Spotlight on Aicardi-Goutieres syndrome

In this article, Dr. Peter Barth of the University of Amsterdam discusses Aicardi-Goutieres syndrome, a rare, genetically determined encephalopathy. The main features are progressive microcephaly associated with basal ganglia and white matter calcifications, leukodystrophy, cerebral atrophy, and variable increase of lymphocyte count in the cerebrospinal fluid. The cytokine interferon alpha is elevated in cerebrospinal fluid and blood.

There are 2 main clinical presentations: an early-onset neonatal form highly reminiscent of congenital infection and a later-onset presentation, occurring several months after normal development. Recessive mutations in any of 7 genes involved in the removal of redundant endogenous or exogenous DNA, RNA, or DNA/RNA hybrids can cause Aicardi-Goutieres syndrome.

Progress started with the pioneering work of Pierre Lebon, who discovered the increased interferon alpha in the cerebrospinal fluid of the patients. The last decade has seen the discovery of genes associated with Aicardi-Goutieres syndrome and the discovery of the basic pathogenic role of alpha-interferon by Yannick Crow, Gillian Rice, and many others.

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Spotlight on Epileptic encephalopathy with continuous spike-and-wave during sleep

In this clinical summary, Dr. Natialio Fejerman of Hospital de Pediatria JP Garrahan in Buenos Aires, Argentina emphasizes the clinical and EEG features of epileptic encephalopathy with continuous spike-and-wave during sleep and the occurrence of secondary bilateral synchronies as a mechanism for the generalization of perviously focal epileptic discharges. In addition, the summary points out that this syndrome may appear in children, starting first with idiopathic focal epilepsies, and also in children with prenatal cerebral lesions. Language development and impairment in children and adolescents with the disorder is also discussed.

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MedLink Neurology authors are always at work to bring you broad and up-to-date coverage of neurology topics. We are pleased to highlight clinical summaries that have been recently added or updated and to introduce the authors who write these authoritative articles. We hope you enjoy these overviews and appreciate the contributions of our more than 450 authors who keep MedLink Neurology the premier information resource for neurologists.

Spotlight on Polymicrogyria

In this clinical summary, Dr. Luis Bello-Espinosa of the University of Calgary and Alberta Children’s Hospital discusses polymicrogyria, a cerebral malformation of cortical development with excessive folding of small, fused gyri with abnormal cortical lamination. Polymicrogyria manifests as a spectrum of clinical signs and symptoms ranging from no manifestations to severe encephalopathy or cognitive impairment. The underlying etiologies are variable, including genetic disorders and vascular insults, resulting in a wide variety of neurologic signs and symptoms. Three-dimensional magnetic resonance imaging is the most reliable imaging modality for diagnosis and evaluating the extent of disease. Surgical resection of epileptogenic foci may provide good seizure control, with better developmental outcome in children.

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MedLink Neurology authors are always at work to bring you broad and up-to-date coverage of neurology topics. We are pleased to highlight clinical summaries that have been recently added or updated and to introduce the authors who write these authoritative articles. We hope you enjoy these overviews and appreciate the contributions of our more than 450 authors who keep MedLink Neurology the premier information resource for neurologists.

Spotlight on Susac syndrome

Susac syndrome presents with a triad of retinal arterial occlusion, deafness, and encephalopathy. Since its recognition in 1973, approximately 146 cases have been reported in the literature. In this clinical summary, Dr. K K Jain, a neurology consultant in Basel, Switzerland, describes the clinical features, pathology, and diagnosis of this syndrome as well as atypical presentations. The pathological findings include microinfarcts in the territories of end arterioles of the brain, retina, and inner ear. MRI plays an important role in demonstrating the CNS lesions. Management of Susac syndrome is also discussed.

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MedLink Neurology authors are always at work to bring you broad and up-to-date coverage of neurology topics. We are pleased to highlight clinical summaries that have been recently added or updated and to introduce the authors who write these authoritative articles. We hope you enjoy these overviews and appreciate the contributions of our more than 450 authors who keep MedLink Neurology the premier information resource for neurologists.

Spotlight on PEHO

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome was first described in Finland, but several patients have been reported from other European and non-European countries. The main features of this autosomal recessive disorder are infantile spasms, severe hypotonia with absence of developmental milestones, blindness, subcutaneous edema of hands and feet, and characteristic dysmorphic features. Recent data suggest the presence of one major locus in the Finnish families with this disorder. In this update, Mirja Somer MD, Medical Geneticist at Norio Centre, Rinnekoti Foundation, and Adjunct Professor of Clinical Genetics at Helsinki University describes the main clinical diagnostic findings, emphasizing the early progressive brain atrophy, which starts in the cerebellum and brainstem.

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MedLink Neurology authors are always at work to bring you broad and up-to-date coverage of neurology topics. We are pleased to highlight clinical summaries that have been recently added or updated and to introduce the authors who write these authoritative articles. We hope you enjoy these overviews and appreciate the contributions of our more than 450 authors who keep MedLink Neurology the premier information resource for neurologists.

Spotlight on Hemorrhagic shock and encephalopathy syndrome

In this clinical summary, Dr. Elizabeth Sekul of the Medical College of Georgia discusses hemorrhagic shock and encephalopathy syndrome (HSES), a rare disorder that primarily affects infants younger than 1 year of age. It is often fatal despite intensive medical care, and rarely do those who survive escape severe neurologic impairment. There are no biological markers for HSES. The diagnosis rests on the recognition of its clinical and laboratory abnormalities. The hallmarks of the disorder are abrupt onset of high fever, shock, encephalopathy, seizures, coagulopathy, and renal and hepatic dysfunction. Laboratory abnormalities, including progressive decline in hematocrit and platelets and rising transaminases and creatine phosphokinase, are noted and tend to peak in the first 36 hours. Severe acidosis is typical at presentation. Onset tends to be at night to early morning hours and more often in the winter months. Overall incidence is unknown.

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MedLink Neurology authors are always at work to bring you broad and up-to-date coverage of neurology topics. We are pleased to highlight clinical summaries that have been recently added or updated and to introduce the authors who write these authoritative articles. We hope you enjoy these overviews and appreciate the contributions of our more than 450 authors who keep MedLink Neurology the premier information resource for neurologists.

Spotlight on West syndrome

West syndrome is a severe epileptic encephalopathy occurring in infancy that comprises specific seizure types consisting of spasms and interictal EEG pattern known as hypsarrhythmia, together with psychomotor regression. It may result from various causes, but maturation of the brain is a crucial component. Early identification and proper treatment are required, although not sufficient, to optimize the outcome and avoid long-term disabilities. This updated clinical summary includes information on classification, recently identified genetic causes, animal models, drug treatments, and outcome.

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MedLink Neurology authors are always at work to bring you broad and up-to-date coverage of neurology topics. We are pleased to highlight clinical summaries that have been recently added or updated and to introduce the authors who write these authoritative articles. We hope you enjoy these overviews and appreciate the contributions of our more than 450 authors who keep MedLink Neurology the premier information resource for neurologists.