Question 1.
A 27-year-old woman comes to the office because of 1-month left wrist pain. The pain occurs on her left upper limb and radiates from her thumb and wrist whenever she carries her 9 month old baby. Before the baby was born, she never suffered from pain in that area. Her past medical history is noncontributory. Vital signs are normal. The first dorsal compartment over the radial styloid feels thickened. The Finkelstein test is positive. Which of the following is the most likely diagnosis?
De Quervain tenosynovitis
Major takeaway
De Quervain tenosynovitis is caused by thickening of the abductor pollicis and extensor pollicis brevis which can be due to acute or repetitive trauma.
Main explanation
De Quervain Tenosynovitis is caused by a thickening of the tendons contained within the first dorsal compartment at the wrist, the abductor pollicis longus, and the extensor pollicis brevis, caused by acute or repetitive trauma. The thickening restrains gliding of the tendons through the sheath, thus causing pain during thumb motion with or without radial or ulnar deviation of the wrist. The Finkelstein test consists in the flexion of the thumb across the palm and then ulnar deviation of the wrist. When the test is positive it will cause excruciating pain at the first dorsal compartment.
Flexor Tenosynovitis
This refers to a chronic inflammation of the flexor tendon complex, which causes discomfort and disability with flexion of the wrist. The Finkelstein test will be negative.
Plantar fasciitis
Plantar fasciitis occurs when there there is inflammation of the plantar fascia of the foot, commonly from overuse in sports like running.
Scaphoid Fracture
One of the most common fractures in the wrist among young people, and causes excruciating pain across the thumb when flexion is made.
Trigger Finger
Caused by an injury in the A1 proximal joint, “trigger finger” causes a painful flexion of the affected finger, and fingers can repetitively become trapped in a flexed position.
Question 2.
A 17-year-old girl comes to the office because of recurrent episodes of palpitations, sweating, chills, nausea, dizziness, numbness in her extremities, and shortness of breath, accompanied by intense fear. The episodes seem to come on “out of the blue”. One episode was triggered by seeing an old middle school friend, another by crossing the street. She is a model and her symptoms started four months ago after she was voted off of a very popular television show. Since then, she’s started avoiding the television because it reminds her of the show and makes her feel rejected. She stays in her room most days for fear of “losing it” in public. Which of the following is the most likely diagnosis?
Agoraphobia
Specific phobias, like agoraphobia or fear of situations in which the individual may feel insecure or trapped, are disorders characterized by marked and persistent fear that is excessive or unreasonable, triggered by some object or situation. This patient’s panic disorder motivates her fear of such situations and not vice versa.
Bipolar disorder type II
Bipolar II disorder is defined as recurrent episodes of depression and hypomania. Hypomania requires elevated (euphoric) and/or irritable mood, plus at least three of the following symptoms: grandiosity, a decreased need for sleep, increased talking, racing thoughts, distractibility, overactivity, psychomotor agitation, and excessive involvement in risky activities.
Cyclothymia
Cyclothymia, or cyclothymic disorder, is a mild form of bipolar disorder characterized by a history of mood swings that range from mild depression to emotional highs. Most patients experience mild enough symptoms that they do not seek mental health treatment, so cyclothymia often goes undiagnosed and untreated.
Generalized anxiety disorder
Generalized anxiety disorder is characterized by at least six months of excessive fear or worry without a specific trigger, accompanied by psychosomatic symptoms specific to anxiety disorders, that are difficult to control and impair functioning. It is not, however, accompanied by panic attacks, which is what this patient is experiencing.
Panic disorder
Major takeaway
Panic disorder is characterized by recurrent spontaneous panic attacks without an obvious cause with at least one month of persistent fear of experiencing another attack or significant behavioral changes related to the attack. Features of panic attack include palpitations (most common), dizziness, shortness of breath, seating, chill and chest pain.
Main explanation
This patient has a panic disorder. Panic disorder is characterized by the spontaneous or unexpected occurrence of panic attacks, the frequency of which can vary from several attacks per day to only a few attacks per year. Panic attacks develop abruptly and peak rapidly <10 minutes from symptom onset.
Panic attacks consist in periods of intense fear accompanied by signs and symptoms such as dizziness, shortness of breath, numbness, trembling, nausea, sweating, chills, palpitations(most common), and chest pain. Patients may experience intrusive thoughts of fear of dying, losing control, or being detached or choking. In order to meet Diagnostic and Statistical Manual 5 (DSM 5) criteria for panic disorder 4 of 13 of these symptoms must be met. In addition, these recurrent, unexpected attacks must result in either persistent worry/anticipatory anxiety or changes in behavior in the patient. Common behavioral changes include avoidance behaviors and an withdrawal from life and novel situations. Thus, panic disorder may progress to agoraphobia.
Furthermore, diagnosis requires that the panic attacks cannot result from substance use, either intoxication or withdrawal or be the consequence of general medical conditions or other psychiatric disorders like agoraphobia or social anxiety disorder.
Question 3.
A 32-year-old man comes to the outpatient clinic because of perianal pain for four weeks. The pain is excruciating during defecationand a dull throbbing pain is experienced for 10-15 minutes afterward. Patient notes blood on the stool and the toilet paper. The patient denies fever, difficulty urinating, or previous episodes similar to what he is experiencing now. Examination shows a significant split in the anoderm along the posterior midline of the anus. Which of the following treatments is the most appropriate next step in management?
Fistulotomy
A fistulotomy is the surgical intervention of choice for a fistula. This patient has an anal fissure and not a fistula.
Lateral internal sphincterotomy
This patient has yet to try medical therapy. Surgery is considered in those patients with fissures that fail to heal with adequate medical therapy. The surgical procedure performed is a lateral internal sphincterotomy.
Laxatives
The patient is affected by an anal fissure, is a superficial tear in the anoderm. Providing laxatives may relieve any future constipation which may exacerbate the anal fissure; however, it is not the standard of care or the next best step in treating the condition.
No medical intervention
Acute anal fissures can heal spontaneously; however, this patient has had his fissure for nearly four weeks now and needs intervention. Medical therapy is the best option at this time.
Sitz baths, bulking agents, stool softeners, and topical anesthetics
Major takeaway
An anal fissure is a superficial tear in the anoderm that occurs most commonly at the posterior midline of the anus. First-line treatment for anal fissure is a medical therapy which includes sitz baths, stool softeners, bulking agents, and topical anesthetics.
Main explanation
An anal fissure is a superficial tear in the anoderm that results from the combination of trying to forcefully pass hard stool and an increased internal sphincter pressure that results in trauma. The first-line treatment for an anal fissure is medical therapy including sitz baths, stool softeners, bulking agents, and topical anesthetics. The stool softeners and bulking agents make defecation less traumatic and painful while sitz baths decrease the sphincter spasm and increase blood flow, further promoting healing of the fissure. The topical anesthetic, such as a lidocaine jelly, is used to minimize the pain secondary to the anal fissure. Topical anestheticsalone are less effective than the use of Sitz baths and stool softeners/bulking agents alone. Other possible options for anal fissure therapy include botulinum toxin injections to the internal sphincter, topical nitroglycerin, topical diltiazem, topical bethanechol, oral nifedipine, or oral diltiazem. If medical therapy fails, or the patient experiences a recurrent fissure, then surgery would be the next best step in management. The surgical procedure utilized to treat anal fissures is called a lateral internal sphincterotomy.
Question 4.
A 3-year-old boy is brought to the clinic by his mother because of aggressive behaviour and a loss of previously acquired motor skills. Physical examination shows distinctive coarse facial features including a prominent forehead, a nose with a flattened bridge, an enlarged tongue, and an absence of corneal clouding. The mother tearfully admits to consuming alcohol during pregnancy. Laboratory studies show an absent level of iduronate-2-sulfatase in his leukocytes. Which of the following is the most likely diagnosis?
Chronic granulomatous disease
Chronic granulomatous disease (CGD) is caused by a deficiency in the NADPH oxidase enzyme in neutrophils. CGD is characterized by serious recurrent infections caused by catalase positive pathogens making it the incorrect answer choice. The diagnosis is confirmed with a negative nitroblue tetrazolium test.
Hunter syndrome
Major takeaway
Hunter syndrome is caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Hunter syndrome is characterized by coarse facial features, aggressive behaviour, a loss of previously acquired skills, and the absence of corneal clouding. Symptoms of the disease are prominent between the ages of 2-4 years old.
Main explanation
Hunter syndrome is caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase, resulting in the accumulation of proteoglycans heparin sulfate and dermatan sulfate. It is an X-linked recessive disorder, affecting males more than females. Symptoms of the disease are most apparent between the ages of 2-4 years old. Hunter syndrome is characterized by coarse facial features such as macrocephaly, macroglossia, a flattened nose bridge, along with aggressive behavior, and a loss of previously acquired skills. Hunter syndrome is also characterized by the absence of corneal clouding on physical examination, differentiating it from Hurler syndrome, which is characterized by the presence of corneal clouding on physical examination. There is no definitive cure for Hunter syndrome; however, treatment involves managing symptoms.
Hurler syndrome
Hurler syndrome is caused by a deficiency in the lysosomal enzyme ⍺-L iduronidase, resulting in the accumulation of proteoglycansheparin sulfate and dermatan sulfate. Hurler syndrome is characterized by mental retardation, micrognathia, coarsening facial features with macroglossia, retinal degeneration, corneal clouding, and cardiomyopathy, making it the incorrect answer choice.
Tay Sachs disease
Tay Sachs disease is caused by a deficiency in hexosaminidase A, resulting in the accumulation of GM2 gangliosides in neurons. Tay Sachs is an autosomal recessive disease. It is characterized by neurodegeneration, started reflexes, a cherry red spot on macula, blindness, and developmental delay, making it the incorrect answer choice.
Tetralogy of Fallot
Tetralogy of Fallot (TOF) is a congenital heart defect characterized by early cyanosis of the skin, shortness of breath, digital clubbing, and polycythemia. TOF includes pulmonary stenosis, right ventricular hypertrophy, an overriding aorta, and a ventricular septal defect, making it the incorrect answer choice. Treatment includes beta-blockers and surgical correction.
Question 5.
A 4-year-old boy comes to the emergency department because of irritation of the eyes and eyelids, a discharge from the eyes, and blurry vision for the past two days. The boy had recently immigrated from Africa with his father, who has a long-standing history of hypertension. Physical examination shows inward turned eyelashes and corneal ulcers. Giemsa stain shows intracytoplasmicinclusions. Which of the following is the most likely diagnosis?
Trachoma
Major takeaway
Trachoma caused by Chlamydia trachomatis serotypes A-C, is the leading infectious cause of preventable blindness worldwide. Trachoma is characterized by mild itching and irritation of the eyes and eyelids. Untreated or repeat infections leads to scarring around the eyelids, eyelashes turning inwards, and development of corneal ulcers and blindness.
Main explanation
This patient suffers from a condition known as Trachoma. Trachoma is a contagious bacterial infection, caused by the organism Chlamydia trachomatis serotypes A-C. Chlamydia trachomatis is an obligate intracellular organism that is visible on Giemsa stainshowing intracytoplasmic inclusions. Although eradicated from North America, Trachoma is still the leading cause of preventable blindness worldwide with high incidents in areas such as Africa and the Middle East. Trachoma initially begins with a mild infection of the eyes, causing irritation to the eyes and eyelids, with discharge from the eyes. As the infection progresses, the patient experiences gradual eye pain and vision loss. The eyelids continue to scar, and the eyelashes turn inwards, a condition known as trichiasis, which further causes damage to the cornea. Repeat infections or an untreated case will lead to corneal ulcers and blindness. Trachoma is treated with topical and systemic tetracycline, doxycycline, or erythromycin.
Cataracts
Cataracts is characterized by opacification of the natural lens of the eye. There is a loss of visual acuity that progresses slowly over many years. Patients complain of glare and difficulty driving at night, making it the incorrect answer choice. Treatment involves the surgical removal and replacement of the lens.
Amaurosis fugax
Amaurosis fugax is characterized by a sudden, transient monocular loss of vision due to embolization of cholesterol plaque from the carotid arterial system with retinal ischemia. The vision loss is transient in nature, lasting typically up to 30 minutes, making it the incorrect answer choice.
Allergic conjunctivitis
Allergic conjunctivitis is common in patients with atopic diseases. It usually occurs during the spring and summer months due to pollen, grasses, and plant allergens. It is characterized by redness, itching, tearing, nasal conjunctivitis, and eyelid oedema, making it the incorrect answer choice. Treatment includes cool compresses and antihistamines.
Horner syndrome
Horner syndrome results from a lesion in the cervical sympathetic pathway. It is characterized by ipsilateral ptosis, miosis, and anhidrosis, making it the incorrect answer choice. Most cases of Horner’s syndrome are idiopathic. Other causes include Pancoast tumor, internal carotid dissection, brainstem infarct, tabes dorsalis, and cervical vertebral fractures.
Question 6.
A 36-year-old man comes to the office complaining of feeling cold for the past 7 months. He says that he has been using less air conditioning this summer and is always dressed in layers at work. He reports a 3.6-kg (8-lb) weight gain over the past year and says he notices some blood on the toilet paper occasionally from straining to pass his stools on the toilet. Which of the following is the most appropriate initial test to order?
Fine needle aspiration biopsy
Fine needle aspiration biopsy is used in the workup of thyroid nodules and masses, and would not be an appropriate first step for this patient.
Radioiodine scan
Radioiodine scan is used in the workup of thyroid nodules and masses, and would not be an appropriate first step for this patient.
Thyroid stimulating hormone (TSH) level
Major takeaway
The best screening test for suspected hypothyroidism is a TSH level. TSH would be elevated in the case of a primary hypothyroid disease such as Hashimoto thyroiditis.
Main explanation
This patient has a classic clinical presentation of hypothyroidism. Characteristic symptoms include weight gain, cold intolerance, and constipation, as seen in this patient. Other common manifestations include fatigue, weakness brittle hair and nails, and depression. The best screening test for suspected hypothyroidism is a TSH level. Levels of TSH indicate whether there is primary thyroid disease; TSH would be elevated in the case of a primary hypothyroiddisease such Hashimoto thyroiditis, as in this patient. Alternatively, TSH levels would be low in other types of primary thyroid disease, such as Graves disease, in which there is an overproduction of thyroid hormone and thus symptoms of hyperthyroidism.
Total thyroxine (T4) level
Although levels of T4 would be expected to be low in most forms of hypothyroidism, this test would not help indicate the underlying cause of the disease.
Total triiodothyronine (T3) level
Although levels of T3 would be expected to be low in most forms of hypothyroidism, this test would not help indicate the underlying cause of the disease.
Question 7.
A 17-year-old girl comes to the clinic because she would like to request medication to make her grow taller. She has always been shorter than her classmates and appears young for her age. She receives good grades in school and has many friends. She has never had a menstrual period. Her medical history is noncontributory. Her parents are both of normal stature. She is 140 cm (4 ft 7 in) tall, weighs 43-kg (95-lb); BMI is 22 kg/m2. Her temperature is 37.0°C (98.6°F), pulse is 78/min, respirations are 12/min, and blood pressure is 154/92 mm Hg. Physical examination shows a wide-based neck, short stature, and Tanner stage 1 development of her breasts and genitalia. Which of the following is the most likely diagnosis?
Achondroplasia
Achondroplasia is caused by a defect in the fibroblast growth factor receptor 3 and is characterized by the resultant short stature with a normally sized head and torso.
Gonadal dysgenesi
Major takeaway
Gonadal dysgenesis is characterized by hypoplasia of the gonads in a male or female, often due to a sex chromosome disorder. The two most notable conditions in which it occurs are Turner syndrome and Klinefelter syndrome.
Main explanation
Gonadal dysgenesis is characterized by hypoplasia of the gonads in a male or female, often due to a sex chromosome disorder. The two most notable conditions in which it occurs are Turner syndrome and Klinefelter syndrome. As the gonads contain far fewer germ cells than would normally be present, they are largely composed of fibrous tissue, thus they are often referred to as streak gonads for the less rounded appearance. The lack of adequate functional gonadal tissue prevents the development of secondary sexual characteristics, so if these patients have not been diagnosed prior to their teenage years, the absence of changes associated with puberty may lead to a diagnosis.
Normal development
Though a wide range of normal height exists, this girl’s short stature in conjunction with the rest of her physical findings and history suggest Turner syndrome.
Osteogenesis imperfecta
Osteogenesis imperfecta is a genetic condition caused by a defect in type 1 collagen formation, leading to weak bones that fracture easily. Multiple fractures can lead to short stature, especially if growth plates are involved
Poor nutrition
Though poor nutrition can certainly stunt growth and halt menstrual cycles if significant enough, this patient’s other history and physical examination findings are more suggestive of Turner syndrome.
Question 8.
A 5-week-old boy is seen at the pediatrics department after experiencing multiple long bone fractures. The parents explain that the patient has been seen by multiple pediatric orthopedists after three fractures in the past week. Child abuse is ruled out, and physical examination is otherwise normal, but a hearing test reveals significant hearing loss. Which of the following is the most likely diagnosis in this patient?
Rickets
Rickets is a defect in mineralization of bones due to a deficiency in vitamin D. Although an increased risk for fractures is seen, this is a concern when there are signs of severe malnourishment in the baby or pregnant mother.
Osteogenesis imperfecta
Major takeaway
Osteogenesis imperfecta manifests as multiple fractures with minimal trauma, hearing loss, and blue sclera due to an autosomal dominant defect in type I collagen production.
Main explanation
Osteogenesis imperfecta is an autosomal dominant bone disorder that causes impaired type I collagen production. Most cases are due to mutations in the COL1A1 or COL1A2 genes, genes responsible for the production of type 1 collagen. Type 1 collagen is especially significant in the strength of bone. This defect leads to brittle bone disease, which causes a higher susceptibility to fractures. Patients, for example, can suffer from multiple fractures even with minimal trauma. This often can be confused with child abuse. However, other common symptoms include blue sclera, dental imperfections, and hearing loss. There is no treatment forosteogenesis imperfecta, but treatment is aimed at preventing fractures and maintaining mobility.
Alport syndrome
Alport syndrome is an inherited defect in type IV collagen, resulting in glomeruloneuphritis, end-stage kidney disease, and hearing loss. Blood in urine is a classic sign, and symptoms often appear in young adults, not newborns.
Osteomalacia
Osteomalacia is the defect in mineralization of bones to inadequate levels of calcium resorption, vitamin D, and phosphate. This condition is similar to rickets seen in children, but osteomalacia is often categorized as the adult condition.
Schwannoma
Schwanommas are benign tumors of Schwann cells, which myelinate the peripheral nervous system. It most commonly can affect CN VIII at the cerebellopontine angle, resulting in tinnitus and hearing loss. They are slowly developing so it would less likely affect an infant.
Question 9.
A 27-year-old woman, gravida 1, para 0 at 38 weeks gestation comes to the delivery suite for assessment of labour. An hour ago, she was laughing and felt a small gush of fluid run down her leg. She states that that the fluid may have been urine, but that she wants some reassurance that she has not ruptured her membranes. She has not felt any contractions. Which of the following test results most likely indicates that patient’s amniotic membranes have ruptured?
Fishy smell when potassium hydroxide is added to fluid from the vaginal vault
Adding potassium hydroxide to vaginal fluid is called the “whiff” test. If this produces a fishy odor then the test is considered to be positive. The whiff test is used to diagnose bacterial vaginosis and has no role in diagnosing premature rupture of membranes.
Negative fern test of fluid from the vaginal vault
The fern test, occurs when a drop of the fluid is placed on a glass slide and allowed to dry, it will reveal a fern pattern when examined under the microscope. In premature rupture of membranes, the fern test would be positive.
Negative fetal fibronectin
Fetal fibronectin (fFN) is a fibronectin protein produced by fetal cells. It is found at the interface of the chorion and the decidua(between the fetal sac and the uterine lining). A negative result means that there is little possibility of preterm labour within the next 7 to 10 days.
Positive nitrazine paper test of fluid from the vaginal vault
Major takeaway
Premature rupture of membranes is the rupture of membranes at least an hour before the onset of labor. The alkaline nature of amniotic fluid will turn nitrazine paper blue when it is exposed to the fluid (a positive test result) – this indicates that the amniotic membranes have broken.
Main explanation
Premature rupture of membranes is the rupture of membranes at least an hour before the onset of labor. It can be diagnosed in several ways. Speculum exam may reveal pooling of fluid in the vaginal vault. The alkaline nature of amniotic fluid will turn nitrazine paper blue when it is exposed to the fluid (a positive test result). If a drop of the fluid is placed on a glass slide and allowed to dry, it will reveal a fern pattern when examined under the microscope (a positive fern test). If the diagnosis is still unclear following these tests, ultrasound assessment of the amniotic fluid may be performed.
Wet mount of fluid from the vaginal vault showing clue cells
Clue cells are indicative of a bacterial vaginosis infection and their presence is not used to diagnose premature rupture of membranes.
Question 10.
A 14-month-old African-American infant is brought to the pediatrician because of progressive swelling for a week. Medical history is non-contributory. Examination shows the patient is at the 5th percentile for height and weight. There is also moderate periorbital and pedal edema. Urinalysis shows 4+ proteinuria with no blood or red cell casts. Laboratory tests show serum albumin is 2.0 g/dL and 24-hour urinary protein excretion is 4.5 g. Renal biopsy is shown below. Which of the following is the most appropriate initial treatment?
Calcineurin inhibitors
Calcineurin inhibitors may be used for focal segmental glomerulosclerosis with or without steriods in patients with at high risk for glucocorticoid-induced toxicity (i.e. patients with diabetes, osteoporosis or obese patients).
Glucocorticoids
Major takeaway
Nephrotic syndrome as a result of focal segmental glomerulosclerosis (FSS) can be treated with oral glucocorticoids (eg, prednisone). This therapy is used for at least 8 to 16 weeks as initial immunosuppression.
Main explanation
The infant described above has nephrotic syndrome. The four signs and symptoms of nephrotic syndrome include edema, hyperlipidemia, hypoalbuminemia, proteinuria. Nephroticrange proteinuria is greater than 3.5 g/24 hour period. The histology image above shows a focal area of collagenous sclerosis. In FSGS, as the name suggests, only some glomeruli are affected (focal) and just some of the affected glomeruli are diseased (segmental).
Such patients have a poor prognosis without disease-modifying therapy. The majority of patients with primary FSGS present with nephrotic syndrome and a biopsy showing diffuse foot process effacement, or else develop nephrotic syndrome soon after biopsy. In previously untreated patients, oral glucocorticoids (eg, prednisone) can be used for at least 8 – 16 weeks as initial immunosuppressive therapy.
In patients with histologic evidence of extensive glomerulosclerosis and interstitial fibrosis, they are not usually started on treatment since these findings suggest irreversible damage.
The goal of therapy is remission of proteinuria.
The patient in this vignette is Gary Coleman. The actor, who died at age 41, suffered from focal segmental glomerulosclerosis (FSGS) since infancy, which accounts for his short stature. He had two kidney transplants, in 1973 and 1984, but still required dialysis.
Kidney transplant
Kidney transplant may be used if a patient with focal segment glomerulosclerosis is refractory to treatment, and if that patient develops end-stage renal disease as a result. However, as a start, patients should be started on disease-modifying therapy with glucocorticoids.
Rituximab
Rituximab is a monoclonal antibody against the protein CD20, and may be used in steroid-dependent or steroid-resistant cases of focal segmental glomerulosclerosis but is not currently a first line treatment.
Intravenous albumin
Some patients with focal segmental glomerulosclerosis and intractable edema may need intravenous albumin. This is not an initial treatment and protracted use of intravenous albumin should be discouraged; the regimen is expensive and ineffective, because most of the infused albumin is lost in the urine.
