Results 21 to 30 of about 906,055 (304)
Frontiers in Neurology, 2020 Krabbe disease (KD), also referred to as globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by β-galactocerebrosidase (GALC) deficiency.
Junfei Zhong +8 more
doaj +1 more source
Management of Adult Onset Seizures [PDF]
Mayo Clinic Proceedings, 2017 Epilepsy is a common yet heterogeneous disease. As a result, management often requires complex decision making. The ultimate goal of seizure management is for the patient to have no seizures and no considerable adverse effects from the treatment. Antiepileptic drugs are the mainstay of therapy, with more than 20 medications currently approved in the ...
Amy Z, Crepeau, Joseph I, Sirven
openaire +2 more sources
Frontiers in Neurology, 2021 Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive
Lulu Xu +9 more
doaj +1 more source
Rheumatology International, 2009 Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder characterised by high spiking fever, an evanescent salmon pink rash and arthritis, frequently accompanied by sore throat, myalgias, lymphadenopathies, splenomegaly and neutrophilic leukocytosis.
Bagnari V +4 more
openaire +2 more sources
Adult onset startle epilepsy [PDF]
BMJ Case Reports, 2011 A 45-year-old gentleman presented for classification of spells precipitated by startle. During these spells, he would briefly lose awareness, develop tonic stiffening of his extremities and fall. He had previously been diagnosed with paroxysmal kinesogenic dyskinesia and treated unsuccessfully with clonazepam, levetiracetam and carbamazepine.
Brian Darryl, Moseley, Cheolsu, Shin
openaire +2 more sources
Adult Onset Foveo-Macular Vitelliform Dystrophy Variant
Delhi Journal of Ophthalmology, 2019 Adult onset Foveo-macular vitelliform dystrophy is a relatively uncommon condition and often misdiagnosed. We describe one case of AOFVD, the case underwent a complete ophthalmic examination, fluorescein angiography, systemic evaluation including ...
Anant Prakash Tripathi, Deepa Sharma
doaj +1 more source
Multiple Adult-Onset Xanthogranuloma [PDF]
Indian Dermatology Online JournalPratiksha Mishra +3 more
doaj +2 more sources
Journal of Community Hospital Internal Medicine Perspectives, 2018 Enteropathy-associated T-cell lymphoma (EATL) is a rare disease found in the small bowel and is seen most commonly in patients with refractory celiac disease (RCD). We present a case of an elderly male with celiac disease (CD) diagnosed in childhood with
Nooreen Hussain +4 more
doaj +1 more source
Adult onset xanthogranuloma of the eyelid
American Journal of Ophthalmology Case Reports, 2023 To report a rare case of an eyelid lesion in an adult, with histological features of juvenile xanthogranuloma (JXG).Juvenile xanthogranuloma primarily affects the skin of infants and young children. It infrequently can involve the structures of the eye and orbit and rarely occurs in individuals beyond the second decade of life.
James Wiffen +3 more
openaire +3 more sources
Coats' disease diagnosed in adults: A rare case report
TNOA Journal of Ophthalmic Science and Research, 2017 Coats' disease is a form of exudative retinal vasculopathy, commonly diagnosed in the first to second decades. In adults, it usually exhibits a benign course.
Mohan Sivakami +2 more
doaj +1 more source