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1/403. Rigid spine syndrome. Case report.

    We describe a patient who had difficulty in walking since toddling stage and presented proximal upper and lower member weakness which have evolved to a progressive limitation of neck and trunk flexure, compatible with rigid spine syndrome. The serum muscle enzymes were somewhat elevated and the electromyography showed a myopatic change. The muscle biopsy demonstrated an active and chronic myopathy. The dna analysis through PCR did not display any abnormality for dystrophin gene. The dystrophin by immunofluorescence was present in all fibers, but some interruptions were found in the plasma membrane giving it the appearance of a rosary. The test for merosin was normal.
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2/403. Delineation of two distinct 6p deletion syndromes.

    Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investigation of six cases with 6p deletions and two cases with unbalanced translocations resulting in monosomy of the distal part of 6p. The breakpoints of the deletions have been determined accurately by using 55 well-mapped probes and fluorescence in situ hybridization (FISH). The cases can be grouped into two distinct categories: interstitial deletions within the 6p22-p24 segment and terminal deletions within the 6p24-pter segment. Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/Rieger anomaly, hypertelorism and deafness with deletions of 6p25. The two cases with unbalanced translocations presented with a Larsen-like syndrome including some characteristics of the 6p deletion syndrome, which can be explained by the deletion of 6p25. Such investigation of cytogenetic abnormalities of 6p using FISH techniques and a defined set of probes will allow a direct comparison of reported cases and enable more accurate diagnosis as well as prognosis in patients with 6p deletions.
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3/403. Cardiac involvement in proximal myotonic myopathy.

    Proximal myotonic myopathy (PROMM) is a recently described autosomal dominantly inherited disorder resulting in proximal muscles weakness, myotonia, and cataracts. A few patients with cardiac involvement (sinus bradycardia, supraventricular bigeminy, conduction abnormalities) have been reported. The cases of three relatives with PROMM (weakness of neck flexors and proximal extremity muscles, calf hypertrophy, myotonia, cataracts) are reported: a 54 year old man, his 73 year old mother, and 66 year old aunt. All three presented with conduction abnormalities and one had repeated, life threatening, sustained monomorphic ventricular tachycardia. This illustrates that severe cardiac involvement may occur in PROMM.
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4/403. Jarcho-Levin syndrome: report on a long-term follow-up of an untreated patient.

    Jarcho-Levin syndrome is a genetically transmitted rare entity characterized by multiple vertebral and rib anomalies. The multilevel skeletal involvement causes short stature, neck and thoracic cage deformities, and restrictive lung disease that is usually the cause of early death. The authors describe a 33-year follow-up of a patient with this syndrome who represents, to their best knowledge, the longest survival of a patient with this entity.
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5/403. Use of cervical spine manipulation under anesthesia for management of cervical disk herniation, cervical radiculopathy, and associated cervicogenic headache syndrome.

    OBJECTIVE: To demonstrate the benefits of cervical spine manipulation with the patient under anesthesia as an approach to treating a patient with chronic cervical disk herniation, associated cervical radiculopathy, and cervicogenic headache syndrome. CLINICAL FEATURES: The patient had neck pain with radiating paresthesia into the right upper extremity and incapacitating headaches and had no response to 6 months of conservative therapy. Treatment included spinal manipulative therapy, physical therapy, anti-inflammatory medication, and acupuncture. magnetic resonance imaging, electromyography, and somatosensory evoked potential examination all revealed positive diagnostic findings. INTERVENTION AND OUTCOME: Treatment included 3 successive days of cervical spine manipulation with the patient under anesthesia. The patient had immediate relief after the first procedure. Her neck and arm pain were reported to be 50% better after the first trial, and her headaches were better by 80% after the third trial. Four months after the last procedure the patient reported a 95% improvement in her overall condition. CONCLUSION: Cervical spine manipulation with the patient under anesthesia has a place in the chiropractic arena. It is a useful tool for treating chronic discopathic disease complicated by cervical radiculopathy and cervicogenic headache syndrome. The beneficial results of this procedure are contingent on careful patient selection and proper training of qualified chiropractic physicians.
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6/403. Combined endoscopic and surgical management of mirizzi syndrome.

    mirizzi syndrome is a form of obstructive jaundice caused by a stone impacted in the gallbladder neck or the cystic duct that impinges on the common hepatic duct with or without a cholecystocholedochal fistula. This syndrome is a rare complication of cholelithiasis that accounts for 0.1% of all patients with gallstone disease. Preoperative recognition is necessary to prevent injury to the common duct during surgery. We present a patient with a preoperative diagnosis of type I mirizzi syndrome that was confirmed and drained by endoscopic retrograde cholangiography (ERC), followed by subtotal cholecystectomy. A review of the literature covering its clinical presentation, diagnosis, and surgical treatment is also presented.
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7/403. Focal, steroid responsive myositis causing dropped head syndrome.

    The dropped head syndrome, which occurs in a variety of neuromuscular disorders, is usually not due to an inflammatory process and generally either self-limited or nonresponsive to therapy. We present an 80-year-old woman who developed progressive neck weakness over a few months due to a focal and restricted inflammatory process involving the neck extensor muscles. She responded dramatically to treatment with immunosuppressive therapy.
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keywords = neck
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8/403. Postanginal septicaemia with external jugular venous thrombosis: case report.

    Postanginal septicaemia is a syndrome of anaerobic septicaemia, septic thrombophlebitis of the internal jugular vein, and metastatic infections, that follows a localized infection in the area drained by the large cervical veins. The syndrome was well-known and often fatal in the preantibiotic era. It is now rather rare, presumably as a result of the almost routine use of prophylactic antibiotics. The symptoms are classic, and it should be suspected in any case where septicaemia and metastatic lesions are preceded by a head and neck infection. We report a case that is typical, except that branches of the external jugular vein were thrombosed. To our knowledge this has not been reported previously.
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9/403. Trousseau's syndrome with brachiocephalic vein thrombosis in a patient with uterine carcinosarcoma. A case report.

    The authors treated a patient with the previously unreported occurrence of brachiocephalic vein and superior vena cava thrombosis in association with a distantly located cancer. A 71-year-old woman presented with swelling over the right side of the neck and abdominal distension. physical examination revealed a huge mass, and computed tomography demonstrated thrombosis of the brachiocephalic vein and superior vena cava accompanied by jugular vein dilatation. No coagulation disorder was demonstrable. After anticoagulation and thrombolysis, hysterectomy was performed; microscopic examination of the specimen revealed uterine carcinosarcoma. Even though local tumor obstruction is a much more common cause of neck vein thrombosis, a distant occult cancer can present as this form of Trousseau's syndrome. In patients with otherwise unexplained neck vein thrombosis, examination not only of the head and neck but also of the abdomen and pelvis should be pursued.
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keywords = neck
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10/403. adult-onset nemaline myopathy: Another cause of dropped head.

    A 59-year-old man with severe neck extensor weakness had findings diagnostic of nemaline myopathy on muscle biopsy. review of the literature shows that dropped head occurs in nearly half of the patients with adult-onset nemaline myopathy. Other leading causes of dropped head syndrome are amyotrophic lateral sclerosis, myasthenia gravis, and isolated neck extensor myopathy.
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keywords = neck
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