Sunil Basnet MD-3 Neurology 06/29/12

Category
Congenital and developmental

Examples
Anencephaly Chiari Malformations Meningomyelocele Polymicrogyria Pontoneocerebellar Hypoplasia Enzymopathies Congenital hypothyroidism Phenylketonuria Homocystinuria Lysosomal storage diseases Aminoacidurias Adrenoleukodystrophy Hartnup disease Mitochondrial disorders

Temporal profile or typical manifestations

Present at birth Often multiple The earlier the disruption, the more severe the malformation

Hereditary

Most of the enzymopathies become manifest in infancy and childhood, only a few appear as late as adolescence or adult life Many damage the nervous system so severely that survival to adult years and reproduction are impossible, and some cause death in utero A neurologic disorder of similar type in a sibling or close relative Recurrent non-convulsive episodes of impaired consciousness Some combination of unexplained symmetrical or generalized spastic weakness, cerebellar ataxia, extrapyramidal disorder, deafness, or blindness Progression of a neurologic disease measured in weeks, months, or a few years Mental retardation in a sibling or close relative Any age Abrupt onset Traumatic syndromeconsisting of headache, giddiness, fatigability, insomnia, and nervousnesswhich may appear soon after or within a few days of the injury An acute inflammation, presenting with a sudden onset and rapid progression of clinical symptoms or a slowly evolving inflammation over several weeks, months, or even years, presenting a protracted clinical course Complete recovery or neurologic and psychiatric deficits

Trauma

Cerebral Concussion Hematoma Subarachnoid hemorrhage Subdural hygroma

Infectious

Purulent leptomeningitis Meningococcus Meningitis Anthrax Meningoencephalitis Abscesses Tuberculous Granulomatous Meningitis

Sunil Basnet MD-3 Neurology 06/29/12

Acute Aseptic Meningitis, Encephalitis, and Myelitis Acute RNA Viral Infections Herpesvirus Infections Progressive Multifocal Leukoencephalopathy (PML) Stroke Polyarteritis nodosa SLE Cerebral infarct Cerebral hemorrhage Common among elderly/ less common in pediatric population Sudden onset and rapid progression Due to Sudden alteration of cerebral blood flow in an arterial territory Seizures are almost never the premonitory, first, or only manifestation of a stroke Occur at all ages, but the incidence is higher in childhood and late adulthood With few exceptions, a male prevalence is noted In children - more common in the infratentorial, and in adults - the supratentorial compartment.

Vascular

Neoplastic

Astrocytoma Medulloblastoma Ependymoma Meningiomas Germinoma Schwannomas Craniopharyngioma Dermoid Cysts Lipoma Hemangiomas Leukodystrophy Multiple sclerosis Neuromyelitis optica (Devics disease) Acute disseminated encephalomyelitis Progressive multifocal leukoencephalopathy

Demyelinating

Myelin and/or oligodendroglia affected with relative sparing of axons Infiltration of inflammatory cells in a perivascular and particularly paravenous distribution A distribution of lesions that is primarily in white matter, either in multiple small disseminated foci or in larger foci spreading from one or more centers.

Nutritional

Wernicke Korsakoff syndrome Subacute combined degeneration of the spinal cord Nutritional polyneuropathy

Present clinically in a symmetrical manner

Sunil Basnet MD-3 Neurology 06/29/12

Tobacco-alcohol amblyopia Central pontine myelinolysis Corpus callosum demyelination

Metabolic

Hypoxic encephalopathy Hypercapnoeic encephalopathy Hypo-/Hyperglycemic encephalopathy Hepatic encephalopathy Uremic encephalopathy

Clinical features are relatively stereotyped

Toxic Degenerative

Neuroleptic malignant syndrome

Spectrum of disorders most potentially reversible on withdrawal of the causal agents Affect all ages from infancy on, but chiefly during midlife or later Lack of known etiology Characterized by selective neuronal loss Gradually progressive, symmetric, affect one or several specific systems of the nervous system Neurons die generally by apoptosis They begin insidiously, after a long period of normal nervous system function, and pursue a gradually progressive course that continues for many years, often a decade or longer Many are associated with accumulation of protein aggregates that are resistant to degradation

Alzheimers disease Parkinsons disease Ataxia telangiectasia (Louis-Bar Syndrome) Friedrichs ataxia Amyotrophic lateral sclerosis Dementias Hereditary Spastic Paraparesis Huntingtons Disease Multiple system atrophy