Cases reported "Disease Progression"

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1/37. Cognitive deterioration associated with focal cortical dysplasia.

    Surgery for an area of focal cortical dysplasia in a critical region is reported in a right-handed female manifesting intractable focal epilepsy and verbal cognitive deterioration. She developed the first seizure at 2 years of age and was treated with phenytoin and zonisamide, with good control until 10 years of age. Although seizures did not occur at 9 years of age, she manifested dyscalculia, right-left disorientation, and finger agnosia, and N-isopropyl-p-iodoamphetamine single-photon emission computed tomography (SPECT) revealed focal hypoperfusion in the left parietal lobe. At 11 years of age, she developed regular nocturnal seizures and gradually lost the ability to understand the meaning of sentences. Verbal IQ declined from 94 to 63, and the area of hypoperfusion detected by interictal N-isopropyl-p-iodoamphetamine SPECT spread over the left parietotemporal lobes. magnetic resonance imaging revealed focal cortical dysplasia mainly in the left parietal lobe, and ictal technetium-99m-ethyl cysteinate dimer SPECT images demonstrated an area of hyperperfusion around the focal cortical dysplasia, including the left precentral gyrus. Because of the overlap between the epileptogenic and functional cortex, the authors concluded that cortical resection, including focal cortical dysplasia, was inappropriate in this patient.
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2/37. Digital clubbing in a patient with progressive mantle cell lymphoma.

    Digital clubbing with or without hypertrophic osteoarthropathy may occur in a variety of neoplastic diseases. We present the first description of digital clubbing in a patient with progressive mantle cell lymphoma, in the absence of any other apparent etiology. We suggest that clubbing might be a paraneoplastic manifestation in mantle cell lymphoma. The literature on digital clubbing in hematological neoplasms is reviewed.
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keywords = osteoarthropathy
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3/37. Acropathia ulcero-mutilans acquisita of the upper limbs.

    We report an 80-year-old woman with a bilateral mutilating acro-osteolysis of the fingers progressing over a period of 3 years. As the patient refused nerve or muscle biopsies, our diagnosis of acropathia ulcero-mutilans acquisita or Bureau-Barriere syndrome, characterized by osteolysis, remains hypothetical. Sporadic sensory mutilating acropathy of the upper limbs is rare, and we discuss the differential diagnosis.
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4/37. Ulcerated plaque in the ulnar artery causing distal seeding of microemboli: a possible early stage of ulnar artery thrombosis.

    angiography of a patient presenting with ischemia of the ring and small fingers, but with patent arterial inflow through the ulnar artery on Allen's test, demonstrated stenosis of the ulnar artery just distal to Guyon's canal. Surgical exploration revealed a discrete ulcerated plaque with an overlying loosely adherent thrombus. An ulcerated plaque in one of the main inflow arteries to the hand may produce ischemia of the fingers by seeding microemboli distally into the digital arteries. This pathophysiologic mechanism may represent a very early phase of incipient or impending thrombosis of the ulnar artery and may eventually progress to complete thrombosis. Early recognition and treatment by resection of the involved arterial segment and microsurgical reconstruction may prevent the evolution to complete ulnar artery thrombosis.
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keywords = finger
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5/37. Hereditary progressive mucinous histiocytosis.

    We describe a 61-year-old woman who presented with multiple small, firm, shiny, skin-coloured papules in a symmetrical pattern on the dorsum of the hands, sides of the fingers and extensor aspect of the forearms. These had slowly increased in number over a period of 40 years, and were asymptomatic. Both laboratory results and systemic review were unremarkable. Histological examination of six papules revealed well-circumscribed but unencapsulated dermal nodules composed of epithelioid histiocytes and abundant alcian blue-positive mucin separating broad bundles of collagen. histiocytes within the nodule stained positively with vimentin, and were focally positive for alpha1-antitrypsin and lysozyme. The interstitium was positive for tenascin. On electron microscopy, the histiocytes showed numerous circular, osmophilic myelin bodies and zebra bodies reminiscent of those seen in lysosomal storage diseases. Our patient's clinical, histological and ultrastructural features have been previously described as hereditary progressive mucinous histiocytosis, a rare familial form of eruptive histiocytoma characterized by multiple persistent papules with prominent mucinosis.
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6/37. optic neuritis in children.

    PURPOSE: To describe the clinical characteristics of optic neuritis in children, including final visual acuity and development of multiple sclerosis (MS). methods: charts were reviewed of all patients < 15 years of age who presented with optic neuritis to the Bascom Palmer eye Institute or the Miami Children's Hospital between 1986 and 1998. RESULTS: Fifteen patients were identified. There was a slight female predilection in the study group (60%), with a mean age of 9.8 years at presentation. A preceding febrile illness within 2 weeks of visual symptoms was reported in 66% of patients. Initial visual acuity ranged from 20/15 to no light perception. Involvement was bilateral in 66% of patients, and disc swelling was present in 64% of involved eyes. Of the patients who underwent magnetic resonance imaging, 33% had focal demyelinating lesions in the brain, and 63% of affected nerves were enlarged or enhanced with gadolinium. Eleven patients were treated with intravenous steroids. Final visual acuity was > or = 20/40 in 58.3% of eyes. Thirty percent of the patients had vision of finger counting or worse. Four (26%) patients developed MS. The mean age of patients with MS was 12 years, compared with 9 years in children who did not develop MS. patients with unilateral involvement had an excellent visual prognosis (100% > 20/40), but a higher rate of development of MS (75%). Two patients had positive serology for lyme disease. CONCLUSIONS: optic neuritis presents differently in children than in adults. Children typically have bilateral involvement with papillitis following an antecedent viral illness. Although visual prognosis is poorer in children than adults, the development of MS is less common in children. Children who present with unilateral involvement have a better visual prognosis; however, they also develop MS at a greater frequency than children with bilateral involvement. patients who developed MS were, on average, older at presentation with optic neuritis than those who did not develop MS.
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7/37. Systemic sclerosis: another rheumatic disease associated with hepatitis c virus infection.

    The first case of a patient with chronic infection with hepatitis c virus who developed systemic sclerosis, manifested by severe Raynaud's phenomenon, progressive skin thickening, painful fingertip ulcers, dysphagia and sjogren's syndrome, is described. The role of interferon therapy is discussed.
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8/37. An autosomal dominant early adult-onset distal muscular dystrophy.

    In this study we describe an autosomal dominant distal muscular dystrophy in a small Austrian family. The myopathy started in early adulthood with a slowly progressive weakness of the muscles of the anterior tibial compartment, followed by the long finger extensors and sternocleidomastoids in some family members. Other muscles were spared. Histopathology showed fiber size variation and autophagic vacuoles. This disease pattern is similar to Laing distal myopathy, which has been described previously in only one other family.
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keywords = finger
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9/37. Bilateral painful hand-moving fingers: electrophysiological assessment of the central nervous system oscillator.

    We describe a 35-year-old woman who presented with the syndrome of painful hand-moving fingers on the right side. Eight months later, she developed similar finger movements and hand discomfort on the left side. She had a history of hand trauma and recurrent shoulder dislocation on the right side. Kinesiologic electromyography suggested a common central oscillator for finger movements in both hands. Electrophysiological assessment of spinal alpha motor neuron excitability, reciprocal inhibition, and Renshaw cell inhibition failed to show any abnormalities. Somatosensory evoked potential test showed marked attenuation of N20 potential recorded from the left somatosensory cortex; paired transcortical magnetic stimulation of the left motor cortex suggested failure of cortical facilitation. The data suggest that the central oscillator responsible for finger movements is located above the spinal cord level in this patient.
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10/37. Delayed onset of hemidystonia and hemiballismus following head injury: a clinicopathological correlation. Case report.

    The authors report the case of a young man who suffered multiple injuries in a motor vehicle accident, the most significant of which arose in the brain, creating an unusual clinical syndrome. After experiencing an initial coma for several days, the patient was found to have a right-sided homonymous hemianopsia and a right hemiparesis, which was more marked at the shoulder and was accompanied by preservation of finger movement. Dystonic movements appeared 2 months later and progressed, along with increased spasticity on volition, to severe uncontrolled arm movements at 2 years postinjury. This motor disorder continued to worsen during the following 6 years prior to the patient's death. At autopsy, the left side of the brain was observed to have marked atrophy of the optic tract, a partial lesion of the posterior portion of the medial segment of the globus pallidus (GP), and a reduction in the size of the internal capsule at the level of the GP, suggesting impaired circulation to these areas at the time of injury. The isolated lesion of the internal segment of the GP was the presumed cause of the dystonia, acting through an alteration in thalamic inhibition. The atrophic subthalamic nucleus was the probable cause of the hemiballismus. The authors speculate that this and other delayed and progressive features of this case were the result of an active, but disordered, adaptive process that failed to compensate and, instead, caused even greater problems than the original injury.
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