Murtagh Diagnoses Flashcards
1
Q
angina + dyspnoea + blackouts
A
aortic stenosis
2
Q
menstrual dysfunction + obesity + hirsutism
A
polycystic ovarian syndrome
3
Q
dysmenorrhoea + heavy menstrual bleeding + dyspareunia (difficult/painful sexual intercourse) + abdominal/pelvic pain
A
endometriosis
4
Q
abdominal pain + diarrhoea + fever
A
Crohn disease
5
Q
ataxia + hearing loss + facial numbness
A
acoustic neuroma
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.
7
Q
ECG: peaked T waves, ↓ QT, ↑ PR interval → arrhythmias
A
Hyperkalaemia
8
Q
fever + rigors + hypotension
A
septicaemia
9
Q
pale child + severe ‘colic’ + vomiting + inactivity/lethargy
A
acute intussusception
10
Q
fatigue + palpitations + exertional dyspnoea
A
anaemia
11
Q
(<2 years): lethargy + irritability + pallor
A
iron deficiency anaemia
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.
13
Q
Fever of unknown origin + cardiac murmur + embolic phenomena
A
infective endocarditis
14
Q
intense abdominal pain + pale and ‘shocked’ ± back pain
A
ruptured AAA
15
Q
localised RIF pain + a/n/v + guarding
A
acute appendicitis
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.
17
Q
acute abdominal pain + left-sided radiation + fever
A
acute diverticulitis
18
Q
amenorrhoea (65–80%) + lower abdominal pain (95+%) + abnormal vaginal bleeding (65–85%)
A
ectopic pregnancy
19
Q
intense pain (loin) → groin + microscopic haematuria
A
ureteric colic
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.
21
Q
fever (often with rigor) + upper abdominal pain + jaundice
A
acute cholangitis
22
Q
fatigue + weight loss + iron deficency + diarrhoea
A
coeliac disease
23
Q
anorexia/nausea + faecal leaking + abdominal bloating
A
faecal impaction
24
Q
abdominal cramps + flatulence + profuse diarrhoea
Camp
A
giardiasis
25
lethargy + abdominal pains + irritability (in child)
lead poisoning
26
aching bones + waddling gait + deafness
Paget disease
27
fever + drooling + stridor (child)
epiglottitis
28
URTI + brassy cough + inspiratory stridor
croup
29
drowsiness + tachypnoea + chest wall recession
pneumonia
30
‘flu’ + headache + dry cough
atypical pneumonia
31
(<12 months): drowsiness + cough + wheezing (associated with viral infection)
bronchiolitis
32
coughing + wheezing + chest wall recession
asthma or aspirated foreign body if localized
33
fever + conjunctivitis + skin changes (cracked red lips, maculopapular rash, erythema of palms/soles,
desquamation of fingertips)
Kawasaki syndrome
34
malaise + cough + fever (± erythema nodosum)
sarcoidosis or TB (mantoux test to diferentiate them)
35
(history of travelling) + fever + chills + headache
malaria
36
fever + bradycardia + jaundice
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.
37
fever + severe aching (especially headache) + rash
dengue fever
38
febrile illness + vomiting + stupor
Japanese B encephalitis
39
fever + pneumonia + myalgia
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.
40
painful bite + paraesthesia + hydrophobia (pain with drinking)
rabies
41
‘stepladder’ fever + abdominal pain + relative bradycardia
typhoid (early)
42
fever + vomiting + abrupt onset ‘rice water’ diarrhoea
cholera
43
malaise + cough + weight loss ± fever/night sweats + haemoptysis
pulmonary TB
44
malaise + cough + weight loss (+ smoking)
lung carcinoma
45
(male child) snorting, blinking + oral noises (e.g. grunts) ± loud expletives
Tourette syndrome
46
fever + severe malaise + generalized lymphadenopathy
acute HIV
47
thirst + polyuria + weight loss
type 1 diabetes
48
polyuria + polydipsia + skin/orifice infections
diabetes mellitus
49
weakness + polyuria + polydipsia
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.
50
fatigue + polyarthritis + fever or skin lesions
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.
51
finger discomfort + arthralgia + GORD (± skin tightness)
scleroderma
52
dry eyes + dry mouth + arthritis
Sjögren syndrome
53
arthralgia + weight loss + fever (± skin lesions)
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.
54
weakness + joint and muscle pain + violaceous facial rash + raised CK
dermatomyositis
55
malaise + painful shoulder girdle + morning stiffness (>50 years)
no raised CK
polymyalgia rheumatica
56
fatigue/malaise + headache + jaw claudication
temporal arteritis
57
urethritis + conjunctivitis ± iritis + arthritis
reactive arthritis
58
arthralgia (lower limbs) + rash (buttocks, legs) ± abdominal pain
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.
59
recurrent oral and genital ulcers + uveitis + arthritis
Behçet syndrome
60
genital pruritus + soreness + white wrinkled plaques
lichen sclerosus
61
genital pruritus + soreness + white wrinkled plaques
lichen sclerosus
62
bruising + oral bleeding + epistaxis
ITP
63
menorrhagia + bruising + increased bleeding
1. incisions 2. dental 3. mucosal
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.
64
spontaneous haemarthrosis + muscle bleeds + delayed bleeding
haemophilia A
65
facial rash + intellectual disability + seizures
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
haematuria + dysmorphic RBCs/casts + hypertension
acute nephritic syndrome
67
proteinuria + generalised oedema + hypoalbuminaemia
nephrotic syndrome
68
1–2 WEEKS AFTER THE INFECTION
discoloured urine + peri-orbital oedema + oliguria
poststreptococcal glomerulonephritis
69
1-2 DAYS AFTER INFECTION
discoloured urine + peri-orbital oedema + oliguria
IgA Nephropathy
70
malaise (extreme) + a/n/v + confusion (± oliguria)
AKI
71
fatigue + a/n/v + sallow skin
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
severe abdominal pain + abnormal illness behaviour + ‘red’ urine
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
loin pain + haematuria + palpable loin mass
kidney carcinoma
74
malaise + night sweats + painless lymphadenopathy
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
fever + myalgia/headache + non-productive cough
atypical pneumonia
76
malaise + fever + cough (± erythema nodosa
TB or sarcoidosis
77
arthralgia + Raynaud phenomenon + GORD (± skin changes)
systemic sclerosis
78
fatigue + headache + jaw claudication
temporal arteritis
79
weakness + back pain + weight loss
multiple myeloma
80
lethargy + physical/mental slowing + constipation
hypothyroidism
81
tiredness + husky voice + cold intolerance
Cardio
myxoedema
82
anxiety + weight loss + weakness
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
nasal problems + fitting problems (e.g. rings, shoes) + sweating
acromegaly
84
amenorrhoea + loss of axillary and pubic hair + breast atrophy
hypopituitarism (female)
85
↓ libido + impotence + loss of body hair
hypopituitarism (male)
86
fatigue + a/n/v + abdominal pain (± skin discolouration)
Addison disease
87
fatigue + a/n/v + abdominal pain (± skin discolouration)
Infection/trauma present
Addisonian crisis
88
plethoric moon face + thin extremities + muscle weakness
Cushing syndrome
89
episodic headache/hypertension + sweating + tachycardia
phaeochromocytoma
90
weakness + constipation + polyuria
hypercalcaemia
91
cramps + confusion + tetany
hypocalcaemia
92
haematuria + abdominal mass + malaise
tumour doesn’t cross the midline
constitutional symptoms **UNCOMMON**
mass fixed and immobile
calcifications **uncommon**
**AGE** 3-4 years old
nephroblastoma (Wilms tumour)
93
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
neuroblastoma
94
(<3 months, usually male): weakness + weight loss + vomiting (severe, intermittent)
pyloric stenosis
95
(neonate): vomiting (after first feeds) + drooling + abdominal distension
oesophageal or duodenal
atresia
96
severe pain + nausea and vomiting + relative lack of abdominal signs
acute pancreatitis
97
painful swallowing + referred ear pain + hoarseness
pharyngeal cancer
98
fatigue + progressive dysphagia + weight loss
oesophageal cancer
99
# Associated with alcoholism and chronic pancreatitis
jaundice + constitutional symptoms (malaise, anorexia, weight loss) + epigastric pain (radiating to
back)
pancreatic cancer
100
abdominal discomfort + anorexia + abdominal bloating/distension
Hint > OBGYN
ovarian cancer
101
blood in stools + abdominal discomfort + change in bowel habit
colon cancer
102
malaise + pallor + bone pain
acute lymphoblastic leukaemia (ALL)
## Footnote
L for umeraL/femoraL/radiaL
103
malaise + pallor + oral problems
acute myeloid leukaemia (AML)
## Footnote
M for Mouth
104
fatigue + fever/night sweats + abdominal fullness (splenomegaly)
chronic myeloid leukaemia (CML)
105
fatigue + fever/night sweats + weight loss + lymphadenopathy
Difference is fatigue 🔥
chronic lymphoblastic leukaemia (CLL)
106
malaise + night sweats + pruritus
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:
### Explanation:
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.
### Pathophysiology:
- **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.
### Diagnostic Context:
- 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.
### Clinical Importance:
- **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.
### Summary:
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
malaise + fever/night sweats + lymphadenopathy
non-Hodgkin's lymphoma
108
weakness + unexplained back pain + susceptibility to infection
multiple myeloma
109
fever + vomiting + headache
meningitis
110
drowsiness + fever + purpuric rash
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).
### Key Features and Symptoms
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.
### Transmission
- 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).
### Risk Factors
- 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.
### Diagnosis
- **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.
### Treatment
- **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.
### Prevention
- **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.
### Prognosis
111
occipital headache + vomiting + altered consciousness + neck stiffness
subarachnoid haemorrhage
112
retro-orbital headache + rhinorrhoea + lacrimation
cluster headache
113
headache + vomiting + visual aura
migraine with aura
114
drowsiness + vomiting + seizure
raised intracranial pressure
115
headache + a/n/v + ataxia
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
mental dysfunction + vomiting + (waking/early morning) headache
## Footnote
late presentation
cerebral tumour
117
obese young patient + headache + visual obscurations + nausea
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
fatigue + psychiatric symptoms + myoclonus
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
malaise + headache + undulant fever
Dairy products
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
fever + headache + prostration
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
abrupt fever + headache + conjunctivitis
## Footnote
Farmer with skin lesion in contact with water contaminated with animal urine (igs, cattle, rodents, dogs)
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
indrawn eye + small pupil + ptosis (± anhydrosis)
pancostal tumor (Horner syndrome)
123
malaise + URTs (e.g. rhinitis, sinusitis) + LRTs (e.g. wheeze, cough)
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
asthma + rhinitis + vasculitis + hypereosinophilia
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
failure to thrive + chronic cough (recurrent chest infections) + loose bowel actions
cystic fibrosis
126
light-brown skin patches + skin tumours + axillary freckles
neurofibromatosis (Von Recklinghausen
disorder)
127
male child + gait disorder + bulky calves
Duchenne's muscular dystrophy
128
chorea + abnormal behaviour + dementia + family history
Huntington's disease
129
pallor + jaundice + hepatosplenomegaly
thalassaemia major
130
Cardiac defects, duodenal atresia
typical facies + hypotonia + single palmar crease
Down syndrome
131
characteristic facies + intellectual disability + large testes
Fragile X syndrome
132
neonatal hypotonia + failure to thrive + obesity (later)
Prader–Willi syndrome
133
tall stature + dislocated lens and myopia + aortic root dilatation
Marfan syndrome
134
short stature + webbed neck + facies
Turner syndrome
135
facies + short stature + pulmonary stenosis
Noonan syndrome
## Footnote
male Turner
136
abnormal facies + growth retardation + microcephaly + history of alcohol intake during pregnancy
fetal alcohol spectrum disorder
137
delayed communication skills + poor socialisation + repetitive/obsessive behaviour/restriction of
interests
autism spectrum disorder
138
acute diarrhoea + colicky abdominal pain ± vomiting
gastroenteritis
139
(young adult) diarrhoea ± blood and mucus + abdominal cramps
inflammatory bowel disease
(UC/Crohn)
140
(young adult) diarrhoea ± blood and mucus + abdominal cramps + constitutional symptoms ± eyes/joints
Crohn's disease
141
pale bulky offensive stools, difficult to flush, weight loss
malabsorption
142
fatigue + weight loss + iron deficiency
## Footnote
gluten
coeliac disease
143
failure to thrive (child) + recurrent chest infections
cystic fibrosis
144
altered bowel habit: diarrhoea ± constipation ± rectal bleeding ± abdominal discomfort
colorectal carcinoma
145
diarrhoea (fluid/incontinent) + constipation + abdominal discomfort + anorexia/nausea
faecal impaction
146
profuse watery diarrhoea + abdominal cramps and increasing distension (on antibiotics)
pseudomembranous colitis (Girotra’s triad)
147
variable diarrhoea/constipation + abdominal discomfort + mucus PR + flatulence
irritable bowel syndrome
148
unilateral) tinnitus + hearing loss + unsteady gait
acoustic neuroma
149
acute vertigo + nausea + vomiting
vestibular neuronitis
150
acute vertigo + nausea + vomiting + hearing loss ± tinnitus
acute labyrinthitis
151
vertigo + vomiting + tinnitus + sensorineural deafness
Ménière's syndrome
152
(adolescent): limp + knee pain + hip pain
slipped capital femoral epiphysis
153
knee pain (after activity) + tender knee ‘lump’ + pain on kneeling
Osgood–Schlatter disorder
154
mid to low back pain/discomfort + inability to touch toes + kyphosis
Scheuermann disorder
155
dysuria + fever + perineal pain
acute prostatitis
156
poor urine flow + straining to void + frequency
bladder outlet obstruction
157
patch of complete hair loss + clean scalp + exclamation-mark hairs
alopecia areata
158
stressful event + 2–3 month gap to diffuse hair loss + ‘white bulbs’
telogen effluvium
159
fair females under 5 + thin wispy hair + easy loss with pulling
loose anagen syndrome
