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T2-weighted axial MRI of a 7-year-old patient with Leigh disease. (Contributed by Dr. Richard Morse.)
Jan. 19, 2021
Aug. 02, 2020
Jan. 11, 2021
Childhood Degenerative & Metabolic Disorders
Fabry disease early symptoms include neuropathic pain in extremities, poor heat and exercise tolerance, angiokeratoma, hypohidrosis, and corneal and lenticular opacities. Progressive cardiac, renal, and cerebral involvement follows, due to the storage of glycolipid in the vascular system. It is an X-linked disorder of glycosphingolipid metabolism that is caused by deficiency of alpha-galactosidase A.
Feb. 23, 2020
Patients with new spinal cord injuries have unique challenges that are best addressed in an inpatient rehabilitation setting. The patient’s functional goals should be based on their level of injury. There are multiple medical issues the physician should evaluate and patients should familiarize themselves with, including pain, spasticity, neurogenic bowel or bladder, pressure injuries, autonomic dysreflexia, and pulmonary compromise.
Jun. 14, 2021
Patients with arboviral encephalitis may have fever, a depressed level of consciousness ranging from drowsiness to coma, seizures, or focal neurologic signs, and sometimes muscle weakness or evidence of spinal cord involvement. Clinical illness usually develops a few days after transmission of the arbovirus from the bite of a mosquito or tick vector. West Nile virus infection is one of the more common such infections in the United States.
Jul. 27, 2020
Suprascapular neuropathy connotes injury to the suprascapular nerve anywhere in its course, from the origin at the brachial plexus to its termination in the infraspinatus muscle. It should be considered in patients with shoulder pain, weakness, and supraspinatus and infraspinatus muscle atrophy. When suprascapular neuropathy is not recognized or treated, the course may be prolonged, and shoulder pain and weakness can become disabling.
Oct. 20, 2020
Muscle and nerve biopsies may provide valuable information for clinicians evaluating patients with neuromuscular conditions. Both open and needle muscle biopsy techniques have been used. Interpretation of muscle and nerve biopsies requires a very careful correlation of the pathological findings with the clinical information and other laboratory investigations. Histological, enzyme histochemical, electron microscopical, and immunohistochemical techniques are used in muscle and nerve pathology.
Aug. 08, 2021