Blackboard EMQs Endo Flashcards

Question

Mrs Y describes numbness and paresthesia in her right hand. She describes this as “coming on gradually over months”. The tingling wakes her at night and she has tried changing sleeping positions to no avail. She has come to the doctor now as her hand is becoming weak and she has dropped mugs several times. ``` Match the description to the relevant diagnosis. A. Abducens nerve palsy B. Occulomotor nerve palsy C. Commmon peroneal nerve palsy D. Symmetrical sensory polyneuropathy E. Sciatica F. Diabetic amyotrophy G. Amaurosis fugax H. Charcot joint I. Carpal tunnel syndrome J. Ulnar nerve palsy K. Retinopathy ```

Answer 1

I. Carpal tunnel syndrome Carpal tunnel syndrome is the most common nerve entrapment and women just past middle age are at the highest risk. Symptoms include numbness/tingling of the thumb and radial fingers, an aching wrist and clumsiness (especially with fine motor tasks). The symptoms are of gradual onset and often wake the patient up at night, and is relieved by shaking the wrist. Numbness is normally on the palmar aspect of the thumb, index and middle fingers (but not the little finger). When the patient wakes up, there may be difficulty flexing or extending fingers. Symptoms in the day tend to be associated with activity. The most sensitive and specific test for diagnosis is EMG and can confirm damage to the median nerve in the carpal tunnel and categorise the severity of the damage. There are specific tests for CTS such as Tinel’s test and Phalen’s test, though clinically these are not particularly useful due to sensitivity and specificity. CTS is caused by anything that causes a reduction in the size of the carpal tunnel – from inflammation, arthritis and tenosynovitis to old fractures. In CTS there is preserved sensation of the palm as the palmar cutaneous branch comes off a few cm above the carpal tunnel. Remember your anatomy in 2nd year? Probably not... but the median nerve lies in the carpal tunnel, deep to the flexor retinaculum and in the concavity bounded by the carpal bones. Other structures lying in the carpal tunnel include FPL, FDS and FDP.

Answer 2

E. Pharyngeal pouch A pharyngeal pouch is also called a Zenker’s diverticulum (it is a false diverticulum – i.e. it does not involve all layers of the oesophageal wall). The dehiscence of Killian lies in the posterior laryngopharynx which is where the wall herniates through giving an outpouching just above the cricopharyngeal muscle. It may help to gave a look at a picture in an anatomy textbook. A pharyngeal pouch can cause symptoms of dysphagia and the sensation of a lump in the neck. There may also be regurgitation of food, cough, halitosis and gurgling noises and the condition is associated with webs. Additionally, it may be asymptomatic. A barium swallow will confirm the dagnosis. Surgical intervetion may be necessary.

Answer 3

M. Hodgkin's lymphoma The history of weight loss here along with cervical lymphadenopathy point to lymphoma. Hodgkin’s is localised to a single group of nodes (normally the cervical and/or supraclavicular) and extranodal involvement is rare. Mediastinal involvement is common. Spread is contiguous and B symptoms may be present such as a low grade fever, weight loss and night sweats. Pruritis may be found in approximately 10% of cases but has no prognostic significance. 50% of cases is associated with EBV infection and distribution is bimodal with peaks in young and old. There is classically pain in lymph nodes on alcohol consumption. While this question does not specifically scream out Hodgkin’s (though the pattern of involvement makes it more likely), the question is not complicated by the option of NHL. Furthermore, this is patient is 19 and unlikely to have head and neck cancer causing local lymphadenopathy and infection does not explain the weight loss over 3 months.

Answer 4

K. Mumps Mumps is normally characterised by the hallmark finding of parotitis and swelling of the parotid gland(s) which is present in 95% of symptomatic mumps. Mumps epididymo-orchitis is also a common feature and is seen here as a tender scrotal swelling. The history this patient gives makes you think of an infection and the co-existent orchitis and neck lumps makes you think of mumps. Treatment of this viral infection involves isolation and supportive care with paracetamol or ibuprofen.

Answer 5

L. Lymphadenopathy secondary to malignancy This 58 year old male reports weight loss. Combined with the presence of Virchow’s node (Troisier’s sign), a hard enlarged node in the left supraclavicular fossa, this points towards a malignancy in the abdominal cavity. The lymph drainage of the abdominal cavity drains into Virchow’s node as the lymph drains most of the body from the thoracic duct and enters the venous circulation at the left subclavian vein. An enlarged right supraclavicular LN may indicate thoracic malignancies such as lung cancer. The mild URTI is a red herring.

Answer 6

D. Thyroglossal cyst This midline neck swelling moves up on both swallowing and tongue protrusion making this a thyroglossal cyst. It is a cyst that forms from a remnant thyroglossal duct and can hence develop anywhere along the length of this embryological duct, which is a midline structure between the foramen caecum at the back of the tongue and the thyroid gland.

Answer 7

F. Grave's disease This woman has symptoms of hyperthyroidism (weight loss and palpitations) and a goitre. In countries where sufficient iodine intake is not an issue, Graves’ disease is the most common cause of hyperthyroidism. Graves’ gives a diffuse goitre. Peripheral manifestations such as ophthalmopathy, pretibial myxoedema and hyperthyroid acropachy do not occur with other causes of hyperthyroidism. Ophthalmopathy includes lid retraction, exophthalmos and eye movement restriction leading to diplopia. Acropachy is an uncommon manifestation presenting as clubbing with soft tissue swelling. Pretibial myxoedema is almost always associated with ophthalmopathy. Treatment aims to normalise thyroid function and is achieved by radioactive iodine, antithyroid medications or with surgery. They are all effective and relatively safe options. Symptomatic therapy is given with beta blockers such as propranolol.

Answer 8

K. Thyroglossal cyst This midline neck swelling moves up on both swallowing and tongue protrusion making this a thyroglossal cyst. It is a cyst that forms from a remnant thyroglossal duct and can hence develop anywhere along the length of this embryological duct, which is a midline structure between the foramen caecum at the back of the tongue and the thyroid gland.

Answer 9

I. De Quervain's thyroiditis This girl has de Quervain’s thyroiditis (which can also be called subacute granulomatous thyroiditis) which is inflammation of the thyroid characterised by a triphasic course where there is transient thyrotoxicosis followed by a hypothyroid phase before a return to euthyroidism. The thyrotoxic phase (symptoms of hyperthyroidism may be present) is characterised by pain and tenderness of the thyroid, which tends to be larger, firm and tender to touch. This girl also has a fever and neck pain which is making it painful for her to swallow. This is a self-limiting condition and no specific treatment is needed though NSAIDs and beta blockers can be used for symptomatic relief. Roughly 30-40% describe a prior viral infection.

Answer 10

E. Hodgkin's disease This is a case of lymphoma. Reed-Sternberg cells are binucleate cells characteristically seen in Hodgkin’s lymphoma. Hodgkin’s is localised to a single group of nodes (normally the cervical and/or supraclavicular) and extranodal involvement is rare. Mediastinal involvement is common. Spread is contiguous and B symptoms may be present such as a low grade fever, weight loss and night sweats. Pruritis may be found in approximately 10% of cases but has no prognostic significance. 50% of cases is associated with EBV infection and distribution is bimodal with peaks in young and old. There is classically pain in lymph nodes on alcohol consumption.

Answer 11

J. Superior vena cava syndrome SVC syndrome occurs due to SVCO. The most common cause of this is malignancy (this smoker probably has lung cancer which is the most likely cause in those >50). There are also benign causes such as iatrogenically due to pacemaker leads and central venous catheters causing SVC thrombosis. Common symptoms are facial swelling and arm swelling as seen, as well as dyspnoea, cough and facial plethora. There may also be a headache, chest pain, blurry vision and stridor. These symptoms tend to be worse on bending forwards or lying down. The most useful imaging test is a chest CT with IV contrast which establishes the diagnosis and also shows the exact location of the pathology. A CXR in SVCO can show a widened mediastinum or the lung cancer which is the cause.

Answer 12

D. Hypothyroidism This medical student has hypothyroidism. Worldwide, the most common cause is iodine deficiency. Other causes include Hashimoto’s or secondary and tertiary hypothyroidism. It can also result from viral de Quervain’s thyroiditis or postpartum thyroiditis. Symptoms include those mentioned (weight gain, lethargy, sluggish reflexes, bradycardia and constipation) as well as depression, fatigue, constipation, cold intolerance, menstrual problems in females, dry skin and muscle cramps. Diagnosis is based on measurement of TSH and thyroid hormones. Treatment is by replacement of T4 with or without T3 in combination. If the patient has normal T3 and T4 but mildly elevated TSH, this is described as subclinical hypothyroidism.

Answer 13

l. Stomach cancer The presence of Virchow’s node (Troisier’s sign), a hard enlarged node in the left supraclavicular fossa, points towards a malignancy in the abdominal cavity. This is most often stomach cancer. The lymph drainage of the abdominal cavity drains into Virchow’s node as the lymph drains most of the body from the thoracic duct and enters the venous circulation at the left subclavian vein.

Answer 14

E. Fasting blood glucose For the diagnosis of DM, symptomatic patients need a single random blood glucose of >11.1 or single fasting glucose of >7. Asymptomatic patients need two separate elevated readings for a diagnosis. Alternatively if there are borderline results, an OGTT can be conducted to see if plasma glucose is raised >11.1 two hours after an oral glucose load of 75g. A patient is said to have impaired fasting glucose if fasting glucose falls between 6.1-6.9. Impaired glucose tolerance is present if plasma glucose 2 hours after oral glucose load in OGTT falls between 7.8-11.0. This patient most likely has new onset T1DM.

Answer 15

I. T3, T4 and TSH levels This patient has Graves’ disease. T3, T4 and TSH need to be measured. We would expect to find a suppressed TSH with elevated T3 and T4 (unless in T3 toxicosis).

Answer 16

B. Dexamethasone suppression test This patient has Cushing’s and will need a dexamethasone suppression test which is first line in anyone with suspected Cushing’s (unless they are on medications which will affect the result of the test), though alternatively a 24 hour urinary free coritsol and late night salivary cortisol can be done. The dexamethasone suppression test takes the form of either an overnight 1mg or a 48 hour 2mg test. Unsuppressed cortisol indicates Cushing’s syndrome.

Answer 17

D. Abdominal ultrasound This patient’s history makes you think PCOS. Hirsutism, irregular and infrequent periods and weight gain are all features, as are acne, scalp hair loss and infertility. Hypertension is sometimes associated with this syndrome. On examination, sweaty/oily skin may be found and acanthosis nigricans may also be seen. An ultrasound is by no means the first test to order, as 1/4 of normal women and women with other problems like hyperprolactinaemia may also have polycystic ovaries, and they are present in 3/4 of those with PCOS. Serum androgens can be measured or the diagnosis can be made clinically.

Answer 18

A. ACTH (synacthen) stimulation test Hyperpigmentation in the palmar creases points towards Addison’s disease. Hyperpigmentation due to excess ACTH production can be mucosal or cutaneous and is more pronounced in the palms, knuckles and around scars. MSH is a byproduct of the production of ACTH from the cleavage of POMC. Sodium is low and potassium elevated. Vomiting is present in 75% of patients and nausea is a common finding. Additionally, postural hypotension may be present. The presence of other autoimmune diseases is a risk factor for the development of Addison’s. Diagnosis of Addison’s can be made on an ACTH stimulation test (synacthen test) whereby serum cortisol remains low despite the administration of synthetic ACTH. In an emergency, treatment should not be delayed by diagnostic testing.

Answer 19

C. Hypercalcaemia 90% of hypercalcaemia is caused by primary hyperparathyroidism or cancer. Cancer is the likely cause in this woman. Malignancy can cause hypercalcaemia either by direct bony involvement leading to osteolytic lesions or paraneoplastic syndromes involving PTHrp release. The tumour is typically very advanced if hypercalcaemia is a feature. Less common causes include vitamin D overdose, hyperthyroidism, immobilisation, Paget’s and milk-alkali syndrome. The classic bone disease in hyperparathyroidism is osteitis fibrosa cystica which causes pain. Symptoms of high calcium include confusion, constipation, polyuria, polydipsia, depression, kidney stones and lethargy. This can be remembered by ‘stones, bones, abdominal groans and psychiatric moans’. The serum PTH level is elevated in primary hyperparathyroidism whereas it may be very low in malignancy due to negative feedback.

Answer 20

G. Metabolic acidosis 90% of hypercalcaemia is caused by primary hyperparathyroidism or cancer. Cancer is the likely cause in this woman. Malignancy can cause hypercalcaemia either by direct bony involvement leading to osteolytic lesions or paraneoplastic syndromes involving PTHrp release. The tumour is typically very advanced if hypercalcaemia is a feature. Less common causes include vitamin D overdose, hyperthyroidism, immobilisation, Paget’s and milk-alkali syndrome. The classic bone disease in hyperparathyroidism is osteitis fibrosa cystica which causes pain. Symptoms of high calcium include confusion, constipation, polyuria, polydipsia, depression, kidney stones and lethargy. This can be remembered by ‘stones, bones, abdominal groans and psychiatric moans’. The serum PTH level is elevated in primary hyperparathyroidism whereas it may be very low in malignancy due to negative feedback.

Answer 21

D. Hypothyroidism Amiodarone can cause both hyperthyroidism (Jod-Basedow effect) and hypothyroidism (Wolff-Chaikoff effect). Amiodarone is 37.3% iodine by weight and is structurally similar to thyroxine.

Answer 22

F. Addison's disease The presence of other autoimmune diseases such as T1DM, RA, vitiligo are all risk factors to the development of Addison’s. There is also a FH of pernicious anaemia. Postural hypotension and hyperpigmentation in the palmar creases all point towards Addison’s disease. Hyperpigmentation due to excess ACTH production can be mucosal or cutaneous and is more pronounced in the palms, knuckles and around scars. MSH is a byproduct of the production of ACTH from the cleavage of POMC. If serum electrolytes were done, sodium would be low and potassium elevated.

Answer 23

L. Hypocalcaemia Hypocalcaemia can develop as a complication of thyroid surgery due to the loss of parathyroid glands which produce PTH. Trousseau’s sign is carpal spasm when a blood pressure cuff is used for several minutes. Carpopedal spasm that occurs with hypocalcaemia is a painful spasm and could be the presenting sign. Chvostek’s sign is twitching of the perioral muscles in response to tapping over the facial nerve at the ear. If urgent replacement is necessary, calcium gluconate can be given IV. It is preferred over calcium chloride as it causes less tissue necrosis if it leaks out. It is worth noting that digoxin may be ineffective until serum calcium is restored to normal.

Answer 24

G. Insulin Insulin therapy is recommended in T2DM not controlled on 2 oral agents and is usually started with basal insulin at night time (such as glargine and detemir, your long acting insulins). In any case, this patient is getting worse despite maximum oral medication, which may have included even a third non-insulin agent such as a DPP-4 inhibitor. Many patients will also need rapid acting insulin (such as lispro and aspart) before each meal. There are also other options for basal-bolus regimes such as intermediate acting insulin (NPH) and short-acting insulins. Metformin can be continued but sulphonylurea should be tapered as insulin doses increase. Flexible dosing is the preferred regime but pre-mixed insulin is an option. Insulin can also be used at the time for diagnosis in cases of marked hyperglycaemia. Self-monitored blood glucose testing will be necessary too and side effects include weight gain and hypoglycaemia. This question requires you to have some knowledge of the stratified glycaemic management for DM. The general goal is HbA1c <7% (from 2011, these values are expressed in mmol/mol, so this would be <53 mmol/mol). HbA1c is glycated Hb and provides an estimation of glycaemic control over the life span of red blood cells (around 60 days). BP control with an ACE inhibitor, lipid control with a statin, lifestyle changes and stopping smoking are all crucial in the treatment of T2DM and to try to reduce the mortality associated with macrovascular complications. First line intervention in newly diagnosed diabetes is diet and lifestyle advice and changes. If this fails to keep blood sugars in check then the patient will need to be started on an oral hypoglycaemic, and the first line is metformin. Metformin is a biguanide and suppresses hepatic glucose production.

Answer 25

J. Metformin It has been a few months already, and we can assume that diet and lifestyle changes have not had an effect. This patient will need to be started on metformin.

Answer 26

H. Pioglitazone (Thiazolidinedione) This man is on a sulphonylurea which is an insulin secretagogue. It is an old drug with a long track record and is being used in this case as the patient does not tolerate metformin, which would otherwise have been first line. Sulphonylureas can cause hypoglycaemia. They act at the pancreas by blocking ATP sensitive potassium channels which leads to beta cell depolarisation and calcium influx, which causes increased insulin release. They also act on peripheral insulin receptors and have hepatic effects. This man is on maximum therapy of gliclazide and is refusing any injections so this rules out insulin therapy so we must consider non-insulin agents as add-ons. These include alpha glucosidase inhibitors (but our patient also cannot tolerate acarbose), DPP-4 inhibitors (‘gliptins’), GLP1 agonists (exenatide) or TZDs. The latter is the only available option on the list.

Answer 27

E. Glucagon This patient is suffering from hypoglycaemia present when glucose drops <3mmol/L. Symptoms include sweating, weakness, drowsiness, palpitations and anxiety. This patient has collapsed and is presumably not able to take oral glucose or sugar (which in any case is not an option on the list). Patients with either long standing DM or on beta blockers may become unaware of hypoglycaemia and become profoundly hypoglycaemic before symptoms develop. In DM, hypoglycaemia is usually secondary to insulin or oral hypoglycaemics. IM glucagon can be given instead in this case.

Answer 28

F. Diet and exercise Diabetes occuring during pregnancy are mostly adequately treated on diet alone. Just reduce carbohydrate intake and monitor glucose levels. If uncontrolled or markedly severe, insulin therapy can be used. It is however worth noting that after delivery of the placenta, there is a big reduction in insulin requirement which may be factored in. Initial postpartum insulin needs are lower than pre-pregnancy. Treatment aims to lower glucose levels to avoid fetal macrosomia and complications. Subsequent long term risk for T2DM is high.

Answer 29

D. Diet and exercise This patient is not symptomatic and so needs further tests before a diagnosis can be made. However, regardless, first line intervention is diet and lifestyle changes in newly diagnosed DM.

Answer 30

A. Insulin This is DKA (HHS will have a higher blood glucose and tends not to present in a coma). If IV saline is an option in EMQs, it is a better option than insulin, which is also needed, but the main thing that needs to be corrected is the severe intravascular volume depletion and to restore tissue perfusion. When glucose reaches 11.1mmol, fluid should be changed to 5% dextrose to prevent hypoglycaemia. Insulin should be held until potassium is at least 3.3 mmol/L (remember insulin moves potassium into cells) and a continuous infusion is recommended (with new DKA treatment guidelines, the ‘sliding scale’ is now a thing of the past). If interested, look up the latest DKA treatment guidelines for more information.

Answer 31

F. Grave's disease This patient is obviously hyperthyroid with the weight loss despite an increased appetite, tremor, palpitations, tachycardia and diarrhoea. This patient has Graves’ disease, which is the most common cause of hyperthyroidism in countries with an adequate iodine intake. Peripheral manifestations, such as in this case exopthalmos (and pretibial myxoedema, hyperthyroid acropachy), do not occur with other causes of hyperthyroidism. Where there is pretibial myxoedema, there is almost always opthalmopathy too. Treatment aims to normalise thyroid function and is achieved by radioactive iodine, antithyroid medications or with surgery. They are all effective and relatively safe options. Symptomatic therapy is given with beta blockers such as propranolol.

Answer 32

D. Toxic multinodular goitre This patient is again obviously hyperthyroid with the symptoms she is presenting with but does not have the peripheral stigmata of Graves’. This is a case of toxic multinodular goitre characterised by the irregular goitre, rather than the smooth goitre of Graves’. There may be substernal extension. It is most common in older patients and is associated with head and neck irradiation and iodine deficiency. TSH is the initial screening test and if supressed, T4/T3 levels are measured. A thyroid scan and uptake will show multiple hot and cold areas consistent with areas of autonomy and areas of suppression. Definitive treatment is commonly given in the form of radioactive iodine.

Answer 33

L. Anxiety state TSH is normal so there is no thyroid disorder here despite the patient’s symptoms and the patient also appears nervous. Anxiety would explain the patient’s symptoms here and weight loss may be incorporated as part of an anxiety disorder.

Answer 34

B. Viral thyroiditis This woman has de Quervain’s (viral) thyroiditis (which can also be called subacute granulomatous thyroiditis) which is inflammation of the thyroid characterised by a triphasic course where there is transient thyrotoxicosis followed by a hypothyroid phase before a return to euthyroidism. The thyrotoxic phase (symptoms of hyperthyroidism may are present here) is characterised by pain and tenderness of the thyroid, which tends to be larger, firm and tender to touch. This woman also has a fever and neck pain. This is a self-limiting condition and no specific treatment is needed though NSAIDs and beta blockers can be used for symptomatic relief. Roughly 30-40% describe a prior viral infection.

Answer 35

E. Thyroglossal cyst This midline neck swelling moves up on tongue protrusion (and swallowing) making this a thyroglossal cyst. It is a cyst that forms from a remnant thyroglossal duct and can hence develop anywhere along the length of this embryological duct, which is a midline structure between the foramen caecum at the back of the tongue and the thyroid gland.

Answer 36

K. Papillary thyroid carcinoma TSH is normal and the examination findings point to a carcinoma, which most commonly presents like this – an asymptomatic nodule. If TSH were suppressed then this would suggest hyperthyroidism, or a hot nodule, in which case the incidence of cancer is very low. If TSH, like this case, is normal, then a FNA is indicated and cytology may then help to tell cancer type. Histology cannot distinguish follicular adenomas and carcinomas but is used for diagnosis of follicular carcinoma (when combined with other features) instead of cytology. There are 5 types of thyroid cancer: papillary (most common), follicular, medullary (about a quarter are familial e.g. MEN), anaplastic (worst prognosis) and lymphoma. Orphan Annie eyes and psammoma bodies are seen in papillary cancer. Average 10 year survival is >90%. This is a hard question.

Answer 37

A. Myxoedema This patient has hypothyroidism (myxoedma). Worldwide, the most common cause is iodine deficiency. Other causes include Hashimoto’s or secondary and tertiary hypothyroidism. It can also result from viral de Quervain’s thyroiditis or postpartum thyroiditis. Symptoms include those mentioned (weight gain, fatigue, loss of appetite and bradycardia) as well as depression, sluggish reflexes, constipation, cold intolerance, menstrual problems in females, dry skin and muscle cramps. Diagnosis is based on measurement of TSH and thyroid hormones. Treatment is by replacement of T4 with or without T3 in combination. If the patient has normal T3 and T4 but mildly elevated TSH, this is described as subclinical hypothyroidism.

Answer 38

E. IDA This woman has IDA which is a microcytic hypochromic anaemia characterised by low serum iron, high TIBC and low transferrin saturation and serum ferritin. There is spooning of the nails (koilonychia) which is a sign. Nail chances begin with thinning and then flattening before spooning occurs. Pallor is also a sign of anaemia. Patients can often complain of faitgue, cravings, hair loss and there may also be glossitis and angular stomatitis. Initial treatment is with oral iron. The cause here is most likely dietary where intake does not cover losses. This can be attributed to the patient’s vegetarian diet. It is worth noting that iron absorption is enhanced by vitamin C whereas it is inhibited by tea, wine and calcium. However, it is worth noting that other causes of IDA include loss bleeding, which is the principal cause, and further investigations should be done if a cause is not obviously present. IDA is not an end diagnosis and has many causes. Worldwide, the most common cause is hookworm infection, and in the UK, menstrual losses in women. Causes of IDA can be broadly divided into 4 categories: decreased intake, increased loss, increased requirements (such as in pregnancy), and unknown.

Answer 39

J. Depression Chronic fatigue syndrome can only be diagnosed if there is no other explanation for the patient’s impairing fatigue, which is persistent and lasts >6 months. This case is depression, not CFS (the patient doesn’t even complain of feeling tired in this case). This woman has many risk factors: recent childbirth, stress, female sex. While she doesn’t directly complain of a depressed mood or anhedonia, there is sleep disturbance, irritability, poor conentration and memory, which all point to a diagnosis of depression. About 1 in 5 women postnatally have a major episode of depression during the first 3 months. Most respond well to psychotherapy, antidepressants, or both. Suicidal ideation should be assessed during consultations, and hospitalisation considered if this is a real risk. Depression in general is common in primary care, affecting some 5-10% of all patients.

Answer 40

B. Sleep apnoea syndrome This is obstructive sleep apnoea and is associated with obesity. Symptoms this patient has such as loud snoring are typical. There may also be gasping during sleep, unrefreshing sleep and excessive sleepiness during the day, which explains why this man is falling asleep at work. Diagnosis is confirmed with polysomnography (also known as a sleep study). Non-invasive interventions include positive airway pressure can be used and there is the option of surgical treatment if indicated. There are many complications of untreated OSA such as MI, stroke and premature death.

Answer 41

G. Pernicious anaemia PA presents with symptoms of anaemia and B12 deficiency. Hence, there is the fatigue and glossitis of anaemia with the neuropathy of B12 deficiency. The Schilling test is now rarely used but does crop up in exams (In this test, IM vitamin B12 is given to saturate stores. Then oral radiolabelled B12 is given and urine is collected over 24 hours. The amount excreted is lower in B12 malabsorption. If this is not corrected by IF the problem is with the ileum and not inadequate IF). Serum B12 levels are useful and APC (anti-parietal cell antibody) can determine whether pernicious anaemia is the cause (but note APC can also be elevated in atrophic gastritis). IF antibody is highly specific for PA but lacks sensitivity compared to APC. Treatment involves supplementation.

Answer 42

F. Hypothyroidism This patient has hypothyroidism. Worldwide, the most common cause is iodine deficiency. Other causes include Hashimoto’s or secondary and tertiary hypothyroidism. It can also result from viral de Quervain’s thyroiditis or postpartum thyroiditis. Symptoms include those mentionedas well as weight gain, menstrual problems in females, dry skin and muscle cramps. Diagnosis is based on measurement of TSH and thyroid hormones. Treatment is by replacement of T4 with or without T3 in combination. If the patient has normal T3 and T4 but mildly elevated TSH, this is described as subclinical hypothyroidism.

Answer 43

J. Infectious mononucleosis Infectious mononucleosis is caused by EBV and is characterised by fever, pharyngitis and lymphadenopathy. Enlargement of the spleen begins in the first week and lasts 3-4 weeks, occuring in half of all cases. Risk factors for EBV transmission include kissing and sex. A FBC will show an atypical lymphocytosis. Confirmation of IM involves detection of the existence of heterophile antibodies using the Paul Bunnell monospot. A more accurate test is a serological test detecting EBV specific antibodies. Treatment is usually symptomatic but IM carries rare but potentially life threatening complications.

Answer 44

H. Chronic fatigue syndrome This is > 6 months of significant impairing fatigue which is otherwise not explained – the definition of CFS. The aetiology is currently unknown and women are 2-3 times more likely to have CFS. Graduated low-impact exercise and CBT is recommended for all patients. Medication is not effective in CFS. This syndrome is associated with functional impairment which is progressive, depression and OSA.

Answer 45

B. Sleep apnoea This is obstructive sleep apnoea and is associated with obesity which this man has. Smoking is a weak risk factor but strong risk factors, aside from obesity, include male sex, fat neck, fat tongue, chronic snoring and hypothyroidism. Symptoms such as loud snoring are typical. There may also be gasping during sleep, unrefreshing sleep and excessive sleepiness during the day, which explains why this man is falling asleep at the wheel. Diagnosis is confirmed with polysomnography (also known as a sleep study). Non-invasive interventions include positive airway pressure can be used and there is the option of surgical treatment if indicated. There are many untreated complications of OSA such as MI, stroke and premature death.

Answer 46

C. Hypothyroidism Hypothyroidism can cause Carpal Tunnel Syndrome. Other clues in this question include coarse hair, dry/coarse skin, weight gain, cold sensitivity, constipation, slow relaxing reflexes and bradycardia. There may additionally be menstrual irregularities, myalgia, depression and a goitre. Worldwide, the most common cause is iodine deficiency. Diagnosis is based on measurement of TSH and thyroid hormones. Treatment is by replacement of T4 with or without T3 in combination.

Answer 47

F. Diabetes mellitus Pruritus vulvae (an itchy vulva, basically) and recurrent boils suggest this patient is having infections. There is also weight loss and tiredness. This points to T2DM, which can present with yeast, skin and urinary tract infections on top of unintentional weight loss and fatigue.

Answer 48

F. Diabetes mellitus T1DM presents with polyuria (nocturia is typical), polydipsia (again, at night is typical), weight loss and is indicated by the patient’s young age. The hyperventilation indicates ketoacidosis with respiratory compensation and this patient is currently in DKA. Insulin is needed alongside dietary changes and exercise. Insulin regimes aim to mimic physiological insulin release with a basal-bolus dosing. There is an option between using a pump and having multiple daily injections. It is worth noting that there is a high incidence of diabulimia among young people with T1DM who give themselves less insulin than they need in order to lose weight (they lose weight, ‘look good’ but trash their bodies).

Answer 49

I. Thyrotoxicosis This woman has hyperthyroidism (thyrotoxicosis). Symptoms include those mentioned and heat intolerance, sweating and tachycardia. In countries where sufficient iodine intake is not an issue, Graves’ disease is the most common cause of hyperthyroidism which presents with a diffuse goitre. Treatment aims to normalise thyroid function and is achieved by radioactive iodine, antithyroid medications or with surgery. Symptomatic therapy is given with beta blockers such as propranolol.

Answer 50

J. Myxodema This is hypothyroidism (myxoedema). Coarse hair, dry/coarse skin, weight gain, cold sensitivity, constipation, slow relaxing flexes, bradycardia, menstrual irregularities, myalgia, depression and a goitre may all be found. Diagnosis is based on measurement of TSH and thyroid hormones. Treatment is by replacement of T4 with or without T3 in combination.

Answer 51

E. Primary hyperparathyroidism There is autonomous PTH production in primary HPT which causes deranged calcium metabolism. Biochemistry will show elevated serum calcium and inappropriate elevation of PTH. Depression, cognitive changes, change in sleep (possibly due to change in circadian rhythm) and myalgia are all common complaints. This patient’s bone pain is a common complaint which may occur with osteoporosis. Osteoporosis occurs due to excess PTH causing bone resorption (osteoclasts are stimulated). This patient also has a kidney stone in the left loin due to hypercalciuria. Other symptoms of hypercalcaemia are present including nocturia and the patient also seems to have pancreatitis. I agree, a patient in real life is unlikely to be unlucky enough to present with such a host of symptoms. The only definitive cure is a parathyroidectomy although complications of this procedure include hypocalcaemia, injury to the recurrent laryngeal nerve, bleeding and a pneumothorax.

Answer 52

G. Cushing's syndrome This asthmatic is likely on steroids (inhaled, or oral). This can lead to iatrogenic Cushing’s syndrome. A low dose dexamethasone suppresion test can be done, or a 24 hour urinary free cortisol collection to diagnose Cushing’s syndrome.

Answer 53

K. Addison's disease Hyperpigmentation in the palmar creases points towards Addison’s disease. Hyperpigmentation due to excess ACTH production can be mucosal or cutaneous and is more pronounced in the palms, knuckles and around scars. MSH is a byproduct of the production of ACTH from the cleavage of POMC. Sodium is low and potassium elevated. Patients like this one will also present with weight loss. There may also be abdominal pain as a GI complaint. Vitiligo is an autoimmune condition and patients with autoimmune diseases are at increased risk of developing Addison’s. Diagnosis of Addison’s can be made on an ACTH stimulation test (synacthen test) whereby serum cortisol remains low despite the administration of synthetic ACTH. In an emergency, treatment should not be delayed by diagnostic testing.

Answer 54

C. Phaeochromocytoma Phaeochromocytomas presents with paroxysmal episodes of palpitations, anxiety, excessive sweating, pallor and hypertension. The patient may complain of headaches. It can be inherited in MEN2, von Hippel-Lindau syndrome and NF1. Diagnosis is based on raised urinary and serum catecholamines, metanephrines and normetanephrines. 24 hour urinary VMA will be elevated. CT is used to localise the tumour. Treatment includes medical with the use of phenoxybenzamine, phentolamine and surgical options. Surgical excision is carried out under alpha and beta blockade to protect against the release of catecholamines into circulation when the tumour is being manipulated. The 10% rule is often quoted: 10% are bilateral, 10% malignant, 10% extraadrenal and 10% hereditary.

Answer 55

E. Thyroxine This is hypothyroidism and this lady will need replacement T4 (levothyroxine), with or without T3. Treatment is lifelong and the main complication is over-replacement which can cause AF and osteoporosis. The dose must be increased in pregnancy, where requirements of T3 and T4 increase. A lower dose of levothyroxine is recommended if the patient has coronary artery disease as it can exacerbate angina.

Answer 56

G. Surgery This is a pituitary adenoma secreting ACTH (i.e. Cushing’s disease) which will have to be definitively excised by transsphenoidal pituitary adenomectomy as the first line intervention. Adrenal aetiology in Cushing’s syndrome would cause a suppressed ACTH. Think about the HPA axis and draw it out if you find it difficult to get your head around this.

Answer 57

A. Hydrocortisone This patient has Addison’s disease. Hyperpigmentation due to excess ACTH production can be mucosal or cutaneous and is more pronounced in the palms, knuckles and around scars. There is also fatigue, weight loss and postural hypotension. Treatment is with oral GC and MC replacement for life. Hydrocortisone is a glucocorticoid which can be given, and fludrocortisone is a mineralocorticoid which can be given.

Answer 58

F. Carbimazole This is Graves’ disease and this patient is describing Graves’ ophthalmopathy with diplopia, exopthalmos and periorbital puffiness. The menstrual problems this woman reports can also be seen in hyperthyroidism. Graves’ can be treated with antithyroid drugs which include carbimazole. Carbimazole (similar drugs include PTU and methimazole, which is what carbimazole is converted to) gradually decreases T3 and T4 output by inhibiting thyroperoxidase which iodinates tyrosyl residues in thyroglobulin to give T3 and T4 precursors. A rare adverse effect of carbimazole is agranulocytosis. Rashes and joint pain can also occur. The response can take several weeks due to thyroid stores and the long half life of T4.

Answer 59

B. Gliclazide This patient has DM and the only oral hypoglycaemic on the list is gliclazide. It is a sulphonylurea, and other drugs in this class include tolbutamide, glibenclamide and glipizide. It acts to increase insulin release from beta cells by acting on the sulphonylurea receptor causing potassium channels to close. This causes depolarisation and calcium entry via VGCCs which stimulates insulin secretion by exocytosis. Side effects include hypoglycaemia and weight gain.

Answer 60

A. Acromegaly Acromegaly is caused by excess growth hormone and is most often due to a pituitary adenoma. The diagnosis is often made late as the symptoms are insidious in onset. This patient has an increase in shoe size. There may also be an enlarged nose, prognathism, soft tissue changes and organomegaly, all as a result of excess GH/IGF-1. The visual impairment is due to the pituitary adenoma putting pressure on the optic chiasm. Tumour mass effect may also cause headaches, there may also be hypopituitarism from stalk compression and CN palsies. IGT and DM are associated and this may account for the polydipsia (and possible polyuria). There may also be altered sexual function, Carpal Tunnel Syndrome and joint dysfunction. Treatment is either sugical with transsphenoidal surgery, or medical (if the tumour cannot be resected/completely resected) with a somatostatin analogue like octreotide and an adjunctive dopamine agonist like cabergoline. If the patient does not respond to SSAs then pegvisomant which is a GH receptor antagonist can be used, although it is very costly. Gigantism occurs as a result of excess GH during childhood.

Answer 61

F. Graves' disease The goitre combined with peripheral signs points to Graves’ disease as Graves’ is the only cause of hyperthyroidism which presents peripheral signs like pretibial myxoedema and exopthalmos. The irritability, palpitations, weight loss and sweating all indicate hyperthyroidism. The cause is indicated from the peripheral stigmata. The possible FH of autoimmune thyroid disease is a strong risk factor.

Answer 62

B. Myxoedema This patient’s symptoms are consistent with hypothyroidism. Worldwide, the most common cause is iodine deficiency. Other causes include Hashimoto’s or secondary and tertiary hypothyroidism. It can also result from viral de Quervain’s thyroiditis or postpartum thyroiditis. Diagnosis is based on measurement of TSH and thyroid hormones. Treatment is by replacement of T4 with or without T3 in combination. If the patient has normal T3 and T4 but mildly elevated TSH, this is described as subclinical hypothyroidism.

Answer 63

H. Cushing's syndrome This patient has presented with the classic signs and symptoms of Cushing’s syndrome. There are signs of hypercortisolism: obesity (central), hypertension, DM (due to glucose intolerance), osteoporosis, proximal myopathy, easy bruising due to thin skin and SC tissue and a moon face. Other signs and symptoms include acne, low libido, buffalo hump (dorsocervical fat pads), striae, facial plethora and menstrual irregularities. A diagnostic test is needed such as 48 hour 2mg dexamethasone suppression testing. ACTH should be measured and if suppressed then further testing should focus on the adrenals. If not suppressed then pituitary or ectopic disease should be suspected. In most cases, surgical resection is the treatment of choice, whether a pituitary or adrenal adenoma is to blame.

Answer 64

J. Diabetes insipidus This is nephrogenic diabetes insipidus where there is polydipsia, polyuria, and hypotonic urine in large quantities. Central DI is due to defective synthesis or release of AVP and will hence respond to DDAVP (desmopressin). Nephrogenic DI, on the other hand, occurs due to renal insensitivity to AVP. Hence, it will not respond to DDAVP and trearment is with adequate fluids, salt restriction and thaizide diuretics (paradoxically). This boy could have an inherited form of nephrogenic DI with a mutation in the AVP receptor pathway in the collecting duct. There may also be AQP2 receptor mutations. Other risks for nephrogenic DI include lithium use, CKD and chronic hypercalcaemia or hypokalaemia.

Answer 65

E. Amiodarone Any patient with a history of miscarriage should be investigated for thyroid dysfunction especially hypothyroidism. In this lady's case she has been taking amiodarone as an anti-arrhythmic long term, Amiodarone is one of several drugs that can cause hyper/hypothyroidism.

Answer 66

B. External neck irradiation The man's history points to oral cancer, for which he would have received a wide local excision most likely. This would have been followed up with radiotherapy to the local nodes and tissues of the neck. In this gentleman the radiation has caused his thyroid to become underactive hence the lethargy and tiredness. The tingling in his hands at night is a classic presentation of Carpal tunnel syndrome (median nerve compression at the flexor retinaculum) which has an increased incidence in patients with hypothyroidism.

Answer 67

F. Hashimoto's thyroiditis This patient has signs of hypothyroidism: depressed mood and impaired taste. Also she has hypothyroid myopathy, evidenced both symptomatically and biochemically by the elevated creatine kinase. Further to this it is worth noting that hypothyroidism has other effects that can be seen on bloodwork. Amongst these are anaemia and hypercholesterolaemia. It is the thyroid that moves on swallowing and on examination hers is rubbery and firm, this is typical of hashimoto's thyroiditis which is one of the leading causes of hypothyroidism in the UK. De Quervain's is not an option owing to lack of preceding viral infection and no tenderness over the neck. Hashimoto's thyroiditis is an autoimmune thyroiditis with associations with HLA -DR5 (and some conditions such as Turner's syndrome, T1DM and pernicious anemia) that shows T - lymphocyte infiltration of the gland and reactive antibodies against the TSH receptor and less commonly Thyroglobulin. It is most prevalent in middle aged women and is a prominent cause of goitre, due to the infiltration of the gland and elevated TSH levels (since T4 production is decreased). Note that at presentation most patients are euthyroid, although around half end up hypo due to destruction of the thyroid. It is possible to be toxic with hasimotos. Hashitoxicosis however is rare and can be transient. Treatment is generally thyroxine T4 given at doses sufficient to suppress endogenous T4 production and minimise TSH, this is done to lessen the risk of a goitre forming and subsequently growing.

Answer 68

D. Myxoedema coma This patient is at the severe end of the hypothyroid spectrum. She has depressed level of consciousness (this can descend into frank coma) and is hypoventilating, other features that can present in this serious complication are bradycardia, and hyponatraemia. Further to this a massive proportion are hypothermic (core temp < 35 degrees celsius) although there is absence of shivering. The mortality is high..around 50%. This is a diagnosis not to be missed so anyone with depressed consciousness should have thyroid function tests performed, especially the elderly. NB: Always look for the cause, often there is a precipitant..be it a cold home, narcotics or infection. Mx : she would need supportive measure to correct her respiratory status and iv fluids, body temperature must also be maintained. Replacement of thyroid hormone is by administration of bolus T3 ideally (the drug is liothyronine). This is followed up by oral T3, if this is contra-indiciated thyroxine can also be used. Since she has also received glucocorticoid replacement for low BMs and hyponatraemia it may be reasonable to assume her hypothyroidism is pituitary in origin.

Answer 69

H. Thyroxine abuse This patient is not worried by her weight loss as it is self induced, she has no features that confirm grave's disease though she is thyrotoxic. The mother's condition is not stated but you can deduce that the girl has access to thyroxine which she is abusing for it's metabolic properties.

Answer 70

B. Riedel's thyroiditis Riedel's is typically described as Iron hard or 'woody'. It is of an autoimmune origin and 25-50% of those affected are hypothyroid. The presenation is of a painless lump in the neck that can also cause local compressive symptoms. ie. Tracheal/oesophageal compression..stridor etc. Since the lump is hard and craggy it can be easily mistaken for carcinoma, however there is no lymphadenopathy in this patient or general cancer symptoms. Riedel's can be associated with sclerosing cholangitis and peculiarly responds to Tamoxifen, there can also be use for steroids. Patient 2: anxious and with opthalmoplegia, immediately you are thinking thyrotoxic and more specifically Grave's as opthalmopathy is almost always associated with this particular pathology. The anti TSH receptor antibodies are a finding in Graves and they are likely responsible for the opthalmopathy and pre-tibial myxoedema sometimes seen. Thyroid stimulating immunoglobulin (TSI) is also implicated. A Radio-idoine uptake scan of the thyroid would show a 'hot' gland with diffuse symmetrical enlargement.

Answer 71

A. Grave's disease Anxious and with opthalmoplegia, immediately you are thinking thyrotoxic and more specifically Grave's, as opthalmopathy is almost always associated with this particular pathology. The anti TSH receptor antibodies are a finding in Graves and they are likely responsible for the opthalmopathy and pre-tibial myxoedema sometimes seen. Thyroid stimulating immunoglobulin (TSI) is also implicated. A Radio-iodine uptake scan of the thyroid would show a 'hot' gland with diffuse symmetrical enlargement.

Answer 72

G. Early De Quervain's thyroiditis Preceding viral infection already points towards De Quervain's. The fine needle aspirate shows giant cells which are collections of macrophages which form in response to infection or foreign bodies. In this case the gentleman is anxious suggesting he is thyrotoxic, this is reinforced by the low uptake on radio iodine scanning. In the early stages of De Quervain's thyroiditis viral infiltration of the gland leads to destruction and release of preformed T4/T3, this leads to thyrototoxicosis. There is low uptake as the gland is responding to feedback, the raised serum T4 is a consequence of gland destruction not increased synthesis. As a result of this there is a second phase where the endogenous T4/T3 stores are depleted and the patient becomes hypothyroid. Early management is symptomatic and generally supportive e.g. beta blockade.

Answer 73

D. MEN 2B This fixed lump is accompanied by lymphadenopathy, warning bells go off that this may be malignant. There are local invasion signs also as confirmed by pemberton's sign. Pemberton's sign - I put this into a thyroid exam, It can equally be justified in a respiratory examination. Basically you ask the patient to lift their arms straight above their head as high as possible and then listen for inspiratory stridor, look for facial flushing or distension of veins acorss the neck. You can ask the patient to tell you if they fell light headed when performing this test. It basically looks to see if there is evidence of SVC (superior venae cava) syndrome. If there is a large goitre or apical lung tumour for example impinging on the SVC, lifting the arms will lead to compression and cause congestion of blood in the head. This can be seen as a plethoric face, a cyanosed face, the patient may experience nausea and headache etc. Positive Pemberton's sign signifies thoracic inlet obstruction causes of which include: - Retrosternal goitre - Lung carcinomas - Aortic Aneurysms Thoracic inlet scan shows that a goitre is compressing structures such as the Superior vena cava. This seems to be maligant..Medullary thyroid carcinoma. however the rest of the patient must be taken into account..she has a marfanoid appearance and suggestion of other features of the syndrome. the lens work would be to correct dislocation, and the aortic valve work no doubt was to correct aortic root dilatation and valve incompetency seen in Marfan's. The nodules are neurofibromatoses typical of MEN 2b.

Answer 74

C. Surgical decompression There is significant retroorbital oedema and fibrosis around the optic nerve, decompressive surgery should help relieve this and prevent further atrophy.

Answer 75

B. Stop treatment The sore throat should be treated with a high index of suspicion as it might warn of neutropenic agranulocytosis, a serious side effect of Carbimazole. Bloods should be taken to determine if this has occurred and if so the drug should be stopped.

Answer 76

D. Radioiodine A malignant thyroid has been removed (weight loss, dysphagia) and the thyroglobulin is mentioned as it is useful as a marker of neoplastic activity in patients with these malignancies (much like PSA in prostate Ca), carcinoembryonic antigen : CEA may also be used in the same way. Recurrence or suggestion of should be treated promptly with followup irradiation.

Answer 77

A. Propranolol De Quervain's is caused by infection. It is early stage hence he is thyrotoxic. Management is mainly supportive: analgesia and beta blockade for the palpitations and anxiety.

Answer 78

G. Hashimoto's thyroiditis

Answer 79

E. Multinodular goitre

Answer 80

C. Medullary cell carcinoma

Answer 81

E. Addison's disease This patient has symptoms of adrenal insufficiency. Her Systolic BP falls by more than 20mmHg on standing which means she has postural hypotension. Hyperpigmentation of the gingiva and buccal mucosa suggests high ACTH output which in this patient would be due to primary adrenal insufficiency: Addison's disease. The condition is probably of autoimmune origin in this girl and a positive finding may be 21 hydroxylase auto-antibodies.

Answer 82

G. Cushing's disease This man has weight gain and impaired wound healing, already you should be thinking Cushing's or diabetes. The blood test used here is being performed to differentiate between Cushing's disease and Cushing's syndrome. 10ug ovine or human CRH is administered to a patient who has fasted at least 4 hrs. pre test and serial post test ACTH and cortisol measurements are taken. In pituitary driven Cushing's disease the cortisol can be manipulated, that is to say exogenous CRH will cause a recordable increase in serum cortisol by the 2hr mark (and ACTH). However if the source of the excess cortisol is an ectopic ACTH producing tumour for example, this is not subject to any feedback mechanisms and so no change in serum cortisol will be seen on giving CRH.

Answer 83

B. Addisonian crisis Though this patient does have TB, Addisonian crisis is the acute condition that has caused him to collapse. He is shown to be hyponataraemic and hyperkalaemic. This picture fits adrenal failure well, the raised potassium is a result of mineralocorticoid deficiency leading to decreased K+ excretion. The CXR is hinting at upper lobe fibrosis as seen in patients who have had Tuberculosis, and further the abdo film shows calcification of the adrenals bilaterally which is the radiographic appearance of TB infiltration of the adrenal galnds. This man has Addison's caused by TB. Furthermore he is found collapsed with low blood glucose. He has signs of shock...Tachycardia and oliguria so he is in fact in Addisonian crisis which should be treated promptly with gluocorticoid replacement and dextrose, this man has evidence of mineralocorticoid deficiency also so fludrocortisone should be coadministered.

Answer 84

F. Pituitary apoplexy This patient has bitemporal hemianopia which has been worsening, and this should spark thoughts of a growing pituitary adenoma. But then she presents with an acute change. With a tumour a sudden change is usually vascular.. in this case the patient is suffering pituitary apoplexy whereby her enlarging pituitary tumour has undergone haemorrhage. This has basically wiped out pituitary function in a moment which explains her cardiovascular collapse and immensely painful headache. In fact apoplexy can present just like a sub-arachnoid haemorrhage in patients with known adenomas: Splitting headache - INCREDIBLY BAD - Xanthochromia (from extravasation of blood through the diaphrgam sellae into the sub aracahnoid space) - Vomiting - Loss of consciousness.

Answer 85

C. Sheehan's syndrome Pre-eclampsia (proteinuria + HTN in pregnancy) is a major risk for post partum haemorrhage: in this lady's case she had to receive blood products and Syntocin (a synthetic oxytocin drug used to combat uterine atony and help stop haemorrhaging). Blood loss doesn't normally cause changes in pituitary function however in pregnancy the pituitary is particularly vulnerable. Hyperplasia and Hypertrophy of the lactotrophe cells in pregnancy ( due to increased LH/FSH) leads to an increase in size of the adenphypophysis, however there is no such increase in the vascular supply to the anterior pituitary. When blood is lost in PPH the ant. pituitary thus infarcts and necroses. This is Sheehan's syndrome...it can present insidiously or in a major way. It may be picked up if the mother fails to breast feed, but amennorhoea following birth and loss of pubic and axillary hair is also a common presentation. Only occasionally is full blown Sheehan's encountered where the Mother becomes hypothyroid and can develop Diabetes mellitus due to wildly deranged Ant. Pituitary function. DX: low oestradiol and pituitary hormone levels. NB: Diabetes Insipidus is a rare complication since the posterior pituitary has a rich arterial blood supply that is rarely compromised in PPH.

Answer 86

H. Nelson's syndrome Worsening loss of peripheral vision infers pituitary adenoma. Hyperpigmented scars suggsts a state of increased ACTH production however this patient doesn't seem to be in adrenal failure, she is overweight. She has had abdominal surgery and was on meyrapone ( a drug which inhibits cortisol production) and Aminoglutethamide (an adrenolytic). Basically this woman is overweight and has striae because she was cushingoid: the cause was adrenal hyperplasia. She was on medication to control this but the decision was made to operate and a bilateral adrenalectomy was performed. The consequences f this is that she has very minimal cortisol production and her pituitary is striving to fuel this by pumping out lots of ACTH (hence the dark scars). The visual field problems are due to an undiagnosed pituitary adenoma that was non functional but since her surgery the pituitary tumour has grown substantially since there is no negative feedback coming from circulating cortisol. This is basically Nelson's syndrome. NB: these days bilateral adrenalectomy is very rare and the pituitary is sometimes irradiated to prevent Nelson's from occurring. This patient needs glucocorticoid replacement and transsphenoidal surgery.

Answer 87

A. Adrenal adenoma This lady is cushingoid: that's a given, but is the pathology Cushing's disease or syndrome? The dexamethasone suppression test tells us this. Administration of low dose dexamethasone (0.5 mg) would suppress cortisol production in a normal person. If suppression was not achieved then hypercortisolism is present. The high dose dexamethasone test uses 2mg which is capable of producing partial/complete suppression of cortisol if the problem is a pituitary tumour (since the pituitary retains some feedback control) However an ectopic source of ACTH would not be responsive to exogenous feedback and so ins not suppressed. This lady therefore has Cushing's Syndrome caused by an ectopic source of ACTH. The darkening of the palmar crease confirms excess ACTH and the hypokalaemia supports this showing there is excessive aldosterone stimulation. Common causes for ectopic ACTH = Small cell carcinoma of the lung and Carcinoid tumours. The presence of Acanthosis nigricans (velvet under axilla) might push you towards investigating for carcionoid tumours. NB: Acanthosis is not only caused by Diabetes and in real life is frequently followed up to screen for Ca. EMQS nigricans + Diabetes pretty much

Answer 88

H. Panic attack

Answer 89

E. Phaechromocytoma

Answer 90

G. Inconclusive sample

Answer 91

C. Insulinoma

Answer 92

D. Grave's disease

Answer 93

C. Inadequate treatment In hypothyrodisim if it is primary, ( which the majority of cases are) both the TSH and TRH (thyrotrophin releasing hormone) will be high due to loss of negative feedback. Throxine replacement is the normal treatment, however this patient still has hypothyroid symptoms which would suggest she is not receiving enough T4 to be euthyroid. The consequence of this is that her TSH and TRH are probably not suppressed to normal levels. TRH stimulates prolactin production therefore long term hypothyroid patients can develop hyperprolactinaemia. Remember to treat the cause: if the cause is a prolactinoma, management centers around dopamine agonists (Cabergoline or Bromocriptine) and/or surgery.

Answer 94

F. Non-epileptic seizure This young man seems to have a history suggestive of an epileptic seizure. However when investigating seizures it is important not to jump straight to epilepsy as there are several metabolic and psychogenic situations that can cause seizures which mimic epileptic fits. Deranged sodium and hypoglycaemia can cause fits as can panic attacks. In most seizures of organic cause the cortisol is usually raised (acute stress response). Prolactin levels however do not change with all seizures, in tonic clonic seizures and temproal lobe epilepsy the post ictal prolactin is usually raised at least 3-fold (it can be as mucha as 25 times baseline value). If somebody has a history suggestive of epilepsy and their prolactin is raised above 3 fold it is almost certain that their seizure was epileptic.

Answer 95

E. Microadenoma There are no symptoms to suggest space occupying effects of a macroadenoma so it is most likely this lady has a microadenoma (<1cm). high levels of prolactin cause hypooestrogenism and counteract dopamines effect on arousal thus accounting for the lowered libido.

Answer 96

D. Macroadenoma Double vision and headaches suggest that the cause of the high prolactin is large and is compressing structures areound the pituitary notably the optic chiasm. Out of the options it is most likely she has a macroadenoma (>1cm) due to these space-occupying effects.

Answer 97

A. Metoclopramide With gastritis nausea and vomiting are prominent symptoms, to manage this this gentleman has been prescribed an anti-emetic: metoclopramide. This works partially by antagonising dopamine in the chemotactic trigger zone. It is this antagonism of Dopamine (which normally inhibits prolactin release) which can lead to hyperprolactinaemia.

Answer 98

E. SIADH Opioids and operative pain are known causes for SIADH. The man is hyponatraemic with concentrated urine. His urine is inappropriately concentrated given his dilutional hyponatraemia. This is caused by excessive production of ADH. Excessive fluid replacement post surgery can exacerbate SIADH. The diagnosis requires absence of hypovolaemia and oedema (and use of diuretics). It also depends on urine osmolality being >500 mOsm and high in sodium. Causes Include Drugs, malignancies (ie.SCC of the lung) CNS disorders including Guillain Barré and head trauma. Chest infections in hospital can lead to SIADH developing. Metabolic diseases can also be responsible.

Answer 99

B. Liddle's syndrome This man has Liddle's syndrome a form of pseudohyperaldosteronism which is caused by overactive eNaC ( epithelial sodium channel) found in the collecting ducts. Liddles is an autosomal dominant condition hence the strong family history. The biochemical picture of hypernatraemia and hypokalaemia mimics that of hyperaldosteronism, normally aldosterone modulates the eNacs activity however in Liddle's the problem is the channel does not dissociate properly so blockade of aldosterone with spironolactone is ineffective. Direct eNaC antagonists are used: Amiloride or Triamterene in conjunction with a low sodium diet.

Answer 100

C. Conn's adenoma This lady has true primary hyperaldosteronism caused by a conns adenoma. Hyperaldosteronism should always be considered in the young hypertensive. Hypokalaemia and hypernatraemia are caused by the aldosterone excess. Headaches are due to the hypertension and hypokalaemia there are also a number of musculoskeletal symptoms that patients complain of. The tingling can be peri-oral and the twitching was alluding to trousseau's sign of hypocalcaemia. Trousseau's sign : ALWAYS an EMQ in the exam, basically in hypocalcaemia there is carpo-pedal spasm when blood pressure cuff is inflated to above systolic pressure. Chvostek's sign : tapping the zygoma produces facial spasm. the hypocalcaemia is caused because hyperaldosteronism leads to metabolic alkalosis and the raised blood pH makes calcium less available to tissues thus causing a functional hypocalcaemia. Liddles is not an option because there is nil family history of note. Mx = spironolactone and surgery.

Answer 101

D. Addison's disease Tanned with hyponatraemia: it must be Addison's. The hyperkalaemia shows there is mineralocorticoid deficiency..replacement therapy is key as Addisonian crisis may ensue.

Answer 102

E. SIADH Smoker with radiotherapy: the hyponatraemia is caused by SIADH, the aetiology is paraneoplastic syndrome. He has a bronchial or small cell carcinoma which is producing excess ADH.