Spotlight on Split cord malformation

Split cord malformations, although rare, can cause progressive neurologic impairment if not properly identified and surgically treated. These malformations can be associated with tethered cord, congenital scoliosis, and other spinal dysraphisms. In this article, Dr. Stephen Nelson of Tulane University School of Medicine and Brittany Gerstein of Tulane University describes the various signs and symptoms that are associated with these malformations, the imaging modalities best used for diagnosis, and the surgical treatment options and prognosis. They also provide updated information about the etiology, evaluation, and treatment of this interesting group of disorders.

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Spotlight on Septo-optic-pituitary dysplasia complex

In this article, Dr. Harvey Sarnat of the University of Calgary reviews the clinical, imaging, and neuropathological features and proposed pathogeneses of septo-optic-pituitary dysplasia complex and includes an extensive discussion of the genetic and acquired factors appearing to contribute to this disorder.

Although relatively rare, septo-optic-pituitary dysplasia complex is a highly relevant topic for pediatric neurologists, ophthalmologists, and pediatricians as the identification of visual impairment due to optic nerve hypoplasia requires the physician to consider the possibility of congenital hypopituitarism, a disorder that may be life-threatening if undetected and untreated.

This update includes a review of a study in which intraperitoneal injections of ethanol to pregnant mice heterozygous for a Sonic hedgehog-related gene at embryonic day 8 resulted in the development of optic nerve hypoplasia in the offspring. The results of this work lend support to the notion that ethanol consumption during the first trimester in humans may play a direct role in the pathogenesis of some cases of septo-optic-pituitary dysplasia complex rather than simply representing a casual associative phenomenon.

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Spotlight on Sjogren syndrome: neurologic complications

Neurologic manifestations occur in 20% to 27% of patients with Sjögren syndrome, often preceding the diagnosis of this systemic autoimmune disease. The peripheral nervous system, skeletal muscles, and central nervous system may be involved. Sjögren syndrome has been associated with neuromyelitis optica with positive serum aquaporin autoantibody. The symptoms of neurologic Sjögren syndrome may also mimic multiple sclerosis. HTLV-1 infection and vitamin B12 deficiency can complicate Sjögren myeloneuropathies.

In this article, Dr. Veronica Cipriani of the University of Chicago Medical Center reviews the clinical presentations and postulated pathogenesis of these complications and offers current treatment recommendations.

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Spotligh ton Turcot syndrome

Turcot syndrome is an association of primary neuroepithelial tumors of the central nervous system with familial adenomatous polyposis coli (APC) or hereditary nonpolyposis colorectal cancer. It is a genetic disorder, and more than 178 cases resembling Turcot syndrome have been reported in the literature to date. In this article, Dr. K K Jain describes the pathogenesis and diagnosis of this syndrome. The management of patients with Turcot syndrome takes into consideration both the CNS lesions and colorectal lesions. Early detection of brain tumors in patients with familial adenomatous polyposis coli might improve outcome. Therefore, surveillance for brain tumors is considered worthwhile in these patients.

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Spotlight on Creutzfeldt-Jakob disease

In this article, Dr. Raymond Roos of the University of Chicago Medical Center reviews Creutzfeldt-Jakob disease, a member of the group of diseases known as prion diseases or the subacute spongiform encephalopathies. Creutzfeldt-Jakob disease has a subacute clinical course and distinctive gray matter pathology. This disease is transmissible and is induced by an abnormal form of the prion protein that is extremely resistant to physical and chemical inactivation. The unusual nature of the transmissible agent and the emergence of variant Creutzfeldt-Jakob disease (as a result of ingestion of contaminated beef) have had a significant impact on public health in addition to science and medicine. The most recent epidemiological information suggests there will not be an epidemic of variant Creutzfeldt-Jakob disease. New diagnostic tests, protein misfolding cyclic amplification and real time quaking-induced conversion, and new ideas about treatment of Creutzfeldt-Jakob disease are discussed.

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Spotlight on Hypnic headache

In this article, Dr. Daniel Ackerman and Ilya Bragin of St. Luke’s University Health Network discuss hypnic headache, which is an uncommon primary headache disorder characterized by relatively short-lived attacks of headache that occur only during sleep often with striking circadian rhythmicity. This disorder must be distinguished from other primary sleep-associated headaches, such as cluster headache and migraine, as well as secondary mimics. Once considered strictly a disorder of the elderly, hypnic headache has been reported to begin much earlier in life. As many patients derive significant benefit from preventative treatment, prompt recognition and management is crucial to prevent unnecessary suffering.

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Spotlight on Movement disorder emergencies

Movement disorders are not commonly associated with rapidly evolving, life-threatening clinical syndromes; however, there are several rare syndromes that a neurologist should always consider in the differential diagnosis, such as neuroleptic malignant syndrome, parkinsonism-hyperpyrexia syndrome, acute decompensation of parkinsonism, serotonin syndrome, lethal catatonia, dystonic storm, and malignant Tourette syndrome.

In this article, Dr. Neepa Patel of the Henry Ford Health System Prompt discusses how recognition of these syndromes and implementation of the appropriate therapy can reduce morbidity and mortality.

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Spotlight on Neuromuscular diseases: high cost of new treatments

Neuromuscular diseases are on the forefront of therapeutic development. Three new disease-modifying therapies have been approved in the past 12 months for rare neuromuscular disorders, an unprecedented pace for any area of neurology. The favorable regulatory landscape for orphan disease has provided the impetus to invest in these disorders. However, the cost and intensity of these therapies have provided new challenges to physicians treating these debilitating illnesses.

In this article, Dr. Nicholas Johnson of the University of Utah and Amber Stock and Amy Kaloides of the American Academy of Neurology describe the challenges and identify some solutions moving forward.

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Spotlight on Sleep and depression

Sleep disturbances are common in psychiatric disorders. The relationship between poor sleep and depression is well established. Epidemiologic data suggest that people with psychiatric disorders account for 30% to 40% of those in a community reporting symptoms of insomnia and that depression is the most common psychiatric cause of insomnia. Depression is associated with longer sleep latency, frequent and long awakenings, and early morning awakening associated with poor sleep satisfaction. Sleep disturbance associated with depression sometimes responds to treatment of the underlying depression. Some antidepressants, such as mirtazapine, directly improve sleep quality. Unfortunately, most antidepressants, including the selective serotonin reuptake inhibitors and duloxetine, have the side effect of insomnia. Adjunctive medication is often necessary to treat depression- or antidepressant-associated insomnia.

In this article, Dr. Federica Provini of the University of Bologna and IRCCS Institute of Neurological Sciences of Bologna discusses the evaluation and treatment of sleep disorders associated with depression.

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Spotlight on Hypertensive encephalopathy

Clinical manifestations of hypertensive encephalopathy are often nonspecific and include altered mental status, headache, vision changes, and seizures. The pathophysiology of hypertensive encephalopathy can be regarded as failure of cerebral autoregulation from a sudden elevation of blood pressure that results in endothelial injury and vasogenic edema. Radiographically, hypertensive encephalopathy most commonly presents with evidence of posterior-predominant T2-hyperintense lesions without pathologic contrast enhancement. Although classically these changes are noted in the parietal and occipital lobes, edematous changes can also be found in the deep gray matter, brainstem, or cerebellum or even anteriorly. Clinical symptoms and radiographic findings are most often reversible with prompt blood pressure management. In the case of posterior reversible leukoencephalopathy that is triggered by an offending medication, it is critical to identify and withdraw that agent as well.

In this article, Dr. Catherine Albin and Dr. Sashank Prasad of Partners Neurology, Brigham & Women’s Hospital and Massachusetts General Hospital discuss the manifestations, diagnosis, and management of hypertensive encephalopathy.

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