نتایج جستجو برای: neurological manifestations

تعداد نتایج: 123226  

2018
Anna Członkowska Tomasz Litwin Karolina Dzieżyc Michal Karliński Johan Bring Carl Bjartmar

BACKGROUND Wilson disease is a rare genetic disorder in which impaired copper excretion results in toxic copper levels and tissue damage. Manifestations are primarily hepatic and/or neuropsychiatric, with a variety of neurological phenotypes. The aim of this study was to characterize neurological signs of Wilson disease in newly diagnosed patients and to determine whether they correlated with d...

2013
Anton Orlin Dolan Sondhi Matthew T. Witmer Matthew M. Wessel Jason G. Mezey Stephen M. Kaminsky Neil R. Hackett Kaleb Yohay Barry Kosofsky Mark M. Souweidane Michael G. Kaplitt Donald J. D’Amico Ronald G. Crystal Szilárd Kiss

BACKGROUND Late infantile neuronal ceroid lipofuscinosis (LINCL), one form of Batten's disease is a progressive neurodegenerative disorder resulting from a CLN2 gene mutation. The spectrum of ophthalmic manifestations of LINCL and the relationship with neurological function has not been previously described. METHODS Patients underwent ophthalmic evaluations, including anterior segment and dil...

Biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. Biotinidase enzyme is essential for release of biotin from apoenzymes. Absence of biotinidase is an autosomal recessive trait with a prevalence of 1 in 60000. Clinical manifestations of biotinidase deficiency include dermatitis, alopecia, seizures, hypotonia, developmental delay, hearing loss, visual impa...

Journal: :The Lancet. Neurology 2010
Marios Hadjivassiliou David S Sanders Richard A Grünewald Nicola Woodroofe Sabrina Boscolo Daniel Aeschlimann

Gluten sensitivity is a systemic autoimmune disease with diverse manifestations. This disorder is characterised by abnormal immunological responsiveness to ingested gluten in genetically susceptible individuals. Coeliac disease, or gluten-sensitive enteropathy, is only one aspect of a range of possible manifestations of gluten sensitivity. Although neurological manifestations in patients with e...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1957
H ASKENASY A BEHMOARAM

Haemangioma of the vertebrae is believed to be extremely rare and of little clinical importance, because most often it is detected as an incidental radiological finding in patients examined for complaints thought to be related to other diseases. However, haemangiomata of the vertebrae have been found on examination in large necropsy series in a much larger proportion than suggested by clinical ...

Journal: :Stroke 1973
J E Greenlee G L Mandell

: Neurological Manifestations of Infective Endocarditis: A Review • Neurological complications are seen in patients with bacterial endocarditis and their incidence has not changed with the advent of antibiotics. Patients with abnormal neurological signs have a grave prognosis. Neurological sequelae of bacterial endocarditis are most often due to septic embolization producing ischemia and/or sup...

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