Search

The histiocytoses are a group of rare disorders characterised by the accumulation of neoplastic or non- neoplastic activated histiocytes in various tissues. Phenotypes vary widely from cutaneous lesions or lymphadenopathy that regress spontaneously to disseminated disease with poor prognosis. Neurological symptoms can be a presenting feature or appear during the course of disease. We present a challenging diagnostic and management case of Rosai- Dorfman- Destombes disease in a 48- year- old woman with a relapsing, partially steroid- responsive syndrome comprising patchy, non- length- dependent radiculoneuropathy with diffuse pachymeningitis and widespread systemic disease, and recent dramatic response to novel mitogen- activated kinase pathway inhibition. We discuss the clinical characteristics, diagnosis, recent breakthroughs in pathogenesis and emerging treatment options for Rosai- Dorfman disease and for the histiocytoses with neurological sequelae, including Langerhans cell histiocytosis and Erdheim- Chester disease. [ABSTRACT FROM AUTHOR]

A 41-year- old female presented with dysgeusia, dry eyes, nyctalopia with progressive visual field constriction (due to autoimmune retinopathy) and gastrointestinal symptoms (due to ulcerative colitis). She was subsequently admitted to intensive care with a myasthenic crisis, and CT of the thorax demonstrated a thymoma. Following thymectomy and adjuvant radiotherapy, she has remained in complete remission from her ulcerative colitis and myasthenia gravis, her retinopathy has stabilised and there has been no thymoma recurrence over a 10-year postoperative period. There was a brief relapse of her dysgeusia (causing weight loss) and dry eye symptoms 3 years after her surgery, which resolved 8 months later. While the association of thymomas with paraneoplastic syndromes (PNS) is well established, it is unusual to present with multiple PNS, and some of these have only been documented in sparse case reports to date. Thymectomy played a crucial role in improvement and stabilisation of her PNS. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the article "Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy" by H. Houlden, M.M. Reilly and S. Smith published in a 2009 issue of the journal "Eye."

The article focuses on the autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) phenotype, childhood neurological disorder. It discusses the features of ARSACS including distal amyotrophy, extensor plantar responses and hypermyelinated retinal nerve fibers. It further presents a report of a patient suffering from cerebellar ataxia, spasticity and neuropathy showing additional features of supranuclear gaze palsy, myoclonus and epilepsy.

The article offers information on the study on a 39-year-old woman with Kjellin syndrome along with progressive leg weakness and spacity. The study found that the patient had mild ptosis when examined and optical coherence tomography showed retinal nerve fiber layer thinning along with retinal pigment epithelium lesions. The study suggests that the life expectancy of patients with Kjellin syndrome was 30-40 wherein physiotherapy and baclofen could be applied for treatment.

This report describes an unusual case of a middle-aged man who suffered sub-acute visual loss rendering him blind over a period of 4 weeks, associated with the diagnosis of a right temporal lobe World Health Organization grade 4 astrocytoma (glioblastoma multiforme). Chronic papilloedema had been diagnosed at presentation, and this persisted after his debulking surgery, but there was no radiological evidence of direct involvement (by compression or infiltration) of the visual pathways. This case report describes the sub-acute on chronic nature of his visual loss, and suggests possible causes and preventative measures for visual loss in these patients. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented to an article by L. Williams, V. Sharma, and T. Downs in the January 5, 2008 issue.