Murtagh Diagnoses Flashcards

1
Q

angina + dyspnoea + blackouts

A

aortic stenosis

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2
Q

menstrual dysfunction + obesity + hirsutism

A

polycystic ovarian syndrome

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3
Q

dysmenorrhoea + heavy menstrual bleeding + dyspareunia (difficult/painful sexual intercourse) + abdominal/pelvic pain

A

endometriosis

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4
Q

abdominal pain + diarrhoea + fever

A

Crohn disease

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5
Q

ataxia + hearing loss + facial numbness

A

acoustic neuroma

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6
Q

fatigue + muscle weakness + cramps

A

Hypokalaemia

Flashcard:

Symptoms of fatigue, muscle weakness, and cramps can indicate:

  • Hypokalemia: Low potassium levels, affecting muscle function.
  • Hypocalcemia: Low calcium levels, causing muscle issues and other symptoms like tingling and abnormal heart rhythms.
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7
Q

ECG: peaked T waves, ↓ QT, ↑ PR interval → arrhythmias

A

Hyperkalaemia

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8
Q

fever + rigors + hypotension

A

septicaemia

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9
Q

pale child + severe ‘colic’ + vomiting + inactivity/lethargy

A

acute intussusception

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10
Q

fatigue + palpitations + exertional dyspnoea

A

anaemia

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11
Q

(<2 years): lethargy + irritability + pallor

A

iron deficiency anaemia

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12
Q

fatigue + dizziness + exertional dyspnoea

A

cardiomyopathy

Fatigue, dizziness, and exertional dyspnea can indeed be symptoms of anemia, which is a condition characterized by a deficiency of red blood cells or hemoglobin in the blood. However, these symptoms can also indicate cardiomyopathy, as both conditions can result in decreased oxygen delivery to tissues and organs.

In anemia, the reduced oxygen-carrying capacity of the blood leads to symptoms such as fatigue (due to tissue hypoxia), dizziness (due to reduced blood flow to the brain), and exertional dyspnea (as the body tries to compensate for decreased oxygen availability by increasing respiratory rate and effort).

In cardiomyopathy, the heart’s inability to pump blood effectively can also lead to reduced oxygen delivery to tissues and organs, resulting in similar symptoms of fatigue, dizziness, and exertional dyspnea.

Therefore, while anemia is a potential cause of these symptoms, cardiomyopathy is another condition to consider, particularly if there are additional signs or risk factors suggestive of heart disease. Differentiating between the two conditions may require further evaluation, such as blood tests to assess for anemia or cardiac imaging studies to evaluate heart function.

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13
Q

Fever of unknown origin + cardiac murmur + embolic phenomena

A

infective endocarditis

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14
Q

intense abdominal pain + pale and ‘shocked’ ± back pain

A

ruptured AAA

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15
Q

localised RIF pain + a/n/v + guarding

A

acute appendicitis

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16
Q

abdominal pain + malar flush + fever ± URTI

A

mesenteric adenitis

In simple terms, when someone experiences abdominal pain, a flushed appearance in the cheeks (malar flush), and possibly a fever along with symptoms of upper respiratory tract infection (URTI), it could indicate mesenteric adenitis.

Mesenteric adenitis is the inflammation of lymph nodes in the abdomen, typically due to a viral or bacterial infection. The abdominal pain is usually in the lower right side and can mimic appendicitis. The malar flush refers to the redness or flushing of the cheeks, which can occur due to the body’s response to infection or inflammation. The fever and symptoms of URTI suggest an underlying viral or bacterial infection, which can trigger inflammation in the abdominal lymph nodes, leading to mesenteric adenitis.

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17
Q

acute abdominal pain + left-sided radiation + fever

A

acute diverticulitis

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18
Q

amenorrhoea (65–80%) + lower abdominal pain (95+%) + abnormal vaginal bleeding (65–85%)

A

ectopic pregnancy

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19
Q

intense pain (loin) → groin + microscopic haematuria

A

ureteric colic

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20
Q

severe RUQ abdominal pain + vomiting + pain radiation

A

biliary colic

Biliary colic is like a sharp pain in your upper belly or back that happens when your gallbladder squeezes too hard or your bile duct is blocked, often caused by gallstones. It can come and go, usually lasting a few hours at a time, and may be triggered by fatty or greasy foods.

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21
Q

fever (often with rigor) + upper abdominal pain + jaundice

A

acute cholangitis

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22
Q

fatigue + weight loss + iron deficency + diarrhoea

A

coeliac disease

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23
Q

anorexia/nausea + faecal leaking + abdominal bloating

A

faecal impaction

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24
Q

abdominal cramps + flatulence + profuse diarrhoea
Camp

A

giardiasis

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25
Q

lethargy + abdominal pains + irritability (in child)

A

lead poisoning

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26
Q

aching bones + waddling gait + deafness

A

Paget disease

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27
Q

fever + drooling + stridor (child)

A

epiglottitis

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28
Q

URTI + brassy cough + inspiratory stridor

A

croup

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29
Q

drowsiness + tachypnoea + chest wall recession

A

pneumonia

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30
Q

‘flu’ + headache + dry cough

A

atypical pneumonia

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31
Q

(<12 months): drowsiness + cough + wheezing (associated with viral infection)

A

bronchiolitis

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32
Q

coughing + wheezing + chest wall recession

A

asthma or aspirated foreign body if localized

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33
Q

fever + conjunctivitis + skin changes (cracked red lips, maculopapular rash, erythema of palms/soles,
desquamation of fingertips)

A

Kawasaki syndrome

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34
Q

malaise + cough + fever (± erythema nodosum)

A

sarcoidosis or TB (mantoux test to diferentiate them)

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35
Q

(history of travelling) + fever + chills + headache

A

malaria

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36
Q

fever + bradycardia + jaundice

A

yellow fever

Yellow fever is a viral disease spread by mosquitoes. It can cause fever, muscle pain, headache, jaundice (yellowing of the skin and eyes), and sometimes death. It’s called “yellow fever” because it can make people’s skin and eyes turn yellow. Vaccination is available to prevent it.

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37
Q

fever + severe aching (especially headache) + rash

A

dengue fever

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38
Q

febrile illness + vomiting + stupor

A

Japanese B encephalitis

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39
Q

fever + pneumonia + myalgia

A

melioidosis

Melioidosis is a bacterial infection caused by the bacterium Burkholderia pseudomallei, found in soil and water in certain tropical regions. It can cause a range of symptoms, from mild fever and muscle aches to severe pneumonia and bloodstream infections. It’s often called the “great mimicker” because it can mimic other diseases, making it challenging to diagnose. Treatment usually involves antibiotics, but severe cases can be life-threatening.

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40
Q

painful bite + paraesthesia + hydrophobia (pain with drinking)

A

rabies

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41
Q

‘stepladder’ fever + abdominal pain + relative bradycardia

A

typhoid (early)

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42
Q

fever + vomiting + abrupt onset ‘rice water’ diarrhoea

A

cholera

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43
Q

malaise + cough + weight loss ± fever/night sweats + haemoptysis

A

pulmonary TB

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44
Q

malaise + cough + weight loss (+ smoking)

A

lung carcinoma

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45
Q

(male child) snorting, blinking + oral noises (e.g. grunts) ± loud expletives

A

Tourette syndrome

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46
Q

fever + severe malaise + generalized lymphadenopathy

A

acute HIV

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47
Q

thirst + polyuria + weight loss

A

type 1 diabetes

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48
Q

polyuria + polydipsia + skin/orifice infections

A

diabetes mellitus

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49
Q

weakness + polyuria + polydipsia

A

diabetes insipidus

Diabetes insipidus is a condition where your body can’t properly regulate water balance, leading to excessive urination and thirst. It happens when your body doesn’t produce enough of a hormone called antidiuretic hormone (ADH) or when your kidneys don’t respond properly to it. This can result in frequent urination, even at night, and constant thirst.

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50
Q

fatigue + polyarthritis + fever or skin lesions

A

SLE

Flashcard:

Symptoms of fatigue, polyarthritis, fever, or skin lesions can be seen in both SLE and rheumatic fever.

  • SLE: Autoimmune disease affecting multiple organs.
  • Rheumatic fever: Complication of untreated strep throat, primarily affecting the heart and joints.
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51
Q

finger discomfort + arthralgia + GORD (± skin tightness)

A

scleroderma

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52
Q

dry eyes + dry mouth + arthritis

A

Sjögren syndrome

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53
Q

arthralgia + weight loss + fever (± skin lesions)

A

polyarteritis nodosa

Polyarteritis nodosa is a rare autoimmune disease where the body’s immune system attacks the arteries, causing inflammation and damage to blood vessels. This can lead to problems with blood flow to various organs and tissues, causing symptoms like muscle and joint pain, skin rashes, abdominal pain, and sometimes organ damage. Treatment usually involves medications to suppress the immune system and reduce inflammation.

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54
Q

weakness + joint and muscle pain + violaceous facial rash + raised CK

A

dermatomyositis

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55
Q

malaise + painful shoulder girdle + morning stiffness (>50 years)
no raised CK

A

polymyalgia rheumatica

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56
Q

fatigue/malaise + headache + jaw claudication

A

temporal arteritis

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57
Q

urethritis + conjunctivitis ± iritis + arthritis

A

reactive arthritis

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58
Q

arthralgia (lower limbs) + rash (buttocks, legs) ± abdominal pain

A

Henoch–Schönlein purpura

Henoch-Schönlein purpura (HSP) is a condition that mainly affects children and causes inflammation of small blood vessels in the skin, joints, intestines, and kidneys. It often starts with a rash of purple spots on the skin, usually on the buttocks and legs, along with joint pain and abdominal pain. It’s typically triggered by a viral or bacterial infection. Most cases of HSP resolve on their own without treatment, but some may require medication to manage symptoms or complications.

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59
Q

recurrent oral and genital ulcers + uveitis + arthritis

A

Behçet syndrome

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60
Q

genital pruritus + soreness + white wrinkled plaques

A

lichen sclerosus

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61
Q

genital pruritus + soreness + white wrinkled plaques

A

lichen sclerosus

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62
Q

bruising + oral bleeding + epistaxis

A

ITP

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63
Q

menorrhagia + bruising + increased bleeding
1. incisions 2. dental 3. mucosal

A

Von Willebrand disease

Von Willebrand disease is a genetic disorder that affects blood clotting. People with this condition have low levels of a protein called von Willebrand factor, which helps blood platelets stick together and form clots to stop bleeding. As a result, they may experience frequent nosebleeds, easy bruising, and prolonged bleeding after injuries or surgeries. Treatment often involves medications to increase clotting and prevent excessive bleeding.

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64
Q

spontaneous haemarthrosis + muscle bleeds + delayed bleeding

A

haemophilia A

65
Q

facial rash + intellectual disability + seizures

A

tuberous sclerosis

Tuberous sclerosis is a rare condition where non-cancerous growths, called tumors, can form in different parts of the body like the brain, skin, kidneys, and other organs. These growths can cause various symptoms like seizures, skin patches, and problems with organs like the kidneys and lungs. Treatment aims to manage these symptoms and complications as they occur.

66
Q

haematuria + dysmorphic RBCs/casts + hypertension

A

acute nephritic syndrome

67
Q

proteinuria + generalised oedema + hypoalbuminaemia

A

nephrotic syndrome

68
Q

1–2 WEEKS AFTER THE INFECTION
discoloured urine + peri-orbital oedema + oliguria

A

poststreptococcal glomerulonephritis

69
Q

1-2 DAYS AFTER INFECTION
discoloured urine + peri-orbital oedema + oliguria

A

IgA Nephropathy

70
Q

malaise (extreme) + a/n/v + confusion (± oliguria)

A

AKI

71
Q

fatigue + a/n/v + sallow skin

A

chronic kidney failure

Sallow skin refers to a complexion that appears dull, yellowish, or pale. It can be caused by various factors such as dehydration, lack of sunlight exposure, certain medical conditions, or smoking.

72
Q

severe abdominal pain + abnormal illness behaviour + ‘red’ urine

A

acute intermittent porphyria

Acute intermittent porphyria is a rare genetic disorder that affects the way your body makes a substance called heme, which is important for hemoglobin production in red blood cells. When heme production is disrupted, certain chemicals called porphyrins build up in your body, causing symptoms like severe abdominal pain, muscle weakness, nausea, and confusion. Attacks can be triggered by factors like stress, certain medications, and fasting. Treatment involves managing symptoms and avoiding triggers.

73
Q

loin pain + haematuria + palpable loin mass

A

kidney carcinoma

74
Q

malaise + night sweats + painless lymphadenopathy

A

Non-Hodgkin’s lymphoma

Non-Hodgkin’s lymphoma is a type of cancer that affects the lymphatic system, which is part of the body’s immune system. It occurs when white blood cells called lymphocytes grow out of control and form tumors in lymph nodes or other lymphatic tissues. This can cause symptoms like swollen lymph nodes, fever, weight loss, and fatigue. Treatment depends on the type and stage of the lymphoma but may include chemotherapy, radiation therapy, immunotherapy, or targeted therapy.

75
Q

fever + myalgia/headache + non-productive cough

A

atypical pneumonia

76
Q

malaise + fever + cough (± erythema nodosa

A

TB or sarcoidosis

77
Q

arthralgia + Raynaud phenomenon + GORD (± skin changes)

A

systemic sclerosis

78
Q

fatigue + headache + jaw claudication

A

temporal arteritis

79
Q

weakness + back pain + weight loss

A

multiple myeloma

80
Q

lethargy + physical/mental slowing + constipation

A

hypothyroidism

81
Q

tiredness + husky voice + cold intolerance

Cardio

A

myxoedema

82
Q

anxiety + weight loss + weakness

A

thyrotoxicosis

Thyrotoxicosis is when your thyroid gland makes too much thyroid hormone. This can speed up your body’s metabolism, causing symptoms like weight loss, fast heartbeat, sweating, nervousness, and feeling hot all the time. It’s usually caused by conditions like Graves’ disease or a thyroid nodule that’s producing too much hormone. Treatment may involve medications, radioactive iodine, or surgery to reduce thyroid hormone levels.

83
Q

nasal problems + fitting problems (e.g. rings, shoes) + sweating

A

acromegaly

84
Q

amenorrhoea + loss of axillary and pubic hair + breast atrophy

A

hypopituitarism (female)

85
Q

↓ libido + impotence + loss of body hair

A

hypopituitarism (male)

86
Q

fatigue + a/n/v + abdominal pain (± skin discolouration)

A

Addison disease

87
Q

fatigue + a/n/v + abdominal pain (± skin discolouration)

Infection/trauma present

A

Addisonian crisis

88
Q

plethoric moon face + thin extremities + muscle weakness

A

Cushing syndrome

89
Q

episodic headache/hypertension + sweating + tachycardia

A

phaeochromocytoma

90
Q

weakness + constipation + polyuria

A

hypercalcaemia

91
Q

cramps + confusion + tetany

A

hypocalcaemia

92
Q

haematuria + abdominal mass + malaise
tumour doesn’t cross the midline
constitutional symptoms UNCOMMON
mass fixed and immobile
calcifications uncommon
AGE 3-4 years old

A

nephroblastoma (Wilms tumour)

93
Q

fever + malaise (extreme) + a/n/v (± anaemia)
tumour doesn’t cross the midline
Constitutional symptoms COMMON
mass can be displaced during physical examination
calcifications common
AGE < 2 years old

A

neuroblastoma

94
Q

(<3 months, usually male): weakness + weight loss + vomiting (severe, intermittent)

A

pyloric stenosis

95
Q

(neonate): vomiting (after first feeds) + drooling + abdominal distension

A

oesophageal or duodenal
atresia

96
Q

severe pain + nausea and vomiting + relative lack of abdominal signs

A

acute pancreatitis

97
Q

painful swallowing + referred ear pain + hoarseness

A

pharyngeal cancer

98
Q

fatigue + progressive dysphagia + weight loss

A

oesophageal cancer

99
Q

Associated with alcoholism and chronic pancreatitis

jaundice + constitutional symptoms (malaise, anorexia, weight loss) + epigastric pain (radiating to
back)

A

pancreatic cancer

100
Q

abdominal discomfort + anorexia + abdominal bloating/distension

Hint > OBGYN

A

ovarian cancer

101
Q

blood in stools + abdominal discomfort + change in bowel habit

A

colon cancer

102
Q

malaise + pallor + bone pain

A

acute lymphoblastic leukaemia (ALL)

L for umeraL/femoraL/radiaL

103
Q

malaise + pallor + oral problems

A

acute myeloid leukaemia (AML)

M for Mouth

104
Q

fatigue + fever/night sweats + abdominal fullness (splenomegaly)

A

chronic myeloid leukaemia (CML)

105
Q

fatigue + fever/night sweats + weight loss + lymphadenopathy

Difference is fatigue 🔥

A

chronic lymphoblastic leukaemia (CLL)

106
Q

malaise + night sweats + pruritus

A

Hodgkin’s lymphoma

The combination of malaise, night sweats, and pruritus (itching) is suggestive of Hodgkin’s lymphoma due to the specific nature of these symptoms and their common association with this type of cancer. Here’s why each symptom is relevant in the context of Hodgkin’s lymphoma:

  1. Malaise:
    • Generalized malaise or a feeling of discomfort and fatigue is a non-specific symptom often seen in various conditions, including infections and cancers. In Hodgkin’s lymphoma, malaise can result from the body’s immune response to the cancer.
  2. Night Sweats:
    • Night sweats are a classic symptom of Hodgkin’s lymphoma. These are often drenching and can significantly disrupt sleep. Night sweats in Hodgkin’s lymphoma are part of the systemic “B symptoms,” which also include unexplained fever and significant weight loss.
  3. Pruritus:
    • Pruritus, or severe itching, is a less common but notable symptom of Hodgkin’s lymphoma. The exact cause is not fully understood but is thought to be related to cytokine release or the body’s immune response to the lymphoma.
  • B Symptoms: Night sweats, fever, and weight loss are considered “B symptoms” and are indicative of systemic involvement in Hodgkin’s lymphoma. The presence of these symptoms often suggests a more advanced disease and can influence staging and treatment decisions.
  • Immune Response: The immune system’s response to lymphoma cells can produce a variety of systemic symptoms, including malaise and pruritus. The release of cytokines and other immune mediators by the body in response to the cancer can lead to these symptoms.
  • When a patient presents with the triad of malaise, night sweats, and pruritus, especially in the absence of other obvious causes (e.g., infections, autoimmune disorders), Hodgkin’s lymphoma should be considered as a differential diagnosis.
  • Further investigation, including physical examination for lymphadenopathy (enlarged lymph nodes), imaging (e.g., CT or PET scan), and biopsy of a suspicious lymph node, would be warranted to confirm the diagnosis.
  • Early Recognition: Recognizing these symptoms as potential indicators of Hodgkin’s lymphoma can lead to early diagnosis and treatment, which is crucial for a better prognosis.
  • Comprehensive Evaluation: A thorough evaluation including patient history, physical examination, and appropriate diagnostic tests is essential when these symptoms are present.

The combination of malaise, night sweats, and pruritus is significant for Hodgkin’s lymphoma because these symptoms are commonly associated with the disease and indicate systemic involvement. Recognizing this symptom complex can prompt further investigation and early diagnosis, leading to better management and outcomes for the patient.

107
Q

malaise + fever/night sweats + lymphadenopathy

A

non-Hodgkin’s lymphoma

108
Q

weakness + unexplained back pain + susceptibility to infection

A

multiple myeloma

109
Q

fever + vomiting + headache

A

meningitis

110
Q

drowsiness + fever + purpuric rash

A

meningococcal infection

Meningococcal infection is caused by the bacterium Neisseria meningitidis, also known as meningococcus. This bacterium can lead to severe and sometimes life-threatening illnesses, primarily meningitis (infection of the membranes covering the brain and spinal cord) and septicemia (bloodstream infection).

  1. Meningitis:
    • Symptoms: Sudden onset of fever, headache, stiff neck, nausea, vomiting, increased sensitivity to light, and altered mental status (confusion, drowsiness).
    • Complications: Without prompt treatment, it can lead to brain damage, hearing loss, or learning disabilities.
  2. Septicemia:
    • Symptoms: Fever, fatigue, vomiting, cold hands and feet, severe aches or pain in muscles, joints, chest, or abdomen, rapid breathing, and a distinctive purplish rash.
    • Complications: Can progress rapidly to septic shock, leading to organ failure and death if not treated immediately.
  • The bacteria are spread through respiratory droplets, typically by close or prolonged contact with an infected person (e.g., coughing, kissing, or living in close quarters such as dormitories or military barracks).
  • Infants, adolescents, and young adults are at higher risk.
  • People with certain medical conditions (e.g., asplenia, complement component deficiencies) or those taking specific medications.
  • Living in or traveling to areas where meningococcal disease is more common.
  • Lumbar Puncture (Spinal Tap): To obtain cerebrospinal fluid (CSF) for analysis.
  • Blood Tests: To detect bacteria or bacterial DNA in the bloodstream.
  • Cultures: Growing bacteria from blood, CSF, or other sterile body fluids.
  • PCR (Polymerase Chain Reaction): To detect bacterial DNA in CSF or blood.
  • Antibiotics: Prompt treatment with intravenous antibiotics such as penicillin, ceftriaxone, or cefotaxime is crucial.
  • Supportive Care: Hospitalization for monitoring and supportive care, which may include fluids, oxygen, and medications to manage symptoms and complications.
  • Vaccination: Several meningococcal vaccines are available and recommended for certain age groups and risk factors:
    • MCV4 (MenACWY): Protects against serogroups A, C, W, and Y. Recommended for adolescents, with a booster dose in later adolescence.
    • MenB: Protects against serogroup B. Recommended for people aged 16-23 years and those at increased risk.
  • Antibiotic Prophylaxis: For close contacts of someone with a meningococcal infection to prevent the spread.
111
Q

occipital headache + vomiting + altered consciousness + neck stiffness

A

subarachnoid haemorrhage

112
Q

retro-orbital headache + rhinorrhoea + lacrimation

A

cluster headache

113
Q

headache + vomiting + visual aura

A

migraine with aura

114
Q

drowsiness + vomiting + seizure

A

raised intracranial pressure

115
Q

headache + a/n/v + ataxia

A

medulloblastoma

Medulloblastoma is a type of brain tumor that usually occurs in children. It starts in the lower back part of the brain called the cerebellum. It can cause symptoms like headaches, nausea, and problems with balance and coordination. Treatment often involves surgery, radiation, and chemotherapy.

116
Q

mental dysfunction + vomiting + (waking/early morning) headache

late presentation

A

cerebral tumour

117
Q

obese young patient + headache + visual obscurations + nausea

A

idiopathic intracranial
hypertension

flashcards:

Idiopathic Intracranial Hypertension (IIH):
- Increased pressure in the skull without clear cause.
- Symptoms: headaches, vision problems, ringing in the ears.
- Causes: often unknown, but obesity and certain medications can play a role.
- Treatment: lifestyle changes, medications, or procedures to reduce skull pressure.

118
Q

fatigue + psychiatric symptoms + myoclonus

A

Creutzfeldt–Jakob disease

Why Creutzfeldt-Jakob Disease Causes These Symptoms:

  1. Fatigue:
    • The disease affects the brain’s functions, leading to cognitive decline and physical weakness, resulting in fatigue.
  2. Psychiatric Symptoms:
    • Damage to the brain can cause changes in mood, behavior, and personality, resulting in psychiatric symptoms such as depression, anxiety, and psychosis.
  3. Myoclonus:
    • Creutzfeldt-Jakob disease damages the brain’s neurons, leading to involuntary muscle jerks or spasms known as myoclonus.
119
Q

malaise + headache + undulant fever
Dairy products

A

brucellosis

Brucellosis is a bacterial infection primarily transmitted from animals to humans through consumption of unpasteurized dairy products, contact with infected animals, or inhalation of contaminated air. Symptoms include fever, sweating, muscle pain, and fatigue. Treatment typically involves antibiotics, but prevention through proper food handling and animal vaccination is important.

120
Q

fever + headache + prostration

A

Q fever

Prostration refers to a state of extreme physical weakness or exhaustion, often to the point of collapsing or lying flat on the ground. It can be caused by various factors such as illness, dehydration, or intense physical exertion.

121
Q

abrupt fever + headache + conjunctivitis

Farmer with skin lesion in contact with water contaminated with animal urine (igs, cattle, rodents, dogs)

A

leptospirosis

Leptospirosis is a bacterial infection you can get from contact with water or soil contaminated with the urine of infected animals, like rats. It can cause flu-like symptoms and, in severe cases, damage your kidneys and liver. Treatment involves antibiotics, and you can prevent it by avoiding contaminated areas and wearing protective gear.

122
Q

indrawn eye + small pupil + ptosis (± anhydrosis)

A

pancostal tumor (Horner syndrome)

123
Q

malaise + URTs (e.g. rhinitis, sinusitis) + LRTs (e.g. wheeze, cough)

A

granulomatosis with polyangiitis

Granulomatosis with polyangiitis (GPA), formerly known as Wegener’s granulomatosis, is a rare autoimmune disease that causes inflammation of blood vessels (vasculitis) in various parts of the body. It often affects the nose, sinuses, lungs, and kidneys. Symptoms can include nasal congestion, sinus pain, cough, fatigue, and kidney problems. Treatment involves medications to suppress the immune system and reduce inflammation. Early detection and treatment are important to prevent serious complications.

124
Q

asthma + rhinitis + vasculitis + hypereosinophilia

A

Churg−Strauss vasculitis

Churg-Strauss vasculitis, now referred to as eosinophilic granulomatosis with polyangiitis (EGPA), is a rare autoimmune disease characterized by inflammation of small to medium-sized blood vessels. It typically affects the lungs, skin, nerves, and other organs. Symptoms may include asthma, sinusitis, skin rash, numbness or weakness in limbs, and fatigue. Treatment usually involves medications to suppress the immune system and reduce inflammation. Early diagnosis and treatment are essential to prevent complications and manage symptoms.

125
Q

failure to thrive + chronic cough (recurrent chest infections) + loose bowel actions

A

cystic fibrosis

126
Q

light-brown skin patches + skin tumours + axillary freckles

A

neurofibromatosis (Von Recklinghausen
disorder)

127
Q

male child + gait disorder + bulky calves

A

Duchenne’s muscular dystrophy

128
Q

chorea + abnormal behaviour + dementia + family history

A

Huntington’s disease

129
Q

pallor + jaundice + hepatosplenomegaly

A

thalassaemia major

130
Q

Cardiac defects, duodenal atresia
typical facies + hypotonia + single palmar crease

A

Down syndrome

131
Q

characteristic facies + intellectual disability + large testes

A

Fragile X syndrome

132
Q

neonatal hypotonia + failure to thrive + obesity (later)

A

Prader–Willi syndrome

133
Q

tall stature + dislocated lens and myopia + aortic root dilatation

A

Marfan syndrome

134
Q

short stature + webbed neck + facies

A

Turner syndrome

135
Q

facies + short stature + pulmonary stenosis

A

Noonan syndrome

male Turner

136
Q

abnormal facies + growth retardation + microcephaly + history of alcohol intake during pregnancy

A

fetal alcohol spectrum disorder

137
Q

delayed communication skills + poor socialisation + repetitive/obsessive behaviour/restriction of
interests

A

autism spectrum disorder

138
Q

acute diarrhoea + colicky abdominal pain ± vomiting

A

gastroenteritis

139
Q

(young adult) diarrhoea ± blood and mucus + abdominal cramps

A

inflammatory bowel disease
(UC/Crohn)

140
Q

(young adult) diarrhoea ± blood and mucus + abdominal cramps + constitutional symptoms ± eyes/joints

A

Crohn’s disease

141
Q

pale bulky offensive stools, difficult to flush, weight loss

A

malabsorption

142
Q

fatigue + weight loss + iron deficiency

gluten

A

coeliac disease

143
Q

failure to thrive (child) + recurrent chest infections

A

cystic fibrosis

144
Q

altered bowel habit: diarrhoea ± constipation ± rectal bleeding ± abdominal discomfort

A

colorectal carcinoma

145
Q

diarrhoea (fluid/incontinent) + constipation + abdominal discomfort + anorexia/nausea

A

faecal impaction

146
Q

profuse watery diarrhoea + abdominal cramps and increasing distension (on antibiotics)

A

pseudomembranous colitis (Girotra’s triad)

147
Q

variable diarrhoea/constipation + abdominal discomfort + mucus PR + flatulence

A

irritable bowel syndrome

148
Q

unilateral) tinnitus + hearing loss + unsteady gait

A

acoustic neuroma

149
Q

acute vertigo + nausea + vomiting

A

vestibular neuronitis

150
Q

acute vertigo + nausea + vomiting + hearing loss ± tinnitus

A

acute labyrinthitis

151
Q

vertigo + vomiting + tinnitus + sensorineural deafness

A

Ménière’s syndrome

152
Q

(adolescent): limp + knee pain + hip pain

A

slipped capital femoral epiphysis

153
Q

knee pain (after activity) + tender knee ‘lump’ + pain on kneeling

A

Osgood–Schlatter disorder

154
Q

mid to low back pain/discomfort + inability to touch toes + kyphosis

A

Scheuermann disorder

155
Q

dysuria + fever + perineal pain

A

acute prostatitis

156
Q

poor urine flow + straining to void + frequency

A

bladder outlet obstruction

157
Q

patch of complete hair loss + clean scalp + exclamation-mark hairs

A

alopecia areata

158
Q

stressful event + 2–3 month gap to diffuse hair loss + ‘white bulbs’

A

telogen effluvium

159
Q

fair females under 5 + thin wispy hair + easy loss with pulling

A

loose anagen syndrome