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(Contributed by Deepa Rajan MD.)
Aug. 12, 2021
X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common form of inherited neuropathy. Patients develop a progressive distal weakness and
May. 30, 2021
Nov. 07, 2020
Childhood Degenerative & Metabolic Disorders
Phenylketonuria is caused by deficient activity of phenylalanine hydroxylase, an enzyme in the intermediary metabolism of the amino acid, phenylalanine, and is one of the most common inborn errors of metabolism. Untreated phenylketonuria produces the gradual onset of profound developmental disability in most, but not all, individuals. Neonatal screening allows for the early detection and treatment of infants with the disorder.
Apr. 01, 2021
Hypersomnolence consists of excessive sleepiness that interferes with daily activities such as reading, driving, working, or interacting with others. Consequences include impaired job performance, diminished intellectual acuity, curbed psychosocial functioning, risk of serious accidents, and grave physical and medical health consequences. It can be caused by various underlying medical disorders.
Dec. 18, 2020
Behavioral & Cognitive Disorders
Cognitive impairment is a common feature of multiple sclerosis and often leads to declines in the ability to initiate and carry out instrumental activities of daily living. Cognitive impairment in multiple sclerosis affects most cognitive domains, but processing speed, visual learning, and short-term memory deficits are most common. Neuropsychiatric symptoms are common, with lifetime prevalence rates of depression approaching 50%.
Jun. 09, 2020
Amyloid myopathy is one of the uncommon manifestations of systemic amyloidosis. The symptoms are usually nonspecific, typically including progressive proximal limb weakness with an increased creatine kinase level, macroglossia, and muscle pseudohypertrophy. It is often misdiagnosed as inflammatory myopathy, even when a muscle biopsy is available. When suspecting amyloid myopathy, Congo red staining and either an immunohistochemical assay or immunofluorescence study should be performed.
Oct. 16, 2020
General Child Neurology
Kawasaki disease is a vasculitis of the medium and small arteries with a propensity to damage the coronary arteries. Classically, it is a triphasic, multisystemic inflammatory syndrome. The acute phase encompasses days 0 to 10 and is characterized by the presence of a persistent fever. The fever is accompanied by conjunctivitis, changes of the oral mucosa, rash, extremity changes, and lymphadenopathy.
Jul. 06, 2020