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Tacrine requires a complex dosing improved cognitive function cheap 400 mg tegretol with mastercard. A growing body of evidence regime and has toxic side effects (3) discount tegretol 200mg without a prescription. Systematic reviews indicates that free radical formation is a mediator of the suggest that the drug has a modest but not clinically or excessive lipid peroxidation and cell damage seen in AD. Because administration of shown to have biological activity in acting as scavengers for the drug has been accompanied by a high rate of adverse free radicals. Therefore, Second-generation anticholinesterases include donepezil of the three stabilization agents currently available, only vi- hydrochloride (Aricept, Pfizer) and rivastigmine (Exelon, tamin E is supported by evidence that it can delay deteriora- Novartis). Overall, patients taking the drug show an im- nificant potential to cause gynecologic cancer and currently provement in cognition, global clinical state, and carer rat- is suitable only for women, and antiinflammatory agents ings of activities of daily living. Drugs that have a stabilization effect on the progress of AD are nonsteroidal antiinflammatory agents (NSAIDs), ECONOMIC PERSPECTIVE estrogen, and antioxidant agents. There is good evidence of an inflammatory component in AD, and it is well docu- Given the constraints on health and social care budgets, mented that NSAIDs are protective against the develop- those responsible for the provision and financing of such Chapter 89: Cost-Effectiveness of Therapeutics for Alzheimer Disease 1269 services need to ensure that resources are used efficiently. Two approaches have been used to evaluate the economic conse- Cost-Effectiveness Analysis quences of AD. These are (a) cost-of-illness or burden-of- A cost-effectiveness analysis compares the direct costs of disease studies to assess the costs and consequences of a health and social care resources of two or more interventions disease to society and (b) full economic evaluations to com- with patient outcomes, measured in terms of clinical effec- pare the costs and consequences of alternative health or tiveness. For AD, measures such as years of life with mild social care interventions. Cost-of-Illness Analyses If one intervention, such as a new drug to control symp- toms or delay progression, leads to lower direct costs and From an economic perspective, the aim of cost-of-illness or improved patient outcomes, it is the dominant and pre- burden-of-disease studies is to describe and value the costs ferred option. In other words, it clearly saves resources to and consequences of a disease to society. A cost-of-illness provide care and is more beneficial to the patient. More study should describe and value the direct costs of health often, a new therapy is associated with improved patient and social care for people with the disease. Incremental cost effectiveness describe the mortality and morbidity consequences. These ratios (ICER) provide a measure of the cost of gaining a should be valued in either monetary terms (as indirect and unit of health improvement, such as cost per life-year intangible costs) or by utility-based measures such as qual- gained. The ICER is calculated as follows: (Cost of A ity-adjusted life-years (QALYs). Cost-of-illness studies can be used to estimate the total Cost-effectiveness analysis is limited by the use of effec- burden of disease for a given year. In this approach, known tiveness measures, which may not capture the total impact as the prevalence approach, the costs and health outcomes of health and social care on quality of life or overall well- of all people with the disease in a given year are included. This is particularly important in AD, in which the An alternative approach is to estimate the lifetime costs and impact of the disease and patient care is multidimensional. Cost–utility analysis is similar to cost-effectiveness analysis, but utility is used as the outcome measure. Cost–utility Full Economic Evaluation analysis is used to estimate QALYs. As in cost-effectiveness analysis, incremental cost–utility ratios are calculated to es- Economic evaluations compare alternative health or social timate the cost of producing one additional QALY. In AD, two or more drug Cost–Benefit Analysis therapies to treat the symptoms of the disease or delay pro- gression may be compared for efficacy. The four types of A cost–benefit analysis is based on monetary valuations of economic evaluation are cost-minimization analysis, cost- the morbidity and mortality consequences of disease or in- effectiveness analysis, cost–utility analysis, and cost–benefit terventions. These allow an estimation of the absolute and analysis. The analytic framework chosen depends on the relative net social benefit of intervention. This is calculated perspective of the analysis and the economic questions posed as the monetary value of the consequences of an intervention (19). Any health or social care intervention with a net social benefit greater than zero (i. Cost-Minimization Analysis In a cost-minimization analysis, the direct costs of two or KEY COMPONENTS OF AN ECONOMIC more health care interventions are compared. This form of EVALUATION analysis does not include a formal economic comparison of Perspective of Analysis the outcomes of health and social care. However, the evi- dence that patient outcomes do not differ between interven- Economic studies should consider all costs and outcomes tions must be clear and reliable. If such evidence is not that are a consequence of the illness (cost of illness) or the 1270 Neuropsychopharmacology: The Fifth Generation of Progress health or social care interventions evaluated (economic eval- Measurement and Valuation of Costs uation). For AD, these may include the costs of hospital An economic study should describe and quantify the re- care, community-based health care services, social welfare sources used to produce health and social care and support services, and care provided by voluntary agencies or family for the patients and their carers. People with AD and their families may also from data on the quantity and type of resources used (e. However, what number of hospital-based physician visits, number of hospi- constitutes a cost from one point of view may not be a cost tal admissions, number of days per admission) multiplied from another.

Behavioral differ- munology tegretol 100 mg cheap, and pharmacological dissection tegretol 100mg on-line. Although such ences between neonatal and adult 6-hydroxydopamine-treated approaches have shed light on some relationships between rats to dopamine agonists: relevance to neurological symptoms the OCD spectrum disorders, much further work is re- in clinical syndromes with reduced brain dopamine. J Pharmacol quired before it is possible to make phenomenologic distinc- Exp Ther 1984;231:343–354. Psychopharmacology: the of differential psychobiological mechanisms. In tackling this area of research, it may also be possible 13. Aggressiveness by isolation and brain to integrate neurobiological with psychosocial data; com- serotonin turnover changes in different strains of mice. Neuro- pulsive SIB, for example, may be seen not only in response psychobiology 1979;5:129–135. Endorphins impli- cated in stereotypies of tethered sows. Experientia 1986;42: whereas impulsive behavior that is induced by an environ- 198–199. Future research should see an peptides in self-injurious behavior: dissociation from autonomic expansion in our understanding of the neuropsychopharma- nervous system functioning. DevPharmacol Ther 1989;12: cology of compulsive and impulsive SIB, and thus in our 81–89. The biological basis for self-injury in the ability to intervene effectively with patients who demon- mentally retarded. The effects of psychomotor stimulants on stereotypy and locomotor activity in socially deprived and control rats. Isolation-rearing enhances tail- pinch induced oral behaviour in rats. Stein is supported by a grant from the Medical Research 19. Obsessive- compulsive disorders: etiology, diagnosis, treatment. Interchangeability in intellectually normal adolescents and adults. J Clin Psychiatry of stress and amphetamine in sensitization. Prolonged and progressive effects of Meeting of the International Society for Comparative Psychol- partial isolation on the behavior of macaques monkeys. Adrenergic mechanisms and infant monkeys alters the chemoarchitecture of the brain: I. Pharmacologic control of pemoline-in- mental disorders: biology and Psychopharmacology. Chapter 121: Compulsive and Impulsive Aspects of Self-Injurious Behavior 1755 26. In: ogy and pharmacotherapy of compulsive and impulsive-agres- Simeon D, Hollander E, eds. J Neuropsychiatry Clin ton, DC: American Psychiatric Press, 2001. Biochemical adults with mental retardation: prevalence, phenomenology, evidence of dysfunction of brain neurotransmitters in the Lesch- and comorbidity with stereotypy and self-injury. Self-injurious behavior: a review of in a genetic mouse model of Lesch-Nyhan disease. J Neurosci the behavior and biology of self-mutilation. Am J Psychiatry 14:1164–1175, 1994 1991;148:306–317. Self-injury by people with mental retardation: a com- levels associated with behavioral abnormalities in the de Lange pulsive behavior hypothesis. The efficacy of anti- Prader-Willi syndrome: a double-blind, placebo controlled trial. Clomipramine treat- deletion patients with Prader-Willi syndrome. Hum Genet 1995; ment for self-injurious behavior in mental retardation: a double- 96:638–643. Dopamine transporters of trichotillomania (hair pulling). N Engl J Med 1989;321: are markedly reduced in Lesch-Nyhan disease in vivo. Adouble-blind trial of comparison of clomipramine and desipramine treatment of se- fluoxetine in pathologic skin picking. J Clin Psychiatry 1997; vere onychophagia (nail biting). Self-injurious behavior in the develop- kleinwuchs, kryptochismus und oligophrenie nach myatoniear- mentally disabled: pharmacologic treatment.

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Most of these costs doses have the opportunity to reduce costs substantially with were related to hospitalization buy discount tegretol 100 mg online. The better tolerability of the only the modest inconvenience entailed by breaking the newer versus the older antidepressants might well lead to pills generic tegretol 100mg online. However, higher doses of some medications lead to reductions in these expensive treatment services. A formal determination of whether the higher acquisi- tion price of the newer antidepressants relative to the older Scott W. Bruce Baker: Department of Psychiatry, Yale antidepressants is offset by savings in other areas or increased University School of Medicine, New Haven, Connecticut. AVERAGE WHOLESALE PRICE FOR A 30-DAY SUPPLY OF NEWER ANTIDEPRESSANTS Average Wholesale Price ($)a Strength Antidepressant (mg) Dosing Brand Generic Fluoxetine 10b QD 76. For QD dosing, the lowest cost for 30 pills was used, and 60 pills for BID dosing and 90 pills for TID dosing. When few or no suppliers offered lots of 30, 60, or 90 pills, the lowest-price 100-pill lot was multiplied by 0. Cost-effectiveness is represented as a ratio between sumed in providing the intervention, in this case the treat- direct costs, the numerator, and changes in health status, ment of depression, which includes dealing with side effects the denominator. The relative cost-effectiveness of newer and other consequences. Direct costs are further subdivided versus older antidepressants is represented as the incremen- into four major categories. The first category encompasses tal or marginal difference between the cost-effectiveness ra- changes in the use of health care resources (e. The sec- effectiveness of switching to secondary treatments, postu- ond category of direct costs encompasses changes in the use lated lengths of treatment, and costs and health effects in- of other resources (e. Direct costs are the resources con- Health effects are divided into two major categories. In Chapter 78: Cost-effectiveness of the Newer Antidepressants 1121 the first category, the intrinsic value of changes in health Some of the perspectives commonly discussed or used status, a value is placed on achieving or avoiding a specific include the following: patient or patient/family, employer/ health state. The health state may be characterized by using a payer, individual health care institution (e. The outcomes mea- health), national health care comprehensive system (i. In practice, when intermediate out- In considering whether the available studies suggest that comes are used, the health state and cost-effectiveness ratio newer antidepressants are cost-effective, we will limit our- is sometimes denoted simply in the native units of a single selves to addressing the question fromthe two perspectives domain (e. First, we ask, 'Are newer and value weights are not assigned. In fuller analyses, antidepressants cost-effective as first-line treatment from a weights are assigned to the benefits, and the weights are health care systemperspective? The most com- ate that the studies to be reviewed have utilized multiple mon generic unit is the quality-adjusted life year (QALY). Some studies im- The second category major category of health effects, plicitly or explicitly assume equal effectiveness of newer and indirect costs or productivity effects, refers to resource con- older antidepressants and ask whether the first-line use of sumption attributable to changes in productivity caused by newer antidepressants produces savings to the health care changes in morbidity or mortality. Others model or measure clinical benefit and sectors of health care, even if the specific intervention falls calculate average or incremental cost-effectiveness ratios. In more limited analyses, tions in design and methods. Most of the evidence regarding the categories are applied only in the specialty sector. The Second, we ask, 'Are newer antidepressants cost-effective many types of prices that can be assigned to resources, and as first-line treatment from a global societal perspective? The conclusions suggested by any given cost-effective- We also examine studies reporting relative rates of cost- ness analysis depend heavily on each of the factors we have effectiveness of the newer antidepressants. The conclusions of the analysis also depend on its particularly on the newer antidepressants and updating our perspective—that is, for whomis the treatment cost-effec- previous review (7). The perspective determines which costs, benefits, and by a search of Medline, Current Contents, and outcomes are potentially relevant and what weights are ap- HealthSTAR computer databases and by manual biblio- propriate. Clarity about perspective is critical because in graphic review. Studies available only as abstracts were not most contexts, various combinations of cost and benefits included. Other reviews of this topic have also been pub- are borne by or accrue to different entities. These authors often considered treatment continuation as an efficacy measure, and treat- Efficacy and tolerability studies provide information on ex- ment discontinuation for side effects as a tolerability mea- pected percentages of responders and dropouts, which are sure. A metaanalysis of placebo-controlled comparisons in central parameters in cost-effectiveness calculations, in addi- 49 studies from1966 through 1995 that included an inves- tion to information on side effect burden. Cost-effectiveness tigational antidepressant and a reference antidepressant (15) simulations (see next section) often use data from efficacy and two other metaanalyses (16,17) are not included in metaanalyses. The results of the meta- cyclic antidepressants (TCAs) are now available (Table analyses in Table 78. These metaanalyses include several ses almost uniformly conclude that these two classes of anti- monumental efforts with careful attention to the unbiased depressant are quite similar in regard to efficacy.

Attention deficit hyperactivity disorder and eating disorders order tegretol 200 mg with mastercard. An evaluation of social skills in children with and without prenatal alcohol exposure order 400 mg tegretol with mastercard. Developmental trajectories of child to adolescent externalizing behavior and adult DSM-IV disorder: results of a 24 year longitudinal study. Increased putamen and callosal motor suregion in treatment-naïve boys with Tourette syndrome indicates changes in the bihemispheric motor network. Journal of Child Psychology and Psychiatry and Allied Disciplines 1999; 40: 19-55. Sawyer M, Kosky R, Graetz B, Arney F, Zubrick S, Baghurst P. The National survey of mental health and wellbeing: the child and adolescent component. Australian and New Zealand Journal of Psychiatry 2000; 34:214-220. Brain hyperconnectivity in children with autism and its links to social deficits. From Child to adult: The Dunedin multidisciplinary health and development study. The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. Refining the attention deficit hyperactivity disorder phenotype for molecular genetic studies. Molecular Psychiatry 2006; May 16; [Epub ahead of print]. Psychosis and autism: magnetic resonance imaging study of brain anatomy. Individual variation and longitudinal pattern of genome-wide DNA methylation from birth to the first two years of life. Child abuse and epigenetic mechanisms of disease risk. American Journal of Preventive Medicine 2013; 44:101-107. Use of ADHD drugs in the Nordic countries: a population-based comparison study. FEAR AND ANXIETY Introduction “It remains unclear whether anxiety states are to be better conceptualized as several putatively distinct diagnostic entities or as one broadly conceived syndrome within which there are no clear boundaries between various manifestations of anxiety” Vladan Starcevic (2006). Applies to the total organism, it refers to a state of readiness for activity, and involves increased sensory excitability, muscular tone and sympathetic and endocrine activity. Anxiety Most non-medical dictionaries define anxiety in this manner: “a feeling of worry, nervousness, or unease about something with an uncertain outcome” Non-medical synonyms for anxiety include “worry”. This is consistent with medical definitions: “Anxiety is a general term for several disorders that cause nervousness, fear, apprehension, and worrying. In earlier textbooks anxiety disorders were conceptualized as requiring two sets of symptoms - cognitive (worry) and somatic (tremor, sweating, palpitations, etc. This continues to be the case with the current International Classification of Disorders (ICD 10). However, in the DSM5, somatic symptoms in the form of those mentioned above, need not be present. Normal anxiety Normal anxiety has been applied to states of arousal/anxiety which occur in everyday life, in response to stimuli. It has an adaptive role and is a signal to take action. In normal anxiety the assessment of the danger is appropriate and the action taken is effective. The healthy person who has lost her/his pay-packet will be anxious about paying outstanding bills. Experiencing occasional anxiety is a normal part of life (Mayo Clinic, 2015). Fear is generally regarded to be an extreme form of normal anxiety. If an intruder comes into the house, most healthy persons will be fearful. Pathological anxiety Pathological anxiety is diagnosed when there is excessive assessment of danger. The individual may be unable to make any response, or make an excessive protective response. The person with pathological anxiety may be so disabled that he/she is unable to conduct his/her usual duties, such as prepare a meal, or overestimate a danger and make maladaptive adjustments (the person who is unduly anxious about lifts will have to take the stairs). One perspective is that normal anxiety is a normal response to an abnormal situation (anxiety at being threatened by a mugger) and pathological anxiety is an abnormal response to a normal situation (anxiety at needing to leave the home).

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Functional encopresis Functional encopresis is the passing of faeces in inappropriate places discount tegretol 400mg with mastercard, usually the clothes buy 400 mg tegretol otc. Organic causes and “overflow” incontinence need to be excluded. Treatment includes regular defecation and high fibre diet. Other Psychiatric Disorders Tic disorders A tic is a sudden, recurrent, stereotyped motor movement or vocalization. These may be simple (involving only a few muscles of simple sounds) or complex (involving various muscle groups or phrases). Coprolalia (the uttering of unacceptable words) is of public interest, but occurs in <10% of those with tic disorder. An MRI study of boys with Tourette syndrome (Roessner et al, 2010) shows bilateral increased volume of putamen (which may reflect dopaminergic dysfunction or neuroimmunologic alterations) and sub-region of the corpus callosum (which may be the consequence of daily tic disorder). Management includes behavioural therapy and low dose haloperidol. Depression occurring in children and adolescents may have an atypical presentation with irritability rather than apparent depressed mood. Eating and sleeping may increase rather than decrease. Initial treatment should be psychological, except in severe cases. Mania and schizophrenia are encountered, and early treatment is believed to improve the outcome. Lithium and antipsychotics should be used as necessary. Internet addiction is recently described but diagnostic criteria are yet to be universally accepted. Using functional MRI, internet addiction may be associated with a widespread and significant decrease of functional connectivity in cortico-striatal circuits, in the absence of global changes in brain functional network typology (Hong et al, 2013). Prevalence of autism spectrum disorders – Autism and Developmental Disabilities Monitoring Network, 14 sites, United States. Attention-deficit/hyperactivity disorder without comorbidity in associated with distinct atypical patterns of cerebral microstructural development. Hum Brain Mapp 2013 Aug 1 [Epub ahead of print] Ainsworth M. Patterns of attachment: a psychological study of the strange situation. Lawerence Erlbaum Associates, 1969 ISBN 0898594618 Bowlby J. A secure base: parent-child attachment and health human development. Candidate gene studies in child psychiatric disorders. A cross-national profile of bullying and victimization among adolescents in 40 countries. International Journal of Public Health 2009; 54: 216-224. Risk of separation anxiety disorders among girls: paternal absence, socioeconomic disadvantage, and genetic vulnerability. Prenatal maternal stress programs infant stress regulation. A twin study of anxiety related behaviours in pre-school children. Journal of Child Psychology and Psychiatry 2003; 44:945-960. Meta-analysis of the association between the 7-repeat allele of the dopamine D4 receptor gene and attention deficit hyperactivity disorder. Biological Psychiatry 2009; Apr 30 [Epub ahead of print] Froehlich W, Cleveland S, Torres A, et al. Head circumferences in twins with and without autism spectrum disorders. Pharmacologic intervention for attention-deficit hyperactivity disorder in preschoolers: is it justified? A retrospective foetal ultrasound study of brain size in autism.

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The enormous task of identifying and scoring ing to disease in subsets of the sample tegretol 100mg on-line. In either case tegretol 100mg cheap, both SNPs in large samples, or performing the projected high- pedigree and population-based genetic mapping studies are density genome screening studies, has necessitated the devel- expected to yield more promising results in the future due in opment of high-throughput technologies such as DNA part to the extensive characterization of the human genome chips (6), which are discussed elsewhere in this volume. The HGP, begun in 1990, is a joint effort coordinated by the U. Department of Energy and Principles of Genetic Mapping:The the National Institutes of Health, with the cooperation in Search for Identity by Descent recent years of international entities such as the Wellcome Trust in Great Britain (3). The next subsection describes how innovations in ge- disease gene under study. The principle behind this expecta- netic maps and the structure of genetic mapping studies tion is best illustrated by considering genetically isolated or may eventually lead us to identify the as yet elusive genes founder populations (7,8). A founder population descends for psychiatric disorders. The shared segment includes the markers that sand markers spaced at roughly 1 to 5 centimorgans (cM); flank the disease gene. These markers are said to be linked 1 cM is a unit of genetic distance equivalent to a recombina- to the gene since, because of their close physical proximity, tion frequency between two loci of 1%, i. Detection of linkage is the goal are under construction now, however, as part of the HGP. Alternatively, if alleles at In fact, a major goal of the HGP is to characterize the extent markers co-occur more frequently than expected given the of genetic variation that exists among humans in order to known allele frequencies and recombination fraction be- create a map of several hundred thousand markers to enable tween the markers, they are said to be in linkage disequilib- high-density genome screening studies of complex traits (4). Evidence of LD between markers also indicates Differences in single bases of DNA known as single nucleo- that they are probably close to each other. If LD is observed tide polymorphisms (SNPs) are thought to constitute between the same markers over a region greater than occurs roughly 90% of sequence variation in humans. Occurring at random in a sample of patients, it may indicate that they at an average spacing of 1 SNP per 1,000 base pairs (1 share this segment of DNA IBD and that it harbors a disease kilobase, kb), they will thus constitute the majority of the gene. Detection of LD is a goal of population-based genetic markers in the planned high-density map. For example, a sample of affected individuals separated facilitate detection of population genetic variation in their by roughly 15 generations from their common ancestors 18: Using Human Genomics to Advance Neuropsychopharmacology 233 Pedigree-Based Mapping Studies: Problems and Solutions Linkage analysis of pedigree data has been a very successful method of mapping genes for rare single gene disorders with distinct phenotypes such as cystic fibrosis (11). There are many limitations on the use of linkage analysis for complex traits, however. Linkage analysis is a statistical means of quantifying the likelihood that the observed segregation of marker alleles within a family supports the hypothesis of linkage versus nonlinkage to a disease gene. Traditional link- age analysis is model-based or parametric, meaning that it requires specification of disease inheritance parameters that are not easily estimated for psychiatric disorders, such as the frequency of the disease allele, the genotype specific penetrance, or even the number of genes likely involved. The lack of knowledge of these parameters means that data FIGURE 18. Genetic mapping studies in isolated populations must be analyzed under a number of different models. This take advantage of the fact that many recombination events sepa- process of multiple testing diminishes the strength of statis- rate affected individuals in the present day from a common dis- ease ancestor. However, several strategies have been successfully imple- mented to increase the power of linkage analysis for complex nonpsychiatric illnesses by attempting to reduce genetic het- erogeneity in the patient sample or by using methods of might be expected to share segments around a disease gene statistical analysis that do not require specification of genetic detectable in genome screens using current microsatellite model parameters. In contrast, the Finnish population is a founder population in which pres- ent-day individuals are separated from their common ances- Solution 1: Reduce Genetic Heterogeneity in the tors by up to 100 generations. In this case, shared DNA Sample segments harboring a particular disease gene may be so small Strategies for reducing genetic heterogeneity include study- that one would have to screen the genome with a much ing a small number of large, multiply affected pedigrees denser marker map (e. Such screening studies in a nonhomogeneous popula- rowly defining the phenotype understudy. The premise in tion such as that of the United States, wherein common the former case is that the number of genes contributing ancestors must be located in the very remote past, will re- to a particular disease phenotype within one or a few large quire use of the planned SNP map of around several families may be less than in many small families or the hundred thousand markers in order to detect regions of LD, population at large. This premise is also more likely to hold which, it has been hypothesized, may be as small as 3 kb if the number of disease loci in the population as a whole (10). Furthermore, a multiply affected family may indicate regions that are IBD among a sample of patients may also that the gene or genes involved are highly penetrant (pene- be carried out in extended pedigrees wherein the small num- trance refers to the likelihood that a person who has a disease ber of meioses separating affected individuals leads to a gene will manifest the disease phenotype) and may be easier greater length of IBD sharing around the disease gene. It can be difficult, however, instance, limiting the affected phenotype to include only to find recombinant individuals that will allow refinement the most extreme or distinct form of the illness under study of the candidate interval to a sufficiently small region to has also been critical to the success of mapping studies for facilitate positional cloning. We review the relative strengths complex traits, as such phenotypes are expected to reflect and weaknesses of pedigree- and population-based genetic a more homogeneous genetic etiology than more broadly studies below. Although such a and may be more robust when the true mode of inheritance gene may not contribute significantly to AD in the general is unknown. These methods were originally developed for population, it may still provide clues as to relevant biological samples of affected sibling pairs but have now been modified pathways that might suggest candidate genes for other map- for analysis of other types of relative pairs or whole pedi- ping studies.

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Brain CT shows several subependymal discount 200 mg tegretol otc, periventricular 400 mg tegretol overnight delivery, calcified nodules characteristic of TSC. Subependymal tum ors and cortical tubers are the two characteristic neurologic features of TSC. Calcified nodules are best seen on CT, whereas noncalcified tum ors are best detected by m agnetic resonance im aging. Clinical m anifestations are seizures (including infantile spasm s) occur- ring in 80% of infants, and varying degrees of intellectual disability or behavioral disorder, reported in 50% of children. A B FIGURE 9-34 Tuberous sclerosis com plex (TSC): kidney involvem ent. Contrast- of fat into the tumor, but it is not always possible to distinguish enhanced CT, A, and gadolinium -enhanced T1 weighted m agnetic between AM L and renal cell carcinoma. The main complication of resonance im ages, B, of a 15-year-old wom an with TSC, show AM L is bleeding with subsequent gross hematuria or potentially life- both a large, hypodense, heterogeneous tum or in the right kidney threatening retroperitoneal hemorrhage. O ccasionally, AM L is a benign tum or com posed of atypical blood vessels, polycystic kidneys are the presenting m anifestation of TSC2 in early sm ooth m uscle cells, and fat tissue. W hile single AM L is the m ost childhood: in the absence of renal AM L, the im aging appearance is frequent kidney tum or in the general population, m ultiple and bilat- indistinguishable from ADPKD. Polycystic kidney involvem ent leads eral AM Ls are characteristic of TSC. In TSC, AM Ls develop at a to hypertension and renal failure that reaches end stage before age younger age in fem ales; frequency and size of the tum ors increase 20 years. Though the frequency of renal cell carcinom a in TSC is with age. Diagnosis of AM L by imaging techniques (ultrasonography sm all, the incidence is increased as com pared with that of the gener- [US], CT, magnetic resonance imagine [M RI]) relies on identification al population. Representative examples Endolymphatic sac tumor Rare of various contiguous deletions of the PKD1 and TSC2 genes in Eye/Retinal hemangioblastoma 60 25 (8–70) five patients with TSC and prom inent renal cystic involvem ent (the Kidney size of the deletion in each patient is indicated). Clear cell carcinoma 40 40 (18–70) TSC is genetically heterogeneous. Cysts 30 35 (15–60) The TSC1 gene is on chromosome 9, and TSC2 lies on chromosome Adrenal glands/ 15 20 (5–60) 16 immediately adjacent and distal to the PKD1 gene. Half of affect- Pheochromocytoma ed families show linkage to TSC1 and half to TSC2. Nonetheless, Pancreas 30 (13–70) 60% of TSC cases are apparently sporadic, likely representing new Cysts 40 mutations (most are found in the TSC2 gene). The proteins Microcystic adenoma 4 encoded by the TSC1 and TSC2 genes are called hamartin and Islet cell tumor 2 tuberin, respectively. They likely act as tumor suppressors; their pre- Carcinoma 1 cise cellular role remains largely unknown. VHL is an autosomal-dominant multisystem disorder with a prevalence rate of roughly 1 in 40,000 [32, 35]. It is characterized by the development of tumors, benign and malignant, in various organs. VHL-associated tumors tend to arise at an earlier age and more often are multicentric than the sporadic varieties. M orbidity and mortality are mostly relat- ed to central nervous system hemangioblastoma and renal cell carci- noma. Involvement of cerebellum, retinas, kidneys, adrenal glands, and pancreas is illustrated (see Figures 9-37 to 9-41). The VH L gene is located on the short arm of chrom osom e 3 and exhibits characteristics of a tum or suppressor gene. M utations are now identified in 70% of VH L fam ilies. FIGURE 9-37 Von H ippel-Lindau disease (VH L): central nervous system involve- m ent. Gadolinium -enhanced brain m agnetic resonance im age of a patient with VH L, shows a typical cerebellar hem angioblastom a, appearing as a highly vascular nodule (arrow) in the wall of a cyst (arrowheads) located in the posterior fossa. H em angioblastom as are benign tum ors whose m orbidity is due to m ass effect. Cerebellar hem angioblastom as m ay present with sym ptom s of increased intracranial pressure. Spinal cord involvem ent m ay be m anifested as syringom yelia. O cular fundus, A, and corre- sponding fluorescein angiography, B, in a patient with VH L, shows two typical reti- nal hem angioblastom as. The sm aller tum or (arrow) appears at the fundus as an intense red spot, whereas the larger (arrow heads) appears as a pink-orange lake with dilated, tortuous afferent and efferent vessels. Sm all peripheral lesions are usually asym pto- m atic, whereas large central tum ors can im pair vision. FIGURE 9-39 Gadolinium -enhanced abdom inal m agnetic resonance im age of a Von H ippel-Lindau disease (VH L): kidney involvem ent. Contrast- patient with VH L shows bilateral pheochrom ocytom a (arrows).