Parkes Weber syndrome: a rare cause of foot drop.

This case report describes a patient in her late 60s, previously diagnosed with Klippel-Trenaunay syndrome who presented with difficulty walking. A year prior to her presentation she had a fall which made her notice a painless foot drop on the right. Her right leg was profoundly hypertrophied compared with the left, and a port-wine stain was present on the lateral side, extending from the hip to the mid-shin. The patient's differential diagnosis based on clinical examination and investigations is discussed leading to a final diagnosis of sciatic neuropathy secondary to an arteriovenous malformation due to Parkes Weber syndrome.

A Case of Combined Central and Peripheral Demyelination Associated With Antineurofascin 155 Antibodies and Paternal History of Multiple Sclerosis.

INTRODUCTION: Combined central and peripheral demyelination (CCPD) is a term used to describe a rare condition involving demyelinating lesions of both the central and the peripheral nervous system. Its etiology remains unclear, and a pathogenic role of cell-mediated and/or humoral immunity has been proposed. A number of patients with CCPD are positive to antineurofascin (anti-NF), antigalactocerebroside, and antilactosylseramide antibodies. The relation between CCPD and multiple sclerosis (MS) is unclear. CASE REPORT: We report the case of a 30-year-old man who was referred for evaluation after having episodes of numbness and gait impairment worsened by intravenous Methylprednisolone and was found to have demyelination in both central and peripheral nervous system. The patient was eventually diagnosed with anti-NF 155 CCPD and received multiple courses of intravenous immunoglobulin without significant improvement, while he remained stable under Rituximab. Interestingly, the patient's father suffered from a mild form of relapsing remitting MS. CONCLUSION: Our case emphasizes that clinicians need to keep in mind the possibility of a coexisting demyelination in both central and peripheral nervous system, even in patients with a family history of MS. The need for a timely diagnosis is imperative since several drugs used in the management of MS can worsen the patient's symptoms in CCPD. This is, to our knowledge, the first reported case of a patient with anti-NF 155 positive CCPD and a family history of MS.

A novel case of inclusion body myositis and myasthenia gravis.

The co-existence of myasthenia gravis and other inflammatory myopathies has been reported in the literature before, but no clinical cases involving inclusion body myositis have been reported. We report a case of a 67-year-old patient who presented with dysphagia, exhibiting the typical electrophysiological features of postsynaptic neuromuscular junction defect with positive muscle acetylcholine receptor antibodies, consistent with the diagnosis of myasthenia gravis. Nevertheless, response to acetylcholinesterase inhibitors and immunomodulatory treatment was unexpectedly poor. As the disease progressed, the patient developed asymmetric muscle weakness, initially affecting mainly the quadriceps and the finger flexors. Muscle MRI imaging supported the presence of an inflammatory myopathy and muscle biopsy confirmed the diagnosis of inclusion body myositis. Thus, our patient represents the first reported overlap case of myasthenia gravis and inclusion body myositis.

Prevalence of Anti-JC Virus (JCV) Antibodies in the Multiple Sclerosis (MS) Population in Cyprus: A Retrospective Study.

BACKGROUND AND PURPOSE: Progressive multifocal leukoencephalopathy (PML) is a debilitating disease of the central nervous system caused by the ubiquitous polyomavirus JC (JCV) in immunocompromised hosts. In recent years, a new subpopulation of patients at risk for PML has emerged, due to the growing use of immunomodulatory or immunosuppressive therapies in autoimmune diseases such as multiple sclerosis (MS). The anti-JCV antibody index is used as a stratification tool in assessing the risk of developing PML. The objective of this study was to retrospectively describe the prevalence of anti-JCV antibodies in the MS population in Cyprus. METHODS: We retrospectively collected the demographics of 214 MS patients in Cyprus who were screened for anti-JCV antibodies using the STRATIFY JCV™ assay between September 2011 and June 2018. Logistic regression analysis was used to examine the effect of demographic variables on seropositivity, and bivariate tests were used to assess the association between demographic characteristics and JCV AI index. RESULTS: A total of 214 MS patients in Cyprus were tested. Overall anti-JCV antibody prevalence was 45.8% (95% confidence interval 37.2%-55.8%). We could not establish a significant association between seropositivity and increasing age or sex. In the subgroup analysis of natalizumab-treated patients, the annual seroconversion rate was 4.5%. CONCLUSIONS: Overall seroprevalence of anti-JCV antibodies in MS patients in Cyprus using the STRATIFY JCV assay was lower than the worldwide reported mean. Although previously reported, in our study, the anti-JCV antibody seropositivity was not associated with increasing age or sex.

Does Natalizumab Induce or Aggravate Psoriasis? A Case Study and Review of the Literature.

Psoriasis is a relatively common immune-mediated chronic inflammatory skin disease. It is well known that interferon-beta, a drug used in the management of relapsing-remitting multiple sclerosis, could exacerbate or induce de novo psoriasis. There is limited evidence in the literature based only on case reports that natalizumab could induce or aggravate psoriasis. In this case study, we present a 33-year-old patient who developed plaque psoriasis during natalizumab treatment.