Question 1.
A 40-year-old woman comes to the psychiatric outpatient clinic because of decreased mood since the breakup with her boyfriend 6 months ago. She reports that she has been dating him for about 5 years but he left because she was “too clingy” and got tired of her frequent calls. She states that she has lived at home since dropping out of college because she does not like to be alone. She says that she has been calling her mother at work frequently since the breakup because she feels helpless, depressed and lonely. Which of the following is the most likely diagnosis?
Borderline
Borderline personality disorder is a cluster B disorder. These patients areimpulsive, emotionally unstable, and suicidal. They fear abandonment and as a result often times have unstable relationships. They use splitting as theirdefense mechanism and will often times commit self-mutilation.
Dependent
Major takeaway
Dependent personality disorder is a personality disorder that is characterized by a pervasive psychological dependence on other people. These patients depend on others to meet their emotional and physical needs.
Main explanation
Dependent personality disorder is a cluster C personality disorder and is characterized as a pervasive psychological dependence on other people. These patients will have a poor self-confidence, fear of separation, and submissive behavior. They will experience anxiety and fear which can result in a clingy behavior and instable relationships. Other cluster C disorders included avoidant personality disorder, dependent personality disorder, and obsessive-compulsive personality disorder. These patients often live at home as only a minority will achieve normal levels of independence.
According to DSM-V criteria, the diagnosis requires at least 5 of the following features:
1. Difficulty making decisions without guidance
2. Need for others to assume responsibility
3. Difficulty disagreeing with others
4. Lack of confidence
5. Excessive measures to obtain reassurance, nurturance, and support
6. Discomfort of helplessness when alone
7. Urgently seeks another relationship when one ends
8. Preoccupied with fears of being left to take care of self
Treatment in these patients mainly consists of psychotherapy. A low-dose antipsychotic can sometimes be used.
Histrionic personality disorder
Histrionic personality disorder is a cluster B disorder. These patients are emotional and dramatic. They wear provocative clothing in an attempt to gain attention. They have a difficult time keeping long term relationships. Regression is a common defense mechanism utilized by these patients.
Narcissist personality disorder
Narcissistic personality disorder is a cluster B disorder. These patients have an inflated sense of self, sense of entitlement, and lack of regard for others. They have a need for admiration and are willing to sacrifice others for their personal gain. They are also excessively sensitive to criticism and actually have a low self-esteem.
Paranoid personality disorde
Paranoid personality disorder is a cluster A personality disorder characterized by an intense mistrust and suspicion of others. These patients are quick toblame others for their misfortune and are often angry and jealous. This disorder is more common in males compared to females.
Question 2.
A 12-year-old girl comes to the pediatrician’s office because of a recently diagnosed streptococcal infection. She has a history of repeated bouts of staphylococcal and streptococcal infections throughout her life, for which she had been prescribed antibiotics each time. Physical examination shows features similar to defective melanin synthesis. Which of the following immune deficiencies is most likely present in this patient?
Chediak
Major takeaway
Chediak-Higashi syndrome is an autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport associated with recurrent streptococcal and staphylococcal infections.
Main explanation
Chediak-Higashi syndrome is an inherited autosomal recessive disease. It is a rare childhood autosomal recessive disorder that affects multiple systems of the body. Patients with Chediak-Higashi exhibit hypopigmentation of the skin, eyes, and hair; prolonged bleeding times; easy bruisability; recurrent infections; abnormal natural killer cell function; and peripheral neuropathy. It is caused by a deficiency in lysosomal emptying of phagocytic cellsdue to a defect in microtubule function. Therefore, patients with Chediak-Higashi disease are often characterized by recurrent streptococcal and staphylococcal infections. Partial albinismmay be present, as melanosomes are derivatives of lysosomes. Most patients who do not undergo bone marrow transplantation die of a lymphoproliferative syndrome
Chronic granulomatous disease
Chronic granulomatous disease is a rare disease caused by mutations in any of the five components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. This enzyme generates superoxide and is essential for intracellular killing of pathogens by phagocytes. This condition is characterized by an increased susceptibility to infections by Staphylococcus and Candida.
Hyper-IgM syndrome
X-linked immunodeficiency with hyper–immunoglobulin M is a rare form of primary immunodeficiency disease caused by mutations in the gene that codes for CD40 ligand thus making it impossible to undergo immunoglobulin (Ig) class-switching from IgM to IgG, IgA, and IgE.
Selective IgA deficiency
Selective immunoglobulin deficiency is a deficit in a specific class of immunoglobulins. IgA deficiency is the most common of these diseases. Since IgA is the most prominent immunoglobulin found in mucous membranes, patients suffering from a deficiency of it are often characterized by sinus and lung infections.
Severe combined immunodeficiency
Severe combined immunodeficiency (SCID) is a disorder that results from any of a heterogenous group of genetic conditionsaffecting the immune system. It is a defect in early stem cell differentiation that can have many causes. The typical presentation of this disease includes recurrent bacterial, viral, protozoal, and fungal infections.
Question 3.
A 38-year-old man comes to the clinic because of pain and tingling at his left elbow and in the fourth and fifth fingers of his left hand for the past two months. He began working as a long-haul truck driver three months ago. His temperature is 37.0°C (98.6°F), pulse is 82/min, respirations are 18/min, and blood pressure is 132/84 mm Hg. Physical examination shows mild atrophy of the hypothenar eminence and intrinsic muscles of the hand. When attempting to pinch a sheet of paper between his left thumb and index fingers, he shows weakness and flexion of the interphalangeal joint of the thumb. When attempting to make a fist with his left hand, the fourth and fifth digits do not flex. Which of the following nerves is most likely injured?
Axillary
Axillary nerve injury results in sensory loss over the lateral shoulder, loss of arm abduction at the shoulder beyond 15 degrees and a flattened deltoid muscle.
Median nerve
Median nerve injury results in sensory loss over the dorsal and palmar aspects of the lateral three digits and lateral half of the fourth digit of the hand. Individuals also exhibit weakness in flexion of those fingers, while this patient struggled to flex his medial fingers.
Musculocutaneous nerve
Musculocutaneous nerve injury results in sensory loss over the lateral forearm and weakness in forearm supination and flexion. Injury usually results from compression of the upper trunk of the brachial plexus. It does not affect the fingers.
Radial nerve
Radial nerve injury results in loss of extension at the elbow, wrist, and fingers and sensory loss over the dorsal hand and posterior arm and forearm. It does not affect flexion only of the medial fingers, though can reduce grip strength as maximal finger flexion requires wrist extension.
Ulnar
Major takeaway
Ulnar nerve entrapment is caused by compression of the ulnar nerve, usually at the cubital tunnel of the elbow or Guyon canal of the wrist. It often occurs in individuals who rest their elbows or wrists on hard surfaces, e.g., a car armrest, on desktops, or on bicycle handlebars.
Main explanation
Ulnar nerve entrapment is caused by compression of the ulnar nerve, usually at the cubital tunnel of the elbow or Guyon canal of the wrist. It often occurs in individuals who rest their elbows or wrists on hard surfaces, e.g., a car armrest, on desktops, or on bicycle handlebars. At the elbow, the ulnar nerve is particularly susceptible to external compression as it travels posterior to the medial epicondyle. As the ulnar nerve innervates the interosseous muscles of the hand, continual compression leading to damage of the nerve will eventually lead to significant wasting of the muscles, leaving the hand with a bony appearance. The Froment sign (deficits when attempting to pinch a piece of paper between the first and second digits) occurs because of weakness in the adductor pollicis longus and first dorsal interosseous nerve, requiring flexion of the interphalangeal joint of the thumb with the flexor pollicis longus, which is innervated by the median nerve, to maintain hold of the paper.
Question 4.
A 48-year-old woman comes to the clinic because of worsening right shoulder pain for the past year. She notices the pain when putting away dishes on the shelves up high and also during certain positions while sleeping. Her medical history is noncontributory. Her current medications include ibuprofen as needed for pain. Her temperature is 37.0°C (98.6°F), pulse is 76/min, respirations are 10/min, and blood pressure is 122/78 mm Hg. Physical examination shows reproduction of the right shoulder pain on forward flexion and internal rotation. At rest, her upper extremities appear symmetric bilaterally without swelling or redness. The patient rates the pain as a 2 on a 10-point scale at rest, but an 8 with pain reproduction. Shoulder X-ray does not show evidence of acromioclavicular joint arthritis. Which of the following is the most likely diagnosis?
Baker
Baker cyst is a fluid collection in the popliteal area of the gastrocnemius-semimembranous bursa that results from a fluid communication with the synovial space. They typically arise in the setting of chronic joint disease in the knee.
Erb palsy
Erby palsy is a neurologic disorder caused by damage to the upper trunk of the brachial plexus (cervical nerves C5 and C6) that results in abduction, lateral rotation, flexion, and supination of the arm, resulting in the “waiter’s tip” deformity.
Impingement
Major takeaway
Impingement syndrome is a painful condition of the shoulder that results from the mechanical compression of rotator cuff tendons beneath the acromion. The reduction in subacromial space leads to impingement of the bursa and/or rotator cuff tendons, especially with forward flexion and internal rotation of the shoulder.
Main explanation
Impingement syndrome is a painful condition of the shoulder that results from the mechanical compression of rotator cuff tendons beneath the acromion. The pain can result from inflammation or damage to a few structures in the area. Tendinitis of a rotator cuff tendon can result from mechanical irritation or damage. Bursitis of the subacromial bursa can result in increased intrabursal fluid, thus reducing the area available for movement within the already tight space. As a patient ages, chronic inflammation and mechanical damage to the area can lead to fibrosis of rotator cuff tendons and ostephyte formation on the acromion. The reduction in subacromial space leads to impingement of the bursa and/or rotator cuff tendons, especially with forward flexion and internal rotation of the shoulder (thus this combination of manipulations comprises the Neer impingement test.
Thoracic outlet syndrome
Thoracic outlet syndrome is characterized by ischemia, pain, edema, and atrophy of the intrinsic hand muscles due to compression of the subclavian vessels and lower trunk of the brachial plexus.
Winged scapula
Winged scapula is a mechanical deformity characterized by an inability to control the serratus anterior due to injury of the long thoracic nerve, and thus the scapula cannot be anchored to the rib cage.
Question 5.
A 3500-g (7.5-lb) male is born with a protruding sac-like lesion on his lower back. Physical examination shows mildly labored respiration with a suspected decrease in sensation of bilateral lower extremities and pronounced reduction in tone and strength of the lower limbs. Upper extremities are normal. Which of the following is the most appropriate next step in management of this congenital abnormality?
Anti
Patients with spina bifida are at an increased risk of complications including hydrocephaly and meningitis. However, the first step in management should be to treat the spina bifida as soon as possible to prevent further nerve damage.
Immediate lumbar puncture to check for meningitis
Patients with a history of spina bifida are at an increased risk of meningitis. A lumbar puncture is an investigation for meningitis, not a treatment, and it is more urgent to treat the already determined spina bifida.
Manual compression of the lesion under the supervision of the consultant surgeon on call
This is not an appropriate intervention for spina bifida. In fact it risks causing further damage to the spinal cord.
Surgical intervention within the first few days of life.
Major takeaway
Myelomeningocele, a severe form of spina bifida, is characterized by a protruding sac-like lesion on the lower back of a neonate. Surgical intervention within the first few days of life is the best treatment for a baby presenting with myelomeningocele.
Main explanation
Credit: Wikimedia Commons
This is a classic presentation of spina bifida, an incomplete closure of the neural tube during the first month of embryonic development. Spina bifida occulta is a mild form in which spinal cord splits are so small they may not even protrude. Meningocele is characterized by mild symptoms (including the fluid-filled sac at the site of defect) but the nervous system is unaffected.
In this case, the patient has myelomeningocele, a severe form of spina bifida where portions of meninges and spinal cord protrude through the defect. Symptoms include dyspnea, paralysisof the lower extremities, and bladder/bowel incontinence. Patients with spina bifida are at an increased risk of latex allergy, meningitis, hydrocephalus, and tethered spinal cord. Options for treatment/management of spina bifida include:
• Surgical intervention within the first few days of life
• Intrauterine surgery
• Protective devices and safe handling
• Ventriculo-peritoneal shunt if there is evidence of hydrocephalus
• Prophylactic antibiotics
• Abortion may be considered in certain circumstance depending on the hospital location and guidelines and the mothers’ preference
The standard treatment is surgical intervention after delivery. This is because significantly increased risk to both the child and mother if surgery is performed during pregnancy.
A Ventriculo-peritoneal shunt to prevent cerebral spinal fluid buildup
Patients with myelomeningocele are at risk of hydrocephalus. This can be managed by providing continuous flow for the cerebrospinal fluid from the brain to either the abdomen or chest wall. However, the underlying etiology (spina bifida) should be treated first, after which the surgeon would determine need for a shunt.
Question 6.
A 58-year-old woman comes to the office because of vaginal bleeding. She experienced an episode of bleeding two months ago for the first time since menopause five years ago. The episode lasted for two days and was lighter in flow than her previously normal menses. She experienced another episode of bleeding this week that lasted three days that was similar in flow to her normal menstrual cycles. Other than some minimal cramping, she denies pain with these episodes. In the past she had normal menstrual cycles and gave birth to one full-term boy via spontaneous vaginal delivery at 32 years old. She went through menopauseat the age of 54 and was treated with hormonal replacement therapy for nine months due to severe hot flashes. Her past medical history is otherwise noncontributory. Her BMI is 35 kg/m2. Which of the following is the most likely diagnosis?
A
Major takeaway
Endometrial hyperplasia is caused by unopposed estrogen stimulation, leading to increased proliferation of the glands and stroma in the endometrium. Patients may present with post-menopausal bleeding.
Main explanation
Post-menopausal bleeding is always concerning for the possibility of endometrial hyperplasiaor endometrial carcinoma. Endometrial hyperplasia occurs when there is increased estrogenstimulation of the endometrium, leading to proliferation of the glands and stroma. Patients at high risk of increased estrogen stimulation include patients who are obese, nulliparous, have polycystic ovary syndrome or other anovulatory cycles, or have estrogen secreting tumors. Treatment with estrogen hormone replacement therapy without progesterone can also increase the risk of endometrial hyperplasia due to the unopposed actions of the estrogen. Diagnosis is made by endometrial biopsy in the office, and repeat biopsies may required to monitor the condition.
Endometriosis
Endometriosis is a condition that impacts women of reproductive age. It is characterized by dysmenorrhea due to the presence of endometrial tissue outside the uterine cavity.
Leiomyoma
Leiomyomas, also known as fibroids, are common benign tumors of the smooth muscle that affect women in their 20s and 30s. Most patients are asymptomatic, but submocosal fibroids can lead to menorrhagia. Infertility is uncommon unless the fibroidscause problems with implantation. Dysmenorrhea is uncommon.
Leiomyosarcoma
Leiomyosarcoma is a highly aggressive malignant tumor arising from the uterine wall. They are uncommon tumors that most commonly affect women aged 30 through 50 and present with vaginal bleeding as well as increased pelvic pressure and abdominal distention. While women often have multiple leiomyomas, leimyosarcomas are usually solitary tumors.
Normal menstrual bleeding
Endometrial hyperplasia is caused by elevated estrogen stimulation, leading to increased proliferation of the glands and stroma in the endometrium. Patients may present with post-menopausal bleeding.
Question 7.
A 14-year-old girl is brought to the clinic by her father because of abnormal eating behavior. She states she feels compelled to eat baking soda. The behavior started approximately 1 year ago during the time of her parent’s separation. She realizes that it’s an unusual habit but has been unable to stop. Which of the following conditions is associated with the disorder present in this patient?
Delirium
Delirium tremens is seen in patients experiencing acute alcohol withdrawal. It is the most severe complication of withdrawal and is characterized by confusion, hallucinations, autonomic hyperactivity, and agitation.
Iron
Major takeaway
Pica is an eating disorder in which a person feels a compulsion to ingest substances with no nutritive value. A common association is iron deficiency anemia.
Main explanation
The patient presents characteristic signs and symptoms of pica disorder. This is an eating disorder in which a person feels a compulsion to eat substances with no nutritional value. Substances ingested by patients with Pica disorder include soil, paint, clay, wood, wool, paper, and many others, including baking soda. Iron deficiency anemia is one of the most common associations with pica and may be characterized by fatigue, pallor, and breathlessness if the anemia is significant. Pica can result in dental damage, unusual infections, and gastrointestinal complications. Patients with pica require treatment and a multidisciplinary approach is recommended. There is no medical treatment and the goals of therapy should be to address nutritional deficiencies and provide social and psychological support.
Lead poisoning
Although lead poisoning is a possible health issue related to Pica disorder, it only occurs if the patient is eating lead-containing substances such as paint or contaminated soil.
Metabolic acidosis
Baking soda (sodium bicarbonate) can cause metabolic alkalosis if consumed in large amounts, as can occur in baking soda pica.
Polymyositis
Polymyositis is an autoimmune condition leading to muscle inflammation. It is not associated with pica syndrome. Rhabdomyolysis, however, has been seen in patients with baking soda pica syndrome.
Question 8.
A 50-year-old man comes to the office because of frequent coughing with “cups” of mucus for two months. He says he has experienced similar episodes in the preceding two years, which lasted for 3-5 months each time. Examination shows a BMI of 31, central cyanosis, and coarse rhonchi and wheezing are heard on pulmonary auscultation. Oxygen saturation measured by pulse oximetry is 90%. He has a 30 pack-year history of cigarette smoking and his Reid index was calculated to be 55%. Which of the following is the most likely diagnosis?
Emphysema
Emphysema is a form of chronic obstructive pulmonary disease (COPD). It is defined as an abnormal permanent enlargement of air spaces distal to the terminal bronchioles, accompanied by the destruction of alveolar walls, and without obvious fibrosis. Patients present with productive cough, wheezing, and dyspnea.
Congestive heart failure
Patients with congestive heart failure present with exertional dyspnea, orthopnea, paroxysmal nocturnal dyspnea, dyspnea at rest, and in cases of acute decompensation, with cardiogenic pulmonary edema. Other cardiac symptoms of heart failure include chest pain or pressure and palpitations.
Sarcoidosis
Sarcoidosis is a multisystem inflammatory disease of unknown etiology that manifests as noncaseating granulomas, predominantly in the lungs and intrathoracic lymph nodes. Pulmonary symptoms in patients with sarcoidosis are nonproductive cough, dyspnea on exertion, chest pain, and rarely, hemoptysis. Systemic symptoms usually consist of fever, anorexia, and arthralgias.
Chronic
Major takeaway
Chronic bronchitis is a form of chronic obstructive pulmonary disease (COPD) clinically defined as a productive cough for at least 3 months per year for at least 2 years. On pathologic examination, the Reid index will be greater than 50%.
Main explanation
Chronic bronchitis is a form of chronic obstructive pulmonary disease (COPD), along with emphysema. It is caused by hypertrophy of mucus-secreting glands in the bronchi, known as goblet cells. This is often associated with a Reid index (thickness of gland layer divided by the total thickness of the bronchial wall) of 50% or more. Common symptoms and signs include wheezing, rhonchi, central cyanosis, and dyspnea. Chronic bronchitis is defined as a productive cough for > 3 months per year (not necessarily consecutive) for > 2 years.
Findings of chronic bronchitis on chest X-ray are nonspecific and include increased bronchovascular markings and cardiomegaly. Emphysema manifests as lung hyperinflation with flattened hemidiaphragms, a “teardrop heart” appearance, mark of the compression that the hyperinflated lungs exert on the mediastinum, and possible bullous changes. Examination may show a “barreled chest” with a widened anterior-posterior diameter.
COPD may be difficult to distinguish from congestive heart failure (CHF). One bedside test for distinguishing COPD from CHF is peak expiratory flow. If patients blow 150-200 mL or less, they are probably having a COPD exacerbation; higher flows indicate a probable CHF exacerbation.
Asthma
During an acute asthma episode, patients may present with wheezing and in severe cases, cough productive of a thick abundant sputum known as bronchial casts. The long duration of this patient’s symptoms are indicative of a chronic process however, which makes asthma less likely.
Question 9.
A 62-year-old man comes to the clinic for problems with his balance and gait. He noticed he has been unsteady while walking. He denies any joint pain or a history of trauma. He does admit that his limbs become rigid at times. On physical examination, he has a slow shuffling gait and a tremor in his hands while at rest that improves with movement. There is also rigidity in his upper extremities upon passive movement. Which of the following is the first-line pharmacologic therapy to control symptoms in this patient’s condition?
Haloperidol
Haloperidol is a dopamine receptor antagonist and is a first-generation antipsychotic that is used in acute psychosis and also in Huntington disease.
Levodopa
Major takeaway
Levodopa is the first-line agent used to treat symptoms of Parkinson disease. Although there is no cure for this condition, supplementing dopamine in the brain has been shown to improve symptoms. The caudate nucleus and putamen are the primary regions that are affected in this disorder.
Main explanation
Parkinson disease is a slowly progressive, idiopathic degenerative central nervous systemdisease that is most common in men 50 years of age and results in depletion of dopamine in the caudate nucleus and putamen. It is characterized by pill-rolling tremors at rest, rigidity, akinesia, dementia, postural instability and shuffling gait. There is no cure and progression occurs rapidly. First line medications to control symptoms include levodopa and carbidopa that increase dopamine in the brain. Both of these medications work together to increase the bioavailability of dopamine in the central nervous system. Other medications that are used as adjunctive treatments in Parkinson disease to increase dopamine in the brain include bromocriptine, amantadine, selegiline and catechol-O-methyl transferase inhibitors.
Memantine
Memantine is a N-Methyl-D-aspartate receptor antagonist that is used to slow the progression of Alzheimer disease. It is often used on patients with moderate Alzheimer disease who are intolerant of or have a contraindication to acetylcholinesterase inhibitors, or those with severe Alzheimer disease.
Riluzole
Riluzole is used as treatment for amyotrophic lateral sclerosis and has been shown to mildly increase survival by decreasing glutamate.
Selegiline
Selegiline inhibits monoamine oxidase-B and increases dopamine availability and is used as an adjunctive agent in the treatment of Parkinson’s disease.
Question 10.
A 17-year old Japanese-American boy comes to the office because of “taijin kyofusho” for the past 10 months. He explains that taijin kyofusho is a condition where “his gaze upsets people so they look away and avoid him.” His mother expresses confusion, but support, saying that Japanese culture is very important to her son and that recently he has found himself withdrawn from his American high school peers and immersed in texts about Japanese culture. The boy avoids contact with people outside his family and seems very downcast and concerned that no one will understand or like him. He doesn’t have any hallucinations or any precipitating trauma. Which of the following is the most appropriate diagnosis?
Factitious
There is no reason to dismiss the patient’s fear as factitious given his cultural background, the credence and investment they and their family give to the situation, and its ego-dystonic and dysfunctional (e.g. social isolation) nature.
Separation anxiety disorder
Separation anxiety is characterized by a fear of being separated from one’s parents. The affected individual may have trouble sleeping on his own or worry that something bad will happen during the time of separation.
Social
Major takeaway
Taijin kyofusho is described in the DSM-V as a culture-related diagnostic issue associated withsocial anxiety disorder. It is characterized by a fear of social judgment or judgment in social situations.
Main explanation
Taijin kyofusho is described in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V) as a culture-related diagnostic issue associated with a more severe version of social anxiety disorder (SAD). It is characterized by a delusion regarding negative evaluation by others. SAD itself is characterized by an excessive fear of humiliation, embarrassment, or otherwise negative evaluation by others in social situations. Individuals with SAD either avoid the social situations in question or endure them with marked discomfort or anxiety. .The fear oranxiety typically lasts for at least six months and is not attributable to another illness or substance use.
Somatic symptom disorder
Somatic symptom disorder, or somatization, is characterized by the presence of physical symptoms that cause distress or psychosocial impairment. The patient is not experiencing any somatic symptoms (e.g. stomach ache), rather he is experiencing anxiety due to perceived or feared social judgment.
Specific phobia
The patient is specifically addressing a fear of social judgment or judgment in social situations. This makes the phobia better described by social anxiety disorder (social phobia) rather than a specific phobia around “gaze.”
