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11/18. dystonia in a 13-year-old boy with secondary progressive multiple sclerosis.

    We report a patient who developed relapsing-remitting multiple sclerosis (MS) at 8 years old, and then had a progressive clinical course and dystonia. dystonia of the patient is probably due to a lesion of the basal ganglia. Abnormal posture or movement disorder is very rarely found in MS, and progressive clinical course is also rare in childhood. The patient is worthy of attention because of his childhood onset, progressive clinical course and dystonia. ( info)

12/18. Brachial neuropathy after immunosuppression and stem cell transplantation for multiple sclerosis.

    We present a case of brachial neuritis in an adult male who underwent high-dose immunosuppressive therapy and autologous stem cell transplantation (SCT) for primary progressive multiple sclerosis (MS). Brachial neuropathy following SCT has not previously been reported in patients with MS. The etiology of peripheral nerve dysfunction following SCT remains obscure. ( info)

13/18. nursing grand rounds: multiple sclerosis.

    multiple sclerosis (MS) is a highly variable, unpredictable disease and one of the most life-altering diagnoses a person can receive. Because it usually strikes in the prime of life, frequently progresses to disability, and has no cure, MS can make a strong emotional impact--not only on those who suffer from it, but also the healthcare team. Because MS is such a complex, multifaceted disorder, nurses who care for people with MS are faced with numerous clinical challenges. Many of the challenges are unique to MS, demanding, and time-consuming. Well-informed nurses are positioned to evaluate and explain the disease process, assist in the alleviation of symptoms, educate partners and families, and help improve quality of life. A case example can help nurses understand the real-life concerns of a person with MS. ( info)

14/18. Severe delayed heart failure in three multiple sclerosis patients previously treated with mitoxantrone.

    mitoxantrone is an approved drug for patients with worsening relapsing-remitting, secondary progressive and progressive relapsing multiple sclerosis (MS). From a cohort of 820 MS patients, 52 (6%) were treated with this drug between December 1991 and April 2003. mitoxantrone was administered at a dose of 12 mg/m(2) once a month for three months and then at three-month intervals to reach a total cumulative dose of 144 mg/m(2). The left ventricular ejection fraction was checked by radionuclide ventriculography prior to treatment and every six months. Treatment was stopped if the ejection fraction was below 50% in two consecutive ventriculographies performed one to three months apart. Cardiotoxicity during the course of the treatment was not observed. However, three patients developed congestive heart failure 24, 39 and 80 months after the last dose of mitoxantrone. Other cardiac causes were excluded. Two of these patients had been treated previously with cyclophosphamide. All patients first recovered on medical treatment, but two worsened a few months later. One patient remained severely symptomatic in spite of optimal medical treatment. Although mitoxantrone is generally well tolerated and reduces progression of disability and clinical exacerbations, our observation of a delayed cardiotoxicity makes necessary a long-term follow-up of MS patients treated with this drug. ( info)

15/18. Autologous stem cell transplantation as rescue therapy in malignant forms of multiple sclerosis.

    Malignant forms of multiple sclerosis (MS) represent a limited group of very aggressive demyelinating diseases, which rapidly progress to severe disability leading often to life-threatening conditions. On these clinical entities, currently available therapies for MS are not very effective. Recently, it has been demonstrated that intense immunosuppression followed by autologous stem cell transplantation (ASCT) can affect the clinical course of individuals with severe MS and completely abrogate the inflammatory activity detected by magnetic resonance imaging (MRI). We report on the treatment with intense immune ablation followed by ASCT of three patients with malignant MS whose clinical course indicated a dramatically poor prognosis. This procedure succeeded in halting the rapidly worsening course of disease. The effect was long lasting, as demonstrated by a sustained efficacy over a two-year period in two subjects and 12 months in the third case. In addition, a striking effect on inflammation-related MRI findings was obtained. These results support a role for intense immunosuppression followed by ASCT as treatment in rapidly evolving malignant MS cases unresponsive to conventional therapies. ( info)

16/18. Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.

    We report a 49-year-old woman with a history of progressive gait disturbance, white matter disease, and cerebrospinal fluid immunoglobulin abnormalities who met criteria for primary progressive multiple sclerosis and whose son died at age 10 years of an unknown congenital neurodevelopmental disorder. Sequencing of the proteolipid protein 1 gene showed a novel mutation, Leu30Arg (c.89TG), in the mother and son. pelizaeus-merzbacher disease is the cause of death in the son and explains the mother's adult-onset neurological disorder. This case goes against dogma that mothers of severely affected sons are asymptomatic as adults and expands the differential diagnosis of primary progressive multiple sclerosis to include proteolipid protein 1 gene mutations. ( info)

17/18. Increased accumulations of N-isopropyl-p-[123I]-iodoamphetamine related to tumefactive multiple sclerosis.

    We present a 21-year-old woman with tumefactive multiple sclerosis (MS) that exhibited a rapidly progressive course. There were multiple tumor-mimicking contrast-enhance lesions with surrounding edema and mass effect on magnetic resonance imaging. Both early and delayed brain single photon emission computed tomography (SPECT) with N-isopropyl-p-[123I]-iodoamphetamine demonstrated increased accumulations of the tracer and a high retention on the lesions. The SPECT findings represent a diagnostic pitfall for distinguishing MS from malignant brain tumors in patients with intracranial tumor-like lesions. ( info)

18/18. Gender change and its impact on the course of multiple sclerosis.

    We report the case of a 22-years old genotypic women suffering from a relapsing-remitting multiple sclerosis (MS) according to the Poser criteria. In this patient, a gender change had been performed by androgen-supplementation and surgical intervention. During gender change, the patient experienced further relapses. Different immunomodulatory and immunosuppressive treatment strategies did not stabilise the course of MS in this patient. Actually, an escalating therapy with mitoxantrone has been initiated. During the observation period the patient received long-term testosterone-supplementation. testosterone levels were elevated in the serum of this genotypic female MS patient under such a hormonal treatment compared to normal ranges before. The clinical course of the patient is presented in this case. As there are several studies investigating an immunomodulatory impact of hormones on the course of MS or experimental allergic encephalomyelitis, we discuss the presented case and a possible influence of androgens in this patient. ( info)
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