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Post contrast fat-saturated T1-coronal imaging shows patchy enhancement along the pituitary stalk. (Contributed by Dr. Gaurang Shah.)
Jul. 07, 2021
Epilepsy & Seizures
Sep. 22, 2020
Childhood Degenerative & Metabolic Disorders
Biotinidase deficiency, an inherited neurocutaneous disorder, usually presents during childhood with neurologic symptoms, metabolic acidosis, mild hyperammonemia, and organic aciduria. It is screened for in most newborn screening programs in the United States and in many other countries. Individuals with biotinidase deficiency who are treated since birth do not appear to develop physical or cognitive problems.
Dec. 29, 2020
Jan. 03, 2021
Oct. 21, 2020
The clinical examination of a patient with severe brain injury is similar to the evaluation of a comatose patient. Predictors of outcome include the Glasgow Coma Scale and Injury Severity Scores and aspects of the neurologic exam of the comatose patient. Complications include all sequelae of prolonged coma and recumbency, and systemic trauma, including systemic infection, deep venous thrombosis, electrolyte abnormalities, fat embolism syndrome, stress ulceration, and anemia.
Aug. 22, 2021
The congenital muscular dystrophies are a heterogeneous group of inherited, mostly autosomal recessive neuromuscular disorders. LAMA2 (merosin) is a component of the basal lamina of skeletal muscles and is associated with the most frequent form of congenital muscular dystrophy. The extent of laminin-alpha2 deficiency dictates disease severity in most cases. Morbidity and mortality are usually due to secondary complications of underlying weakness.
Aug. 03, 2020
Epilepsy with continuous spike-and-waves during sleep syndrome can be characterized by the following features: (1) epilepsy, with focal and apparently generalized seizures; (2) neuropsychological impairment with global or selective regression of cognitive functions; (3) transient motor impairment with ataxia, dyspraxia, dystonia, or unilateral deficits; (4) typical EEG findings with diffuse or more or less unilateral electrical status epilepticus during slow sleep occurring in up to 85% of slow sleep.
Jul. 26, 2021