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Forwarded from MohammaDJ
🇨🇦 MCCQE1,2 | #Case_31


A 35-year-old male patient presents to your office complaining of flushing episodes. These episodes occur several times per day, without any apparent trigger and last for a few minutes. During these episodes, his skin becomes extremely red with burning sensation. The patient states that over the past few weeks, he had watery diarrhea, few times a day,
associated with severe abdominal colic. The past medical and surgical history is otherwise normal.On physical examination, the patient appears comfortable. Vital signs: Temp of 37°C, BP is 130/85 mmHg, pulse is
80/min and respiratory rate is 14/min. Occasional wheezes are heard on lung auscultation. The abdomen is soft and non tender with hyperactive bowel sounds.
Which of the following is the best initial test to order for this patient?


a) 24-hour urine 5-HIAA (5-hydroxyindolacetic acid)
b) 24-hour urine cortisol
c) 24-hour urine vanillymandelic acid and catecholamines levels
d) Blood serotonin level
e) Insulin, glucose and C-peptide serum leve
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A

🔎 Explanation

Carcinoid syndrome is the most likely diagnosis of the patient’s condition. Carcinoid syndrome is characterized by: flushing episodes, diarrhea, wheezing and right sided cardiac valvular lesions caused by the released hormones, especially serotonin. Any patient presenting with an unexplained flushing and diarrhea should be tested for urine 5-HIAA (5- hydroxyinolacetic acid) (choice A). This is a very sensitive and specific test.

24-hour urine cortisol (choice B) would be appropriate if Cushing’s syndrome is suspected.

24-hour urine vanillymandelic acid and catecholamines levels (choice C) would be appropriate if pheochromocytoma is suspected.

Although it is highly specific, blood serotonin level (choice D) is not a sensitive as the blood level fluctuates constantly; thus, should not be ordered initially.

Insulin, glucose and C-peptide serum level (choice E) would be appropriate if insulinoma is suspected.
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🇨🇦 MCCQE1,2 | #Case_32

One week after diagnosis, a patient with rheumatoid arthritis was brought to hospital with chest pain, fever, and nausea. He indicated that his last meal was about 24 hours ago and that he is on Aspirin 600mg 4-hourly.
Physical examination showed the following: heart rate 88 beat per minute, respiratory rate 23 per minute, blood pressure 125/65 mmHg and body temperature 38.1°C. Chest examination revealed signs suggestive of pneumonia. No joint swelling could be demonstrated and the rest of physical examination was normal. With appropriate work-up, myocardial
infarction was excluded and pneumonia was diagnosed. Blood gas analysis was as follows:
pH 7.50
PaO2 67mmHg
PaCO2 25mmHg
[HCO3-] 19mmol/L
Which of the following factors is least likely to play a role in the etiology of the acid-base disturbance in this patient?


a) Fever
b) Chest pain
c) Low PaO2
d) Salicylate ingestion
e) Starvation
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E

🔎 Explanation

Starvation (choice E) is unlikely to play a role in the etiology of the acid-base disturbance in this patient. The high pH, low PaCO2 and the appropriately low [HCO3-] point towards compensated respiratory alkalosis. On the other hand, starvation is usually associated with metabolic acidosis due to accelerated fatty acid metabolism, which results in accumulation of ketoacids. If metabolic acidosis were superimposed on respiratory alkalosis in this patient, [HCO3-] would be even lower for the PaCO2 reported.

High body temperature as in fever (choice A) is known to stimulate ventilation, which will washout CO2 resulting in respiratory alkalosis. This results from direct effect of high core temperature on the medullary respiratory center.

Chest pain (choice B) is known to stimulate ventilation and washout CO2 resulting in respiratory alkalosis. Pain does this by stimulating sensory afferents in the chest that project to high cortical centers which modulate ventilation.

Low PaO2 (choice C) stimulates ventilation through peripheral chemoreceptors. This would washout CO2 and cause respiratory alkalosis. The response of ventilation to PaO2 becomes more effective when pressure drops below 60mmHg.

Salicylate ingestion (choice C) is a likely contributory factor to the etiology of respiratory alkalosis in this patient. Salicylates are known to directly stimulate the respiratory center resulting in increased ventilation and washout of CO2. This is the reason why respiratory alkalosis is an early sign of salicylate poisoning.

Key point:
Respiratory alkalosis can be caused by common factors like fever, chest pain, and hypoxemia or drugs like salicylates
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🇨🇦 MCCQE1,2 | #Case_33

A 17-year-old female presents with her mother to the general hospital stating that she has yet to have menses. They
report that during the patient’s childhood some genital abnormalities were found, but after appropriate counseling they chose to wait until adolescence “brought some clarification” before taking any further steps in management. Her breasts began to develop at the age of 13.Her vital signs are 110/65mmHg, temperature is 37.2°C, heart rate is 85 bpm, and respirations are 15/min. Her BMI is 19 kg/m², she lacks pubic and axillary hair, and breasts exhibit Tanner stage IV development. External genitalia examination demonstrates an enlarged clitoris, a rugose labia, and a bifid scrotum but no uterus is found on ultrasound.
This patient’s diagnosis would be best confirmed by which of the following studies?


a) Serum follicle- stimulating hormone and karyotype
b) Serum 17-hydroxyprogesterone and urinary pregnanetriol
c) Serum testosterone, dihydrotestosterone, and karyotype
d) MRI urography and follicle-stimulating hormone
e) Serum 5-alpha reductase and brain MRI
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C

🔎 Explanation

This patient is a female and is presenting with primary amenorrhea, as she has passed age 16 without menses while having some secondary sexual characteristics present. The differential diagnosis in a phenotypically female patient with absent uterus, breasts, and primary amenorrhea is Mülerian agenesis and androgen insensitivity. Given the description of this patient’s genitalia of a labio-scrotal fusion, an androgen insensitivity grade 3-4 on Quigley scale is more likely (also known as partial androgen insensitivity). The most appropriate studies to confirm the diagnosis would be serum testosterone, dihydrotestosterone, and karyotype (choice C). If the patient has male-appropriate testosterone levels, a
diagnosis of androgen insensitivity would be even more likely and this would be finally confirmed with a 46 XY
karyotype. On the other hand, if the patient has female-appropriate testosterone levels, a diagnosis of Mülerian agenesis would be likely and this would be confirmed with a 46 XX karyotype.

Serum follicle-stimulating hormone (FSH) and karyotype (choice A) is incorrect. Serum FSH should be ordered in the work up of amenorrhea when the uterus is present and pregnancy tests are negative. High FSH levels would suggest conditions such as Turner syndrome, which would be confirmed with karyotype and low FSH would suggest conditions such as Kallman syndrome and would be confirmed with a brain MRI.

Serum 17-hydroxyprogesterone and urinary pregnanetriol (choice B) are very significant in the diagnosis of congenital adrenal hyperplasia of 21-hydroxylase deficiency. In addition to ambiguous genitalia, patients with this condition have abnormal blood pressure, potassium, and sodium.

MRI urography and follicle-stimulating hormone (choice D) is incorrect. While MRI urography is important in the work up of Müllerian agenesis, at this point, the best studies should also include the possibility of androgen insensitivity. Follicle-stimulating hormone measurements would be the wrong choice.

Serum 5-alpha reductase and brain MRI (choice E) is incorrect. While 5-alpha reductase deficiency presents with ambiguous genitalia with some characteristics similar to what is described in this patient, at this point karyotype and serum testosterone levels measurements would be more inclusive in exploring possibilities presented by the differential diagnosis. Brain MRI is clearly the wrong choice in the work up of this patient.


Key point:

Ambiguous genitalia is a disorder of sexual development with a wide range of differential diagnosis. In a phenotypically female with developed breasts, absent uterus, and amenorrhea, the differential diagnosis includes Mülerian agenesis and androgen insensitivity. Appropriate tests to distinguish the two are testosterone level measurements and karyotype.
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🇨🇦 MCCQE1,2 | #Case_34

A 70-year-old female patient comes to your office complaining of nausea and early satiety of two months duration. Every time she eats, she feels bloated rapidly, she nauseates and sometimes vomits. She denies any pain in the abdomen or any heartburn symptoms. Her past medical history is significant for diabetes mellitus diagnosed 20 years ago. She stopped the oral hypoglycemic drugs 2 years ago and began taking insulin regularly.Her vital signs are within normal limits and the physical exam is unremarkable. What is the most appropriate next step in he management of this patient?

a) Cisapride
b) Domperidone
c) Metoclopramide
d) Omeprazole
e) Triple antibiotics for H. pylori
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C

🔎 Explanation

The patient is most likely suffering from autonomic neuropathy causing gastroparesis which most commonly presents with anorexia, nausea, vomiting, abdominal bloating and early satiety. The best management for this condition is to take small frequent meals, improve glycemic control and take metoclopramide (choice C).


Cisapride (choice A) is a serotonin agonist drug that is very effective for gastroparesis but it is not recommended initially. It is advised in resistant cases because it can increase the risk of cardiac arrhythmias.

Domperidone (choice B) is a prokinetic and antiemetic drug that may be used for gastroparesis; however, it is much less effective than metoclopromide.

Omeprazole (choice D) and H. pylori treatment (choice E) would be appropriate for peptic ulcer disease not
gastroparesis
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🇨🇦 MCCQE1,2 | #Case_35

A 20-year-old male college student presents to your department with complaints of fever and headache for 2 days. While in the office he mentions that the light is very disturbing to his eyes.Vital signs are: temperature 39.2°C, BP 115/65 mmHg, heart rate 85 bpm, and respirations 16/min. Petechial rash is noted on the patient’s legs and arms. Nuchal rigidity is also observed. Which of the following CSF findings are most likely to be consistent with this patient’s condition?

a) WBC 5/mm³ with 60% neutrophils; glucose 55mg/dL; protein 75 mg/dL
b) WBC 2500/mm³ with 85% neutrophils; glucose 35 mg/dL; protein 70 mg/dL; Gram negative diplococcus
c) WBC 500/mm³ with 80% lymphocytes; glucose 55mg/dL; protein 70 mg/dl; Herpes simplex virus DNA
d) WBC 3000/mm³ with 90% neutrophils; glucose 30 mg/dL; protein 75 mg/dL; Gram positive cocci
e) WBC 1000/mm³ with 85% lymphocytes; glucose 55 mg/dL; protein 65 mg/dL; Cryptococcal antigen
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B

🔎 Explanation

This patient’s symptoms of fever, headache, and photophobia combined with the findings on physical examination like nuchal rigidity and petechial rash are suggestive of meningococcal meningitis. In meningococcal meningitis caused by Neisseria meningitidis, above 60% of adult patients have petechial rash, which is a distinctive finding from meningitis caused by other infectious agents.Laboratory examination of the CSF is the best way to confirm the diagnosis of meningitis. In a case of bacterial meningitis it is established by:

🔹Increased opening pressure ( > 180 mm water)
🔹Pleocytosis of polymorphonuclear leukocytes (white blood cell counts between 10 and 10,000 cells/mm³, predominantly neutrophils above 60%)
🔹 Decreased glucose concentration ( < 45 mg/dL)
🔹Increased protein concentration ( > 45 mg/dL)

Neisseria meningitidis, which is the most likely infectious agents in this case, is a gram-negative diplococcus; this makes WBC 2500/mm³ with 85% neutrophils; glucose 35 mg/dL; protein 70 mg/dL; Gram negative diplococcus (choice B) the CSF findings most consistent with this patient’s condition.

WBC 5/mm³ with 60% neutrophils; glucose 55mg/dL; protein 75 mg/dL (choice A) shows normal cell count, normal glucose, and elevated protein, which is known as cyto-albuminological dissociation, a finding most likely linked with Guillain-Barré syndrome.

WBC 500/mm³ with 80% lymphocytes; glucose 55mg/dL; protein 70 mg/Dl; Herpes simplex virus DNA (choice C) shows what would be found in herpes simplex virus encephalo-meningitis. This patient’s condition is most likely caused by Neisseria meningitidis.

WBC 3000/mm³ with 90% neutrophils; glucose 30 mg/dL; protein 75 mg/dL; Gram positive cocci (choice D) would be consistent with Streptococcus pneumonia meningitis. It is the most common cause of bacterial meningitis and the risks are increased in children aged between 1 year and 5 years of age and adults older than 55-65 years. College-age adults who live in dormitories are at increased risk of Neisseria meningitidis infection and this patient’s petechial rash in addition to other aspects of his clinical presentation is pathognomonic for meningococcal meningitis.

WBC 1000/mm³ with 85% lymphocytes; glucose 55 mg/dL; protein 65 mg/dL; Cryptococcal antigen (choice E) would be most consistent with Cryptococcus meningitis, which is more likely to occur in immunocompromised patients such as those affected with AIDS.


Key point:
Symptoms of fever, headache, photophobia and physical examination of nuchal rigidity and petechial rash are suggestive of meningococcal meningitis. CSF studies show elevated WBC with neutrophil predominance, elevated protein, decreased glucose, and the presence of gram-negative diplococcus
Forwarded from MohammaDJ
🇨🇦 MCCQE1,2 | #Case_36

A 28-year-old male who is known by your department for heroin abuse presents with complaints of severe abdominal pain that radiates to the groin. He has elevated blood pressure, tachycardia, tachypnea, and microscopic hematuria. He appears in acute distress, has no visible trauma, and refuses physical examination because of the extreme pain. Which of the following options is the best next step in the management of this patient?

a) Tell the patient that without physical examination you won’t be able to treat him
b) Tell the patient that he is going to be taken to the radiology room for abdominal CT scan
c) Tell the patient that he is going to have an abdominal ultrasound to diagnose his condition
d) Offer the patient high dose analgesics despite the fact that he is a narcotic abuser
e) Give oral codeine as it has less potential for abuse until you determine the diagnosis
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D

🔎 Explanation

This patient is known to abuse narcotics and is complaining of severe abdominal pain that radiates to the groin, has elevated blood pressure, tachycardia, tachypnea, and microscopic hematuria. The combination of these symptoms, vital signs, and dipstick findings is unlikely to be a product of malingering. Therefore, at this point, the presumptive diagnosis of nephrolithiasis should be considered and the patient should receive analgesia just as any other patient who is not a narcotic abuser would. The most appropriate next step in management is to offer high dose analgesics (choice D).

Tell the patient that without physical examination you won’t be able to treat him (choice A) is incorrect. The severity of this patient’s pain is most likely real and based on other findings, it would be inappropriate to refuse giving pain relief to this patient.

Tell the patient that he is going to be taken to the radiology room for abdominal CT scan (choice B) is incorrect. This patient is unlikely to tolerate being taken for abdominal CT scan until his pain is controlled. It is unethical to prolong the patient’s excruciating pain when it is almost obvious that he is suffering from renal colic.

Tell the patient that he is going to have an abdominal ultrasound to diagnose his condition (choice C) is incorrect. The most appropriate next step is to alleviate the patient’s pain before doing any imaging study.

Give oral codeine as it has less potential for abuse until you determine the diagnosis (choice E) is incorrect. While codeine is a low potency opioid with less potential for abuse, it is used for mild and moderate pain and is not the best option for this patient’s excruciating pain. According to the WHO pain ladder for guidance on correct use of analgesics, they should be prescribed according to pain intensity as evaluated by a scale of intensity of pain. This patient should be given analgesics based on his own perception of the pain and not the healthcare staff’s perception of the pain.


Key point:
A patient (whether a drug-addict or not) in severe pain, such as renal colic, should receive pain treatment with high dose high potency opioid
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🇨🇦 MCCQE1,2 | #Case_37

A 49-year-old male is brought to the emergency department by his son after three episodes of vomiting bright red blood. He says that he has vomited “quite large amounts” though he is not sure he can specify the quantity. He denies dark stool, blood in stool, or diarrhea. He has not vomited since he arrived at the emergency department. He had never had a similar episode in the past. He was diagnosed of liver cirrhosis 2 years ago secondary to alcoholic liver disease.The patient is alert to person, place, and time. His vital signs are temperature 37.4°C, blood pressure 85/60 mmHg, pulse 120 bpm, and respirations 20/min. His abdomen is dull to percussion. A nasogastric tube is inserted, and bright red blood is found when stomach contents are aspirated. Which of the following are the most appropriate next steps in management of this patient?

a) Intravenous normal saline and terlipressin
b) Octreotide and selective decompressive shunts
c) Norepinephrine and endoscopic sclerotherapy
d) Propranolol and omeprazole
e) Normal saline and devascularization of lower esophagus
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🇨🇦 MCCQE1,2 | #Case_37 | #answer


A

🔎 Explanation

This patient has an upper gastrointestinal bleeding as suggested by the history and nasogastric tube aspiration. Given his underlying condition of liver cirrhosis, the most likely cause of his presentation is esophageal varices, a consequence of portal hypertension. Patients with esophageal varices have a strong tendency to develop bleeding. Because this patient is not currently vomiting, is alert to person, place and time, airways and breathing are not as big of a concern as his hemodynamic instability. The initial management, therefore, should be intravenous normal saline and vasopressin analogues such as terlipressin (choice A).

The initial goal is to avoid prolonged hypotension and maintain systolic blood pressure around 100 mmHg, this is also particularly important in preventing renal failure and infection. Vasopressin (terlipressin) has been used in these scenarios for many years. It blunts the increase in portal hypertension induced by volume expansion. It is believed that this effect is achieved by its direct vasoconstrictor activity on splanchnic arterioles and precapillary sphincters, with secondary reduction in portal venous blood flow and variceal pressure. Its side effects include increased peripheral vascular resistance, reduced cardiac output, and decreased coronary blood flow. Studies have shown that these side effects are best prevented by the use of vasopressin in combination with glyceryl trinitrate.

Octreotide and selective decompressive shunts (choice B) is incorrect. Octreotide is considered the first step in management of hemodynamically stable patients. While a surgical shunt provides better control of rebleeding when compared to the combination therapy of beta-blocker and endoscopic variceal ligation, it would not be the best next step in the management of this patient.

Norepinephrine and endoscopic sclerotherapy (choice C) is incorrect. Endoscopic sclerotherapy is a secondary prophylaxis performed at weekly intervals to prevent bleeding. This patient needs to be stabilized first.

Propranolol and omeprazole (choice D) is incorrect. Propranolon and nadolol significantly reduce the risks of bleeding and are used as prophylaxis against esophageal varices bleeding, but they have no role in a patient with acute bleeding. Omeprazole is beneficial in patients treated with endoscopic variceal ligation who develop ulcers as complications; it has no role in the management of acute variceal bleeding.

Normal saline and devascularization of lower esophagus (choice E) is incorrect. While normal saline would be a good initial step in management, devascularization of lower esophagus is rarely performed and is reserved for patients with portal and splenic vein thrombosis who are not suitable candidates for shunt procedures and who continue to have variceal bleeding despite endoscopic and pharmacologic treatment.


Key point:

Portal hypertension is associated with esophageal variceal bleeding. Patients who present with significant bleeding and hemodynamic instability should first be managed with intravenous normal saline and vasopressin analogues.
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🇨🇦 MCCQE1,2 | #Case_38

A 52-year-old man presents to the clinic with history of cough of 2 weeks duration. Cough is non-productive and non-spasmodic. He has received a course of amoxicillin for five days with no relief. There is no history of fever or weight loss. He is non-diabetic and smokes 2 packs a day for past 30 years.There is no abnormality detected on physical examination. His complete blood count is within normal limits and his erythrocyte sedimentation rate (ESR) is 45mm in first hour by Westergren method. Chest CT scan shows a contrast enhancing solitary nodule measuring 2 cm in the inferior lobe of left lung. A chest radiograph done 2 years prior was reported to be normal.
What is the most appropriate next step in management of this patient?


a) Repeat chest CT scan in 3 months
b) Repeat chest CT scan in 6 months
c) Biopsy of the lesion
d) Mantoux test (Tuberculin test)
e) Chest Magnetic Resonance Imaging scan
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🇨🇦 MCCQE1,2 | #Case_38 | #answer


C

🔎 Explanation

Evaluation guidelines for solitary pulmonary nodule are based on nodule size and patient’s risk factors for cancer. Nodule diameter of 8mm or more, ‘ground glass’ opacity, irregular borders and doubling of size in one month to one year, are pointers to malignancy. History of smoking, old age, and extra-pulmonary malignancy are considered as risk factor for cancer.History of smoking and nodule of more than 8mm in the case described in the stem, indicate high probability of malignancy. Hence, biopsy of the lesion (choice C) is the most appropriate measure for accurate diagnosis.Most solitary pulmonary nodules are benign lesions, such as infectious granulomas and hamartomas. Malignant lesions include lung cancer, carcinoid tumor or metastasis. Survival rates of lung cancer are very low but early diagnosis can improve prognosis.

Solitary nodule smaller than 8mm on a CT scan, in a person with high risk for malignancy, can be followed by repeat
CT scan at 3-6 months, (choice A and B) and again at 12 and 24 months if the lesion remains stable. This is not relevant to the case described as the lesion size is 20mm. Solitary nodule smaller than 8mm on a CT scan in a person with low risk of malignancy, can be followed by repeat CT scan at 6-12 months. If there is no change in size at 12 months, no further
follow up is indicated.

Positive Mantoux test (choice D) is a pointer to the diagnosis of tuberculosis but it does not rule out the possibility of neoplastic lung lesion.

Chest MRI (choice E) is indicated when it is not possible to do CT chest for reasons such as contrast allergy or renal insufficiency.


Key point:
Any patient with evidence of large pulmonary nodule or nodule with notable growth during follow-up should undergo biopsy for diagnosis.
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🇨🇦 MCCQE1,2 | #Case_39

A 5-year-old is brought to your department because of fever and headaches. He has had these symptoms for the last 48 hours and initially parents gave him Tylenol but he seems to be getting worse. The child’s immunization scheduled was not properly followed. His vital signs are: temperature 39.9°C, blood pressure 105/65 mmHg, pulse 100 bpm, and respirations 19/min. On physical examination he has no petechial rashes, his skin is warm, and nuchal rigidity is noted. CSF studies reveal elevated neutrophil count, elevated protein, and decreased glucose. Which of the following is the most common complication to be evaluated on his 6-week-treatment follow-up appointment?

a) Subdural effusions
b) Rheumatic heart disease
c) Hearing loss
d) Cortical blindness
e) Postinfection glomerulonephritis
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C

🔎 Explanation

This child’s symptoms of fever, headache, and the findings on physical examination of nuchal rigidity are suggestive of meningitis. The CSF studies with elevated neutrophil, increased protein, and decreased glucose point to bacterial meningitis. Children who are not properly immunized are particularly at risk. Bacterial meningitis can have serious sequelae even after appropriate treatment. Sensorineural hearing loss (choice C) is noted in 20% to 30% of Hemophilus influenza meningitis survivors. Audiologic assessments are recommended in these patients in 4 to 6 weeks after antibiotic treatment clears the infection. There are other possible complications such as hydrocephalus, cortical blindness, epilepsy, behavioral changes, motor coordination, and intellectual disability; however, the most common complication that should be assessed 6 weeks after treatment is hearing loss.

Subdural effusions (choice A) are asymptomatic complications that generally resolve without neurological sequelae.

Rheumatic heart disease (choice B) occurs as a complication of group A Streptococcus pharyngitis. It is unlikely to be the cause of meningitis in children of this age. The most common causes are Pneumococcus pneumonia, Meningococcal meningitis, and Hemophilus influenza.

Cortical blindness (choice D) is a rare complication of meningitis. It is far less common than hearing loss.

Post-infection glomerulonephritis (choice E) is not known to be a complication of the major bacteria associated with meningitis in children of this age. It can occur in children with group A streptococcus.

Key point:

Bacterial meningitis is characterized by elevated neutrophil count, elevated protein, and decreased glucose in the CSF. Neurologic complications are common and the most common neurologic sequelae is sensorineural hearing loss and children should have audiologic assessment 4 to 6 weeks after treatment.
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🇨🇦 MCCQE1,2 | #Case_40

A 20-year-old female presents to your department with difficulty speaking, excessive salivation, and clumsiness with the hands. She takes no medications except oral contraceptive pills. Family history is significant for a paternal uncle who had a similar condition and died at the age of 48.Physical examination reveals mild spasticity at the knees. Slit lamp examination shows a hyperpigmented ring around the iris. Liver function tests shows ALT: 108 U/L and AST: 97 U/L.
After the patient's diagnosis is made and treatment is started, which of the following test would be the best to monitor therapy?


a) Genetic testing
b) Serum ceruloplasmin
c) Abdominal CT scan
d) Urinary copper excretion
e) Cerebrospinal fluid studies
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D

🔎 Explanation

The neurological symptoms described in this patient of difficulty speaking and clumsiness with the hands combined with the findings of spasticity at the knees, the Kayser-Fleischer ring noted on slit lamp examination, and the abnormal liver function tests all point to a diagnosis of Wilson disease. It is an autosomal recessive inheritance disease of the copper metabolism characterized by excessive deposition of copper in the liver, brain, and other tissues.Out of the choices given, urinary copper excretion (choice D) would be the best way to confirm it. In untreated patients, the 24-hour urinary excretion of copper reflects the amount of non-ceruloplasmin-bound copper in the circulation. Normally urinary copper excretion should not exceed 40 microgram/day but in patients with Wilson disease urinary copper excretion is above 100 microgram/day. Chelating agents such as D -penicillamine are therefore prescribed to promote 24-hour excretion of approximately 2 mg of copper in the urine, to induce a negative copper balance. Regular measurement of the 24-hour urinary excretion of copper provides an important index of copper removal from the body. If the excretion level in a compliant patient decreases to less than 0.5 mg daily, the dose can be lowered.

Genetic testing (choice A) is impractical in Wilson disease due multiplicity of mutations involved; about 200 mutations of the ATP7B gene have been identified and currently there are no commercially available genetic testing. It is not the best follow up test.

Serum ceruloplasmin (choice B) is considered useful in patients with classic symptoms and the Kayser-Fleischer ring -It is the major carrier of copper in the blood but is also present as the protein without copper the copper. It is an important test to order as initial test and in a patient with neurological symptoms it can point to the diagnosis; however, it is also an acute phase reactant that can increase in infections, hepatic inflammations, pregnancy, and estrogen use. It is also decreased in malnutrition, nephrotic syndrome, malabsorption, and protein-losing enteropathy. Serum ceruloplasmin levels would be unreliable in this patient, who is on oral contraceptive pills and is also not the best follow up test to monitor therapy.

Abdominal CT scan (choice C) is uninformative with findings neither specific nor sensitive for Wilson disease and would not be helpful as follow up test in a patient receiving therapy.

Cerebrospinal fluid studies (choice E) would not be useful in monitoring chelation therapy for Wilson disease in this patient
.

Key point:

Wilson disease is an autosomal recessive inheritance disease of the copper metabolism characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is treated with D-penicillamine, a copper chelating agent and the best test to monitor therapy is urinary copper excretion.
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🇨🇦 MCCQE1,2 | #Case_41

At a routine physical examination, the Pap smear of a 27-year-old woman shows evidence of marked inflammation suggestive of moderate dysplasia (HGSIL). Her last Pap smear 2 years ago was normal. Pelvic examination today is normal. She has never been pregnant and her menstrual periods are regular. She has been in a stable relationship with the same man for 3 years and she uses a diaphragm with spermicidal jelly for contraception. The best next step is to:

a) Advise the patient that her partner should use condoms for contraception and repeat the Pap smear in 3 months
b) Do colposcopic examination of the cervix after application of 5% acetic acid solution
c) Do conization of the cervix
d) Reassure the patient and repeat the Pap smear in 3 months
e) Treat the patient with metronidazole for 2 weeks and repeat the Pap smear in 3 months
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