetus had an amnion adhesion at the tip of the nose and strands of amnion wrapped around the terminal phalanges of both feet. No defects in addition to the face and limb involvement were identified. The karyotype was normal: 46,XX. In the reported case, fetoscopy allowed confirmation of the sonographic diagnosis of an amnion rupture sequence in the first trimester of gestation and consequently helped to clarify the cause of abortion in this case of early fetal demise. Copyright © 2001 John Wiley & Sons, Ltd. [source] | ||||||||||