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This 30-year-old male patient presented with headache. MRI showed a large cystic lesion in the fronto-parietal region. The patient underwent surgery, and the lesion was removed. (Contributed by Dr. Ravindra Kumar Garg.)
Epilepsy & Seizures
Jan. 26, 2021
Neuropharmacology & Neurotherapeutics
Neurotrophic factors play an important role in the survival and maintenance of neurons. There are considerable experimental data on various neurotrophic factors in relation to peripheral neuropathies, which forms the basis of therapeutic interventions. There is some evidence of efficacy of neurotrophic factors in diabetic neuropathy in clinical trials and in anticancer agent-induced peripheral neuropathy, but no further clinical trials in are progress.
Aug. 31, 2021
Childhood Degenerative & Metabolic Disorders
GM2 gangliosidoses are caused by beta-hexosaminidase deficiency. There are 2 major phenotypes: Tay-Sachs disease, caused by beta-hexosaminidase A deficiency, and Sandhoff disease, caused by beta-hexosaminidase A and B deficiency. Carrier detection in risk populations is successful in prevention.
May. 25, 2019
Facioscapulohumeral muscular dystrophy can manifest with protruding scapulae, difficulty raising the arms (often asymmetrically) and lifting objects, and progresses to include truncal muscles as well as lower extremity muscles. About 20% of patients are wheelchair dependent after age 50. Inheritance is autosomal dominant in most with a high incidence of sporadic cases due to de novo mutations.
Dec. 28, 2020
Core myopathies represent the most common form of congenital myopathies, involving early-onset neuromuscular disease that often presents with stable or slowly progressive truncal and proximal weakness. There is a wide clinical spectrum, with severity ranging from mild to severe. Central core disease and multiminicore disease are the most common congenital myopathy forms.
Jun. 29, 2020
Spinal cord astrocytomas are uncommon tumors that present unique diagnostic and therapeutic challenges. Surgical intervention carries significant risk,
Jul. 23, 2019
Behavioral & Cognitive Disorders
Jun. 22, 2021
Stroke & Vascular Disorders
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetically determined disorder that leads to early transient ischemic attacks and strokes. A history of migraine headaches with aura and psychiatric disturbance often precedes the onset of strokes by multiple years. CADASIL is marked by cognitive decline that progresses to dementia.
Nov. 08, 2020