Cerebral involvement in pseudoxanthoma elasticum: Case report

Pseudoxanthoma elasticum (PXE) is a rarely seen connective tissue disease which is characterized by progressive fragmentation and calcification of elastic fibers. Generally it is characterized by cutaneus, ocular and vascular system involvement and neurological complications are usually secondary to vascular insufficiency. 43 years old male patient had a progressive dysarthria, ataxia and vision loss which started many years ago referred to our clinic. Loose skin was seen on bilateral his axillar region and neck with atrophic, pale viola macular lesions on his body. There was "angiloid streaks" on fundus examination and skin biopsy showed calcified degenerated elastic fibers on middle and deep dermis. Diffuse white matter lesions were determined on cranial imaging. To keep in mind the diagnosis of rare diseases would be helpful in early diagnosis and treatment, reducing and even preventing systemic complications

Benign episodic unilateral mydriasis (case report)

Benign episodic unilateral mydriasis is a descriptive condition with recurrent unilateral mydriasis in adults, especially women with migraine. We report a 20 year-old male presenting with paroxysmal left pupil mydriasis and diagnosed as benign episodic unilateral mydriasis after exclusion of other reasons causing anisocoria

Testing of the excitability of a peripheral nerve in migraine patients

Disorders in the functioning of ion channels, especially of Na+ channels, are at present suggested to play a role in the pathogenesis of migraine. Thus, migraine can be considered a channelopathy. The following question, however, remains open: Are such disorders related exclusively to the brain or also to the peripheral nervous system? In our study, we compared the excitability characteristics of the n. medianus in migraine patients and control-group subjects and also tried to find possible differences between subgroups of the patients suffering from migraine with or without aura. For this purpose, we measured the strength-duration time constant and rheobase using stimulation of the above nerve and EMG recording from the m. abductor pollicis brevis. We found no statistically significant differences in the indices of excitability of the peripheral nerve between the groups of control subjects and migraine patients and also between the above-mentioned subgroups of patients. © 2012 Springer Science+Business Media, Inc

Development of reversible posterior leukoencephalopathy syndrome after cyclophosphamide treatment in a patient with lupus nephritis

Renal involvement in systemic lupus erythematosus is a frequent and serious complication that significantly increases morbidity and mortality. Despite all studies and usage of new drugs, treatment of lupus nephritis continues to be a problem. Diffuse proliferative lupus nephritis has a poor prognosis and aggressive treatment must be undertaken. Cyclophosphamide is commonly used in treatment despite its side effects. Reversible posterior leucoencephalopathy syndrome is a clinico-radiological syndrome manifested by blood pressure elevation, headache, visual disturbances, confusion, seizures and sometimes focal neurological signs that can develop due to usage of cytotoxic drugs. We present a case of lupus nephritis in which reversible posterior leucoencephalopathy syndrome developed after intravenous cyclophosphamide administration and recovered spontaneously by symptomatic treatment in this article

Central nervous system infections and diagnostic brain biopsy: Two case reports

Cerebral biopsy is an invasive technique with limited, specific indications in view of the potential risk of complications. Brain biopsy, aside from the direct sampling of a suspected neoplasm, is often diagnostic in cases of granulomatous angiitis, some forms of encephalitis, subacute spongioform encephalopathy, and a number of other rare diseases. Two cases who had a central nervous system infection and had undergone diagnostic brain biopsy in our clinic will be discussed by reviewing the literature. Copyright © 2005 by Türkiye Klinikleri

Speech, language and swallowing impairments in functional neurological disorder: a scoping review.

BACKGROUND Functional neurological disorder (FND) is common across healthcare settings. The Diagnostic and Statistical Manual of Mental Disorders states that speech and swallowing symptoms can be present in FND. Despite this, there is a dearth of guidelines for speech and language therapists (SLTs) for this client group. AIMS To address the following question in order to identify gaps for further research: What is known about speech, language and swallowing symptoms in patients with FND? METHODS & PROCEDURES A scoping review was conducted. Six healthcare databases were searched for relevant literature: CINAHL PLUS, MEDLINE, ProQuest Nursing and Allied Health Professionals, Science Citation Index, Scopus, and PsychINFO. The following symptoms were excluded from the review: dysphonia, globus pharyngeus, dysfluency, foreign accent syndrome and oesophageal dysphagia. MAIN CONTRIBUTION A total of 63 papers were included in the final review; they ranged in date from 1953 to 2018. Case studies were the most frequent research method (n = 23, 37%). 'Psychogenic' was the term used most frequently (n = 24, 38%), followed by 'functional' (n = 21, 33%). Speech symptoms were reported most frequently (n = 41, 65%), followed by language impairments (n = 35, 56%) and dysphagia (n = 13, 21%). Only 11 publications comment on the involvement of SLTs. Eight papers report direct speech and language therapy input; however, none studied the effectiveness of speech and language therapy. CONCLUSIONS & IMPLICATIONS Speech, language and swallowing symptoms do occur in patients with FND, yet it is a highly under-researched area. Further research is required to create a set of positive diagnostic criteria, gather accurate data on numbers of patients with FND and speech, language or swallowing symptoms, and to evaluate the effectiveness of direct speech and language therapy involvement