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Interictal EEG showed left anterior temporal spikes (F7 maximal field) (arrow). (Contributed by Dr. Andro Zangaladze.)
Nov. 24, 2020
Pompe disease is a glycogen storage, lysosomal storage, and neuromuscular disease that has a wide clinical spectrum, with 2 main categories: infantile-onset (IOPD) and late-onset Pompe disease (LOPD). IOPD is further divided into classic and nonclassic based on the presence of a severe or less severe cardiomyopathy in the first year of life, respectively. LOPD is defined as patients with no cardiac involvement in the first year of life, with an age at diagnosis and a clinical presentation ranging from infancy to as late as the sixth decade of life.
Aug. 07, 2020
Behavioral & Cognitive Disorders
Jun. 12, 2020
CLIPPERS presents with subacute brainstem symptoms including ataxia, diplopia, dysarthria, and altered facial sensation. Radiological features include punctate or curvilinear perivascular gadolinium enhancement in the pons and adjacent cerebellum. It is believed to be inflammatory in nature.
Jan. 04, 2019
Rocky Mountain spotted fever is a tickborne illness that often has an initial clinical presentation similar to a viral "flu-like" syndrome.
Jun. 16, 2016
Childhood Degenerative & Metabolic Disorders
Gaucher disease is a storage disorder caused by mutations in the GBA1 gene. Neuronopathic Gaucher disease has a very wide clinical spectrum--from congenital and early infantile Gaucher disease type 2 to very mild with horizontal supranuclear gaze palsy as the only neurologic abnormality and normal or even superior intelligence. GBA1 mutations are a risk factor for developing neurodegenerative diseases.
Dec. 28, 2019
Cryptococcal meningitis is the most common fungal meningitis and is commonly observed in AIDS. Other immunosuppressive conditions also predispose to its development, such as corticosteroid administration; however, it may also be seen in immunologically normal persons. Headache is the most common of symptoms but it is not universally present, and papilledema occurs in less than one third of persons. On occasion, cryptococcal infection of the CNS presents as mass lesion in the brain.
Nov. 08, 2020
Neurogenetics encompasses heritable disorders in all the subspecialties of neurology and is an ever-growing field. New technologies such as next-generation
Oct. 07, 2019