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Severely hypotonic girl with no support of head. Edema of the limbs and face. (Contributed by Dr. Mirja Somer.)
Childhood Degenerative & Metabolic Disorders
Aug. 13, 2021
Epilepsy & Seizures
Intermittent explosive disorder, as described in the DSM-5 (American Psychiatric Association 2013), represents the categorical expression of recurrent,
Mar. 28, 2018
Jan. 30, 2021
Cerebrotendinous xanthomatosis is a rare lipid-storage disease characterized by abnormal deposition of cholestanol and cholesterol in multiple tissues. Typical clinical signs include early onset cataract, tendon xanthomas, and neurologic signs that include progressive adult-onset dementia, psychiatric disturbances, and ataxia. Cerebrotendinous xanthomatosis is a treatable metabolic disease that requires early molecular diagnosis to prevent the dramatic, progressive, and unnecessary neurologic deterioration.
Oct. 21, 2020
Neuropharmacology & Neurotherapeutics
Zonisamide is chemically classified as a sulfonamide and is unrelated to other antiepileptic drugs. It is indicated for the treatment of partial seizures in adults with epilepsy and has many off-label uses. Zonisamide, as monotherapy or adjunctive therapy, has been demonstrated to be safe, effective, and well tolerated as a long-term treatment option in patients with various seizure types.
Apr. 01, 2021
Small fiber neuropathy is a polyneuropathy affecting the small unmyelinated and thinly myelinated sensory and autonomic nerve fibers. Symptoms typically include numbness, paresthesias, and neuropathic pain, and sometimes can include symptoms of autonomic dysfunction. Autonomic symptoms and subclinical autonomic dysfunction are common with small fiber neuropathy. Frequently, no cause for small fiber neuropathy is identified, and it is idiopathic.
Nov. 21, 2020
Peripheral neurolymphomatosis is a rare neurologic manifestation of non-Hodgkin lymphoma in which peripheral nerve infiltration of lymphoma cells is a dominant feature both clinically and pathologically. Affected neural structures include peripheral nerves, spinal nerve roots, cranial nerves, and plexus, commonly with multiple site involvement. Neurolymphomatosis is also reported as a relapse of intravascular large B-cell lymphoma.
Feb. 25, 2021
Stroke & Vascular Disorders
Subarachnoid hemorrhage (SAH), often occurring from rupture of an intracranial aneurysm, typically presents with a sudden severe headache and neck stiffness, and can be complicated by fatal rebleeding, arterial vasospasm producing ischemia, seizures, metabolic derangements, and venous thrombosis. The most common presenting complaint in SAH is the sudden onset of a painful headache followed by pain radiating into the occipital or cervical region. Meningismus develops as blood flows into the spinal subarachnoid space.
Jul. 21, 2021