Acute severe sensory ganglionopathy in systemic lupus erythematous.

Sensory ganglionopathies (or neuronopathies) are a rare subgroup of neuropathies characterized by involvement of sensory neurons in the dorsal root ganglion. Although much less common than central nervous system involvement, patients with systemic lupus erythematous (SLE) can develop peripheral nervous system involvement (PNS) and most commonly a chronic length dependent symmetric sensorimotor axonal polyneuropathy as a late complication of the disease. Unlike in Sjogren's syndrome, SLE-associated sensory ganglionopathy is extremely rare and usually manifests in a chronic insidious fashion. We report a 24-year-old man with SLE-associated sensory ganglionopathy manifesting an unusually acute and severe disabling clinical course with a good response to immunosuppressive therapies. Timely recognition of this rare association and early targeted immunosuppression prevented severe neurological sequelae and preserved patient's ambulation. We demonstrate videos on the evolution of patient's neurological impairment and response to treatment, contributing to the current knowledge of the natural history of PNS involvement in SLE.

Rhombencephalitis and Myeloradiculitis Caused by a European Subtype of Tick-Borne Encephalitis Virus.

We report a case of a previously healthy man returning to the United Kingdom from Lithuania who developed rhombencephalitis and myeloradiculitis due to tick-borne encephalitis. These findings add to sparse data on tick-borne encephalitis virus phylogeny and associated neurologic syndromes and underscore the importance of vaccinating people traveling to endemic regions.

CAPN1 mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype.

Increasing availability of next-generation sequencing technologies has revealed several limitations of diagnosis-driven traditional clinicogenetic disease classifications, particularly among patients with an atypical or mixed phenotype. Hereditary spastic paraplegia (HSP) and spinocerebellar ataxia (SCA) are two such disease entities with an often overlapping presentation, in which next generation exome sequencing has played a key role in identification of genes causing disease along a continuum of ataxia and spasticity. We describe a patient who presented with features of both ataxia and spasticity, in whom initial diagnostic testing was inconclusive. Ultimately next generation exome sequencing identified homozygosity for a pathogenic variant in exon 13 of the CAPN1 gene c.1534C>T(p.Arg512Cys). This case supports consideration of a less discriminatory classification system among such patients, potentially allowing for more expedient diagnosis through testing of a larger gene panel along the 'ataxia-spasticity spectrum'.

Progressive multifocal leukoencephalopathy secondary to rituximab-induced immunosuppression and the presence of John Cunningham virus: a case report and literature review.

We present the case of a 60-year-old man who developed subacute neurologic changes, in the setting of stage III non-Hodgkin's follicular lymphoma, and was treated with induction chemotherapy, followed by a year of maintenance rituximab. Magnetic resonance imaging of the brain with gadolinium was pathognomonic for progressive multifocal leukoencephalopathy (PML). He was treated with sequential plasmapheresis and intravenous immunoglobulin with clinical improvement. A literature review of the diagnostic workup of rituximab-induced PML was undertaken. This case and the literature review demonstrate the important role of magnetic resonance imaging of the brain in diagnosis and follow-up of rituximab-induced PML. Specific radiologic features in combination with cerebrospinal fluid can be diagnostic and avoid the morbidity and mortality of a diagnostic brain biopsy. Plasmapheresis and intravenous immunoglobulin have a therapeutic role and demonstrate symptom improvement and disease control. Follow-up imaging in combination with clinical response is important in demonstrating a treatment response.

Maternal obesity and induction of labor.

OBJECTIVE: To review induction of labor analyzed by body mass index (BMI) category in primigravidas and multigravidas. DESIGN: Prospective observational study. POPULATION: Women enrolled after sonographic confirmation of singleton pregnancy in the first trimester. SETTING: Large university teaching hospital. METHODS: Maternal height and weight were measured accurately before BMI calculation. Clinical details were recorded after review of individual obstetric records. MAIN OUTCOME MEASURES: Emergency cesarean section and obstetric interventions. RESULTS: Of 2000 women enrolled, 50.4% (n = 1008) were primigravidas and 17.3% (n = 346) were obese. The induction rate was 25.6% and the overall cesarean section rate 22.0%. Primigravidas were more likely to have labor induced than multigravidas (38.1% vs. 23.4%, p < 0.001). Compared with women with a normal BMI, obese primigravidas but not obese multigravidas were more likely to have labor induced. In primigravidas who had labor induced, the cesarean section rate was 20.6% (91/442) compared with 8.3% (17/206) in multigravidas who had labor induced (p < 0.001). In obese primigravidas, induction of labor was also more likely to be associated with other interventions such as epidural analgesia, fetal blood sampling and emergency cesarean section. In contrast, induction of labor in obese multigravidas was not only less common but also not associated with an increase in other interventions compared with multigravidas with a normal BMI. CONCLUSIONS: Due to the short-term and long-term implications of an unsuccessful induction in an obese primigravida, we recommend that induction of labor should only be undertaken for strict obstetric indications after careful consideration by an experienced clinician.

Miscarriage after sonographic confirmation of an ongoing pregnancy in women with moderate and severe obesity.

OBJECTIVE: To compare the incidence of spontaneous miscarriage in women with moderate to severe obesity to that in women with a normal BMI after sonographic confirmation of the foetal heart rate in the first trimester. METHODS: Women were enrolled in a prospective observational study at their convenience in the first trimester after an ultrasound confirmed an ongoing singleton pregnancy with foetal heart activity present. Maternal height and weight were measured digitally and BMI was calculated. RESULTS: In the 3,000 women enrolled, the miscarriage rate overall was 3.9% (n = 117). The mean gestational age at enrolment was 11.1 weeks. In the class 2-3 (BMI > 34.9 kg/m(2)) obese primigravidas the miscarriage rate was 11.3% (n = 8) compared with 2.7% (n = 24) in the normal BMI category (p = 0.003), and 3.7% (n = 5) in the class 1 obese category (not significant). In multigravidas, there was no increased rate of miscarriage among class 2-3 obese women compared with multigravidas in the normal BMI category. The mean body composition values showed that primigravidas who miscarried had both increased fat and fat-free masses compared with those who did not, but multigravidas who miscarried had a similar fat mass and fat-free mass with those who did not. CONCLUSIONS: In women with sonographic evidence of foetal heart activity in the first trimester, the rate of spontaneous miscarriage is low. It was increased in moderate to severely obese primigravidas, but was not increased in other obese women compared to women in the normal BMI category.