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(Contributed by Dr. Charlotte Dravet.)
Childhood Degenerative & Metabolic Disorders
Apr. 12, 2021
Tumefactive demyelinating lesions can present with motor, cognitive, cerebellar, and brainstem dysfunction, as well as headache, seizures, aphasia, cortical sensory loss, or psychosis. They are more likely to cause cortical signs, such as altered mental status and visual field deficits, than typical CNS demyelinating lesions. Two-thirds of patients with this condition subsequently develop multiple sclerosis.
Jan. 07, 2021
Hereditary spastic paraplegias (HSPs) are a hereditary group of disorders with intrafamilial and interfamilial variations in clinical presentations. Most cases present with a slowly progressive gait disturbance of insidious onset. Spasticity of the lower limbs, which can be slightly asymmetrical, occurs in the absence of limb weakness and is often only demonstrable on walking. Additional neurologic features such as cognitive impairment, ataxia, dysarthria, neuropathy, or seizures are seen in more than half of cases and can be the presenting feature.
Nov. 20, 2020
Headache & Pain
Although headache is almost always a biochemical disorder, psychological factors often play a contributory role in headache onset and/or a reactive role in headache maintenance. There is a high level of comorbidity between headache and psychiatric disorders such as depression and anxiety. Psychological interventions such as psychotherapy and biofeedback are not only useful adjuncts to medication therapy, but also permit patients to be actively involved in managing their lifestyles.
Nov. 16, 2020
Ependymomas arise from ependymal cells forming the lining of the ventricles and the central canal. Sensory complaints such as dysesthesia and back pain are the most common presenting symptoms. These symptoms are often nonspecific initially, and a high index of suspicion is necessary to allow early diagnosis of these lesions, especially without trauma history or prior complaints.
Oct. 23, 2017
REM sleep behavior disorder is one of the most common sleep disorders associated with Parkinson disease and often antedates the motoric features of Parkinson disease by years. Daytime sleepiness and fatigue are common complaints in Parkinson disease patients, especially in the elderly and in men. Circadian dysfunction is an important emerging component of sleep dysfunction in Parkinson disease.
Jul. 13, 2021
Sturge-Weber syndrome presents with a facial capillary malformation (port wine birthmark), abnormal blood vessels on the surface of the brain, and glaucoma, with many patients also developing seizures, focal neurologic impairments, visual problems, and cognitive deficits. It is a neurocutaneous disorder caused by a somatic mutation in the GNAQ gene.
Oct. 07, 2020
Chronic pain encompasses a spectrum of clinical scenarios involving both peripheral and central pain syndromes. In this article, the author discusses
Jan. 31, 2021