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Contrast-enhanced CT 1 year following radiosurgery shows no evidence of tumor. (Contributed by Dr. Russell Andrews.)
Epilepsy & Seizures
Jul. 17, 2020
Neuropharmacology & Neurotherapeutics
Mar. 06, 2021
Childhood Degenerative & Metabolic Disorders
Nonketotic hyperglycinemia is an autosomal recessive inborn error of metabolism that commonly presents in the neonatal period with hypotonia, intractable seizures, apneic attacks, and a burst-suppression pattern EEG. No effective treatment is available, and diagnosis is essential for prognostication and genetic counseling. A diagnosis of nonketotic hyperglycinemia can only be confirmed by enzyme or DNA analysis.
Mar. 22, 2020
Jul. 08, 2021
Sleep-related leg cramps are characterized by sudden painful contractions of the lower limb muscles during sleep, typically in the posterior compartment of the leg and foot, which awaken the patient and interrupt sleep. They can be either idiopathic or secondary to metabolic, vascular, or neurologic diseases or medications.
Jul. 22, 2021
Apr. 26, 2021
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
Polymerase gamma is the only human polymerase able to replicate mitochondrial DNA, and mutations in POLG are responsible for a host of illnesses that result in mitochondrial DNA depletion. The infantile and early childhood presentations of POLG disorders include myocerebrohepatopathy and Alpers-Huttenlocher syndrome. Alpers-Huttenlocher syndrome usually causes progressive encephalopathy associated with repetitive seizures, cortical visual loss, pyramidal signs, movement disorders, and a neuropathy.
Nov. 27, 2017