نتایج جستجو برای: leukodystrophy
تعداد نتایج: 2650 فیلتر نتایج به سال:
BACKGROUND Pol III-related leukodystrophies, including 4H leukodystrophy, are recently recognized disorders that comprise hypomyelination and various neurologic and non-neurologic clinical manifestations. We report the unique neurologic presentation of the micturition dysfunction in Pol III-related leukodystrophy and describe the novel endocrine abnormalities in this entity. CASE PRESENTATION...
BACKGROUND Orthochromatic leukodystrophy with pigmented glia and scavenger cells is a rare leukodystrophy of unknown etiology. This report describes a 42-year-old man with a history of depression, dementia and parkinsonism having the pathological features of orthochromatic leukodystrophy with pigmented glia. METHODS We reviewed the clinical history and pathology of autopsy and brain biopsy ma...
A 29 year old male with onset of globoid cell leukodystrophy at age 14 is described. This is the first case of enzymatically confirmed globoid cell leukodystrophy with onset of symptoms after the age of ten. This patient is unique because of the late onset and slow progression and extends the clinical spectrum of globoid cell leukodystrophy. Globoid cell leukodystrophy is caused by the deficien...
Leukodystrophies are group of inherited disorders caused primarily by defective myelination of the central nervous system with or without peripheral nervous system involvement.1 There are over 30 of Leukodystrophy disorders have been described with various age of onset and clinical presentation but they all share white matter signals in brain MRI.2 Individual Leukodystrophy types are rare-altho...
how to cite this article: ashrafi mr, tavasoli ar. cystic leukoencephalopathy. iran j child neurol. autumn 2014; 8:4(suppl. 1):3-4. pls see pdf.
Introduction. 4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism. Case Presentation. We describe a 28-year-old female who presented with primary amenorrhea at the age of 19. She had a history of very mild neurological and dental abnor...
how to cite this article: ahmadabadi f. neurometabolic registry site in iran (leukodystrophies). iran j child neurol. autumn 2014;8;4(suppl.1):22. pls see pdf.
Mitochromatic Leukodystrophy is a progressive degenerative disorder of white matter. Patients with this disease frequently require anaesthesia for various diagnostic and surgical procedures. These patients pose lot anaesthetic problems like seizures, spasticity, risk aspiration, copious secretions, in addition to other organs dysfunctions. Our case report about provision general anaethesia fema...
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