Pathology Flashcards
A 5-year-old girl is brought to the physician by her parents because of difficulty at school. She does not listen to her teachers or complete assignments as requested. She does not play or interact with her peers. The girl also ignores her parents. Throughout the visit, she draws circles repeatedly and avoids eye contact. Physical and neurological examination shows no abnormalities. Which of the following is the most likely diagnosis?
Early intervention programs can improve communication and social skills for patients with this disorder.
Attention-deficit/hyperactivity disorder
3%
Like the girl in this vignette, patients with ADHD typically present with difficulty paying attention and have poor school performance. However, ADHD is furthermore characterized by impulsiveness and hyperactivity, which are not present in this patient. Moreover, poor social skills (e.g., reduced eye contact), repetitive/stereotyped behavior, and fixated interests suggest a different diagnosis.
Oppositional defiant disorder
6%
Oppositional defiant disorder is characterized by anger, irritable mood, and defiant behavior towards figures of authority, which may also cause problems at school for ≥ 6 months. Although this patient does not listen to her teachers or her mother, she does not argue with or act out against them.
Age-appropriate behavior
1%
Children with normal language development speak in three-word sentences by age 3 and recount complex stories by age 4. This patient’s refusal to speak with her parents and peers is not normal behavior for a 5-year-old child. Being inattentive, ignoring what other people say, preferring to play alone, and repetitive activity might be age-appropriate to a certain degree. This case, however, exceeds normal levels of such behavior.
Autism spectrum disorder
84%
Although clinical presentation varies widely, autism spectrum disorder (ASD) is characterized by impairment in social interaction and restrictive patterns of behavior or interests. This patient’s trouble communicating, together with her inattentiveness, refusal to speak and make eye contact, and her attraction to a repetitive activity (drawing circles), is typical of patients with ASD. While the exact cause is unknown, twin studies strongly suggest a genetic predisposition.
Childhood disintegrative disorder
3%
Patients with childhood disintegrative disorder initially meet their developmental milestones before losing them again over the course of a few months. This patient’s history does not describe developmental regression.
Rett syndrome
2%
Patients with Rett syndrome initially meet developmental milestones before experiencing a progressive loss of cognitive and fine motor skills beginning at 7–24 months of age. Pronounced verbal disability is common, and patients may exhibit characteristic handwringing. Although this patient refuses to speak, her fine motor skills are developmentally appropriate and her history does not describe developmental regression or distinctive handwringing.
A 9-year-old boy is brought to the physician by his mother because of poor performance in school for the last year. He has difficulty sitting still at his desk, does not follow the teacher’s instructions, and frequently blurts out answers in class. He often gets sent outside the classroom for failing to work quietly. At hockey practice, he does not wait his turn and has difficulty listening to his coach’s instructions. His mother reports that he is easily distracted when she speaks with him and that he often forgets his books at home. Physical examination shows no abnormalities. Which of the following is the most appropriate pharmacotherapy?
These findings meet diagnostic criteria for attention deficit hyperactivity disorder (ADHD). Both stimulants and nonstimulants are approved to treat this condition.
Atomoxetine
84%
Atomoxetine is a nonstimulant drug for treating ADHD and is prescribed for patients who cannot tolerate stimulants, such as methylphenidate. Atomoxetine carries a black-box warning for increased suicidal ideation in children and adolescents, so treatment must be monitored closely. Other nonstimulant drugs approved for the treatment of ADHD include clonidine and guanfacine.
A 15-year-old boy is brought to the physician because his parents are increasingly desperate about his behavior. Last week, he was caught smoking marijuana outside a mall by the police. Over the past year, he has been suspended from school 3 times for bullying younger classmates, stealing his friend’s wallet, and breaking the windows of the school cafeteria. He says that his classmates deserve to be bullied “because they are wimps.” He is a high school sophomore, and his performance at school is poor. His teachers report that he regularly loses his temper and often skips classes. When asked about his school performance, he responds, “My classes are so lame. I would much rather hang out with my friends.” His mother says, “He is such a troublemaker. I don’t know what to do with him anymore.” On mental status examination, attention and concentration are poor. Which of the following is the most likely diagnosis?
This patient presents with aggressive behavioral patterns that violate the basic rights of others and socially accepted, age-appropriate norms. The disorder he has is more common among boys and is frequently associated with other behavioral conditions.
Oppositional defiant disorder
11%
Oppositional defiant disorder (ODD) is characterized by anger, irritable mood, and defiant behavior toward figures of authority lasting at least 6 months which may also cause problems at school. During early childhood, the disorder more commonly affects boys, whereas after puberty there is an equal incidence in boys and girls. While aggression and resistance in children with ODD are caused by the feeling of being controlled, this patient shows behavior that violates the rights of others (e.g., bullying, theft, and destruction of property), which is a diagnostic criterion for a different disorder.
Intermittent explosive disorder
0%
Disruptive mood dysregulation disorder
Disruptive mood dysregulation disorder is characterized by recurrent outbursts of anger that are inconsistent with developmental age and occur in various settings over a period of at least 12 months. Individuals typically develop this behavior before age 10. Outbursts occur several times per week, but affected individuals remain persistently irritable in between. Unlike other causes of irritability, DMDD tantrums are not situation-dependent or episodic. Although this patient frequently loses his temper and argues with teachers, he does not fulfill the criteria for this disorder. DMDD also does not account for behavior that violates the rights of others (e.g., bullying, theft, and destruction of property), which is seen in this patient.
Conduct disorder
80%
This patient meets the diagnostic criteria for conduct disorder (CD), which include aggression (e.g., bullying, arguing with teachers), certain criminal behaviors (e.g., theft, destruction of property), and serious rule violation (e.g., truancy). To make the diagnosis, the disturbance in behavior must last at least 12 months and significantly impair social, academic, or occupational functioning, as is the case in this patient. CD typically presents during childhood or adolescence but may persist beyond 18 years of age and result in antisocial personality disorder. It may be preceded by oppositional defiant disorder (ODD). Risk factors for developing CD include genetic, psychological, and social factors (e.g., family instability). CD is also associated with adolescent drug use (e.g., marijuana). Treatment involves cognitive behavioral therapy, parent management training, social skills training, and pharmacotherapy.
Antisocial personality disorder
2%
Antisocial personality disorder is characterized by unlawful behavior, aggression, and impulsivity, which are all seen in this patient. Although a history of these behavioral changes with onset before age 15 is required to diagnose the disorder, the diagnosis is only applied to individuals above the age of 18. While this patient may develop antisocial personality disorder at a later time, it is not the correct diagnosis.
Attention-deficit hyperactivity disorder
3%
Attention-deficit hyperactivity disorder (ADHD) should be suspected in children/adolescents that present with poor performance at school and difficulties with concentration and attention, like this patient. However, to make the diagnosis, the symptoms must be present before the 12th birthday and include at least 5 features of hyperactivity and/or at least 5 features of inattention. While aggression is frequently associated with ADHD, ADHD does not account for many of this patient’s other behaviors, including bullying, theft, drug use, and destruction of property.
A 15-year-old boy is brought to the physician by his parents for evaluation of behavior they find worrying. One week ago, he was suspended from school after talking back to his teacher and preventing her from finishing the class. He also refused to wait outside the principal’s office because he says, the principal “is stupid.” This was his 3rd suspension in 8 months. He frequently argues with his parents and does not respect their curfews. They have tried grounding him, but he keeps escaping through the window at night and does not answer his phone. When his parents try to confront him, he loses his temper and starts screaming at them. During the interview, the patient refuses to answer and frequently disrupts the physician. Which of the following is the most likely diagnosis?
This teenager shows overly disruptive behavior toward adults.
Oppositional defiant disorder
77%
Oppositional defiant disorder (ODD) is characterized by anger, irritable mood, and defiant behavior toward authority figures and peers that significantly impairs social and/or academic functioning for ≥ 6 months, as is the case here. Individuals with ODD have impaired function in multiple environments (e.g., social, educational, occupational), and they typically express hostility toward individuals within their immediate social circles (e.g., family members, peers, work colleagues, teachers). Treatment options include psychotherapy (individual and family), parent management training, and social skills programs.
Normal adolescent development
1%
Intermittent explosive disorder
1%
Antisocial personality disorder
1%
Disruptive mood dysregulation disorder
4%
Disruptive mood dysregulation disorder (DMDD) can manifest with recurrent temper tantrums both at home and at school, as seen here. However, patients with DMDD display extreme temper outbursts that are out of proportion to the inciting event and are persistently angry or irritable between these outbursts, which is not the case for this patient. Moreover, a diagnosis of DMDD cannot be made unless the symptoms have persisted for ≥ 12 months and the onset of symptoms occurs before 10 years of age.
Conduct disorder
16%
Conduct disorder (CD) manifests with aggression towards others and disruptive behavior at home and school, as seen in this patient. However, patients with CD also have repetitive and persistent behavior that violates important age-appropriate societal norms and the basic rights of others (e.g., stealing, property destruction, violence). Moreover, a diagnosis of CD cannot be made unless the symptoms have been ongoing for ≥ 12 months.
A 9-year-old girl is brought to the physician by her parents because of a 2-year history of poor performance in school. Her parents report that her teachers are surprised by her academic underperformance because they find her to be “a bright and vivacious student.” Her academic performance has not improved despite extra tutoring at home. Her parents have noticed that she often does not understand what she reads. She has attended elementary school since the age of 6 years and her parents are native English speakers. She has no history of serious illness and receives no medications. She appears well. She is at the 75th percentile for height and weight. Her vital signs are within normal limits. Physical examination shows no abnormalities. On mental status examination, mood and affect are cheerful and her thought content is normal. Her speech is intelligible and fluent. When asked to read from a children’s novel, she reads certain words slowly and often mispronounces them. Motor skills and cognitive abilities are appropriate for age. Visual acuity testing shows no abnormalities. Which of the following is the most likely diagnosis?
Children with persistent impairment in mathematics (dyscalculia) or writing (e.g., spelling, grammar, or punctuation) would also receive this diagnosis.
Intellectual developmental disorder
1%
Intellectual developmental disorder manifests with poor academic performance during childhood. However, this condition typically also causes more generalized impairments in cognitive function (e.g., in learning, abstract thinking, and reasoning) and adaptive function (e.g., in social interaction and daily activities), which are not seen here. In contrast, this patient only has difficulty reading and is otherwise described as a bright student.
Childhood-onset fluency disorder
5%
Childhood-onset fluency disorder is characterized by disturbances in the normal fluency of speech, which can result in poor academic performance during childhood. Although this patient has difficulty with reading, her speech is intelligible and fluent.
Specific learning disorder
90%
This patient’s history of difficulty reading, which has persisted for ≥ 6 months in the absence of intellectual disabilities or other disorders that could better explain this difficulty, is characteristic of dyslexia, a type of specific learning disorder. These conditions typically develop during early school years and can result in poor academic performance, as seen in this patient. General functioning and intelligence are usually normal. Learning difficulties vary in severity but usually persist into adulthood. Management of specific learning disorders includes academic support, psychotherapy, and extracurricular activities to improve academic and social inclusion.
Autism spectrum disorder
0%
Autism spectrum disorder (ASD) can result in poor academic performance during childhood. However, this condition is also characterized by impairment in social interaction and communication as well as stereotyped patterns of behavior, interests, and activities, none of which are seen here. In addition, patients with ASD often have language impairment; this patient’s speech is fluent and intelligible. Moreover, symptoms of ASD are typically evident before 2–3 years of age.
Attention deficit hyperactivity disorder
0%
Attention deficit hyperactivity disorder (ADHD) can result in poor academic performance during childhood. However, this condition also typically manifests with symptoms of inattention (e.g., poor attention to detail, difficulty sustaining attention during tasks) and hyperactivity (e.g., restlessness, excessive talking, fidgeting), none of which are seen in this patient.
Normal variation in academic attainment
3%
Normal variations in academic attainment include difficulty reading and poor academic performance during childhood. However, variations in academic attainment are usually associated with external factors, such as poor instruction or learning in a second language. In contrast, this patient’s parents are native English speakers and her learning difficulties persist despite adequate educational opportunities (e.g., extra tutoring).
An 8-year-old boy is brought to the physician by his mother because he has been making unusual movements for several years. Recently, he started blinking more frequently for no apparent reason. In the past, he would repeatedly twist his neck, often for several minutes at a time. He has also been copying gestures that others do since 6 years of age. She reports that the movements worsen when he is tired. When asked about the blinking, he says, “Sometimes I suddenly feel like I must blink and, when I do, I feel much better.” He does not take any medications and has met all developmental milestones. He is at the 80th percentile for height and weight. On physical examination, the boy continues to blink excessively. The conjunctiva is clear and pupils are equal and reactive to light. When the physician asks the boy to keep his eyes open, the blinking subsides. During the examination, the boy repeats some of the words of the physician at increasing speed, but he is otherwise alert and oriented. Which of the following is the most likely diagnosis?
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See Analysis
An 8-year-old boy is brought to the physician by his mother because he has been making unusual movements for several years. Recently, he started blinking more frequently for no apparent reason. In the past, he would repeatedly twist his neck, often for several minutes at a time. He has also been copying gestures that others do since 6 years of age. She reports that the movements worsen when he is tired. When asked about the blinking, he says, “Sometimes I suddenly feel like I must blink and, when I do, I feel much better.” He does not take any medications and has met all developmental milestones. He is at the 80th percentile for height and weight. On physical examination, the boy continues to blink excessively. The conjunctiva is clear and pupils are equal and reactive to light. When the physician asks the boy to keep his eyes open, the blinking subsides. During the examination, the boy repeats some of the words of the physician at increasing speed, but he is otherwise alert and oriented. Which of the following is the most likely diagnosis?
his patient’s persistent involuntary repetition of others’ speech (echolalia) and actions (echopraxia), neck twisting (i.e., torticollis), and repetitive, involuntary, but temporarily suppressible blinking meet the criteria for a diagnosis that is also associated with obsessive-compulsive disorder.
Autism spectrum disorder
5%
Autism spectrum disorders (ASD) typically manifest at the age of 2–3 years (more often in boys) with persistent impairment in communication and social interactions (inability to form relationships, reduced empathy, difficulties in adjusting behavior to social situations, poor eye contact) as well as restricted, stereotyped interests, activities, and behavior (e.g., hand clapping, lining up toys, excessive touching). None of these symptoms are present in this patient. In addition, ASD would not explain this patient’s echopraxia, torticollis, or repetitive, involuntary blinking.
Tardive dyskinesia
1%
Sporadic transient tic disorder
11%
Persistent tic disorder
17%
Attention-deficit hyperactivity disorder
0%
Attention-deficit hyperactivity disorder (ADHD) is diagnosed in children (< 13 years old) based on a pattern of inattention (e.g., easily distracted, unable to complete work) and/or hyperactivity (e.g., impulsive behavior, excessive talking) that lasts for ≥ 6 months, neither of which is seen in this patient. While ADHD also would not explain this patient’s vocal or motor tics, it is a common comorbidity associated with this patient’s diagnosis.
Tourette syndrome
65%
Tourette syndrome (TS) is diagnosed in children (< 18 years old) based on the presence of motor tics (e.g., facial grimacing, blinking, torticollis, echopraxia, shoulder shrugging) and vocal tics (e.g., throat clearing, grunting, echolalia, lip-smacking) lasting > 1 year. TS characteristically has a waxing and waning nature, with exacerbation of symptoms occurring during times of stress or fatigue. Tics are commonly preceded by an urge or sensation that is relieved by the tic itself and are often suppressible. Management includes counseling for the patient and caregivers and behavioral therapy, including Comprehensive Behavioral Intervention for Tics (CBIT) and habit reversal training. Pharmacotherapy is indicated in severe or refractory cases and includes alpha-adrenergic agonists (e.g., guanfacine, clonidine), first-generation neuroleptics (e.g., haloperidol, fluphenazine), second-generation neuroleptics (e.g., risperidone), and dopamine depleters (e.g., tetrabenazine). Deep brain stimulation (DBS) is an alternative therapy reserved for patients with severe, distressing tics refractory to behavioral therapy and pharmacotherapy.
A 16-year-old boy is brought to the physician by his mother because she is worried about his behavior. Yesterday, he was expelled from school for repeatedly skipping classes. Over the past 2 months, he was suspended 3 times for bullying and aggressive behavior towards his peers and teachers. Once, his neighbor found him smoking cigarettes in his backyard. In the past, he consistently maintained an A grade average and had been a regular attendee of youth group events at their local church. Three months ago, the boy’s father discovered that the mother was having an affair and moved out of the house; the mother first noticed these changes in the boy’s behavior around that time. Which of the following defense mechanisms best describes the change in this patient’s behavior?
Another example of this defense mechanism would be a child throwing a temper tantrum when he/she does not get their way.
Reaction formation
4%
Reaction formation is a neurotic defense mechanism in which the individual copes with a stressor by unconsciously transforming an unacceptable feeling or impulse into the polar opposite (e.g., a xenophobic person is extremely nice to foreigners). This 16-year-old did not replace the unpleasant feelings associated with the separation of his parents with an opposite reaction.
Suppression
0%
Suppression (psychiatry) is a mature defense mechanism by which the individual intentionally withholds the attention from an anxiety-provoking thought (e.g., choosing not to worry about impending test results). This 16-year-old is not able to consciously suppress the unpleasant feelings associated with the separation of his parents, and instead uses a different defense mechanism to cope with his situation.
Acting out
93%
Acting out (psychiatry) is a type of immature defense mechanism by which the individual copes with a stressor by performing an often extreme behavior (e.g., throwing tantrums, using drugs, committing crimes) to express repressed or unconscious feelings and thoughts (see “Overview of immature defenses” table). This 16-year-old’s extreme and aggressive behavior is his mechanism to deal with the anxiety and conflict caused by the separation of his parents.
Projection
1%
Passive aggression
1%
Passive aggression is an immature defense mechanism in which the individual expresses aggression toward others in an indirect, nonconfrontational manner (e.g., not returning phone calls or intentionally missing meetings). This 16-year-old behaves in an openly aggressive and extreme way, which is more characteristic of a different defense mechanism.
Regression
Regression (psychiatry) is an immature defense mechanism by which the individual avoids dealing with stressors by involuntarily returning to a less mature state of development (e.g., an adolescent wanting to sleep in her parents’ bed during exam periods). This 16-year-old did not try to return to a child-like state to avoid the unpleasant feelings associated with his parents’ separation but instead uses a different defense mechanism to cope with his situation.
A 21-year-old woman has frequent sexual fantasies about female coworkers. When she is with her friends in public, she never misses an opportunity to make derogatory comments about same-sex couples she sees. Which of the following psychological defense mechanisms is she demonstrating?
Another example of this defense mechanism would be a man who is angry at a coworker but acts particularly friendly towards him/her.
Reaction formation
64%
Reaction formation is a neurotic ego defense mechanism in which an individual responds to an undesired idea or feeling by acting in a manner that is diametrically opposed to their feelings. This individual criticizes same-sex couples instead of accepting the possibility that she might be attracted to women.
Acting out
3%
A person who is acting out uses confrontational actions to express feelings or thoughts that he/she cannot express verbally: e.g., an employee who constantly fights with her coworkers because she is upset at having been passed over for a promotion.
Sublimation
4%
Sublimation (psychiatry) refers to the transformation of a socially unacceptable impulse or a detrimental emotion into an acceptable action: e.g., an individual who decides to focus on his/her career after a break-up.
Sexualization
3%
Projection
26%
Projection (psychiatry) is an immature defense mechanism in which the individual attributes his/her thoughts, emotions, or behavior to the thoughts, emotions, or behavior of another individual: e.g., a philandering individual who thinks that his/her partner is also cheating on him/her.
Intellectualization
0%
Intellectualization refers to the excessive use of intellectual processes to avoid acknowledging the anxiety caused by it: e.g., excessively investigating the pathophysiology of a terminal illness instead of reacting to the anxiety caused by it.
A 58-year-old man with hypertension and dyslipidemia comes to the physician for a routine health maintenance examination. He says he feels well. He is 180 cm (5 ft 11 in) tall and weighs 103 kg (227 lb); BMI is 32 kg/m2. His BMI last year was 27 kg/m2. When asked about his diet, he says, “Being overweight runs in my family. Rather than fight it, I just try to enjoy myself and eat what I want.” Which of the following defense mechanisms best describes the patient’s response to the physician?
The patient is using his own logic to avoid taking responsibility for his diet and weight.
Denial
8%
Denial (psychiatry) is a pathological defense mechanism in which the individual consciously avoids anxiety-provoking thoughts by refusing to accept reality. It is a common early response to bad news (e.g., refusing to acknowledge a cancer diagnosis). Denial is also sometimes seen in patients with substance use disorders, who often deny having a problem.
Rationalization
85%
Rationalization is a neurotic defense mechanism that involves offering excuses or rational explanations in an attempt to justify behaviors, attitudes, or beliefs to avoid self-blame. The way in which this patient uses his family history of obesity as a rationale for overeating and his own weight is, therefore, an example of rationalization.
Primitive idealization
3%
In primitive idealization, an individual does not reflect critically on something or someone he/she has classified as “good.” Any perceived deviation from the idealized notion he/she has of someone or something is immediately rationalized as being a result of a personal failure or shortcoming (e.g., a woman who is in an abusive marriage but attributes her partner’s behavior to her failure to be a good wife).
Fantasy
0%
Fantasy (psychiatry) is an immature defense mechanism in which the individual withdraws into fantasy to avoid internal and external sources of conflict (e.g., a homeless man who pretends to be rich and always daydreams about running his own corporation).
Distortion
2%
Distortion (psychiatry) is a pathological defense mechanism in which the individual reshapes his/her perception of an external reality (e.g., an upsetting event) to suit his/her inner needs. An example of distortion (psychiatry) might be someone who maintains they were abandoned by their family when they actually ran away from home.
Intellectualization
2%
Intellectualization is a neurotic defense mechanism that refers to the excessive reliance on facts and logic to avoid acknowledging or confronting one’s emotions (e.g., excessively investigating the pathophysiology of a terminal illness instead of reacting to the anxiety brought on by the diagnosis).
A 71-year-old man comes to the physician because of decreased sexual performance for the past 2 years. He reports that it takes longer for his penis to become erect, and he cannot maintain an erection for as long as before. His ejaculations have become less forceful. Once he has achieved an orgasm, he requires several hours before he can have another orgasm. He has been happily married for 40 years and he has no marital conflicts. His only medication is esomeprazole for gastroesophageal reflux disease. Examination shows coarse dark pubic and axillary hair. The skin of his lower extremity is warm to the touch; pedal pulses and sensation are intact. Rectal examination shows a symmetrically enlarged prostate with no masses. His fasting serum glucose is 96 mg/dL and his prostate-specific antigen is 3.9 ng/mL (N < 4). Which of the following etiologies is the most likely cause of the patient’s symptoms?
Laboratory testing would reveal a normal testosterone level and decreased sperm production.
Vascular
13%
Erectile dysfunction can be a manifestation of underlying vascular disease, often associated with conditions such as hypertension, diabetes mellitus, and peripheral artery disease. This patient’s medical history and physical examination (warm lower extremities, intact pedal pulses and sensation) are not suggestive of a vascular etiology of his condition.
Pharmacologic
3%
Erectile dysfunction can be caused by various classes of medications such as antihypertensives (e.g., beta-blockers, thiazide diuretics), antidepressants (e.g., SSRIs), and dopamine antagonists (e.g., antipsychotics). The patient is currently treated with esomeprazole, which is not associated with erectile dysfunction.
Psychogenic
4%
Psychogenic erectile dysfunction may develop due to psychosocial stress (e.g., relationship trouble, trauma) or in association with an underlying psychiatric condition (e.g., depression, anxiety disorder). However, this patient does not report any marital conflicts nor does he demonstrate any symptoms of a psychiatric condition.
Neoplastic
2%
Prostate cancer is not a direct cause of erectile dysfunction, but treatment for this condition can lead to erectile dysfunction through the use of antiandrogen therapy or as a result of surgical excision. This patient’s physical examination shows symmetrical growth of the prostate with no masses and normal prostate-specific antigen, which is consistent with benign prostatic hyperplasia.
Neurogenic
4%
Neurogenic causes of erectile dysfunction (ED) include stroke, trauma that affects the brain and/or spinal cord, and neurodegenerative diseases (e.g., multiple sclerosis, Parkinson disease), none of which are seen in this patient. Patients with neurogenic ED typically cannot develop erections. While this man is having difficulty obtaining and maintaining his erection, he is still able to develop an erection.
Physiologic
74%
Physiologic changes in male sexual function due to aging include delays in obtaining and maintaining an erection, longer refractory period between orgasms, and decreased ejaculate force and volume, which this patient describes. These are normal changes that progress gradually with advancing age, and they are not reflective of hormonal changes or decreased sexual desire.
