Passmedicine Flashcards
Which of the following features are not typically seen in a patient with adult onset Still’s disease?
A. Maculopapular rash B. Rheumatoid factor C. Pyrexia D. High ferritin level E. Lymphadenopathy
B RF
Adult-onset Still’s disease is a diagnosis of exclusion and can only be diagnosed if rheumatoid factor and anti-nuclear antibody are negative
Features arthralgia elevated serum ferritin rash: salmon-pink, maculopapular pyrexia typically rises in the late afternoon/early evening in a daily pattern and accompanies a worsening of joint symptoms and rash lymphadenopathy rheumatoid factor (RF) and anti-nuclear antibody (ANA) negative
The diagnosis of Still’s disease in adults can be challenging. The Yamaguchi criteria is the most widely used criteria and has a sensitivity of 93.5%.
Management
NSAIDs
should be used first-line to manage fever, joint pain and serositis
they should be trialled for at least a week before steroids are added.
steroids
may control symptoms but won’t improve prognosis
if symptoms persist, the use of methotrexate, IL-1 or anti-TNF therapy can be considered
Which one of the following is least associated with the development of gout?
A. Psoriasis B. Lesch-Nyhan syndrome C. Lymphoma D. Lithium toxicity E. Renal failure
A psoriasis
An 28-year-old man is investigated for recurrent lower back pain. A diagnosis of ankylosing spondylitis is suspected. Which one of the following investigations is most useful?
A. ESR B. X-ray of the sacro-iliac joints C. HLA-B27 testing D. X-ray of the thoracic spine E. CT of the lumbar spine
B. X-ray of the sacro-iliac joints
Inflammatory markers (ESR, CRP) are typically raised although normal levels do not exclude ankylosing spondylitis.
HLA-B27 is of little use in making the diagnosis as it is positive in:
90% of patients with ankylosing spondylitis
10% of normal patients
Plain x-ray of the sacroiliac joints is the most useful investigation in establishing the diagnosis. Radiographs may be normal early in disease, later changes include:
sacroiliitis: subchondral erosions, sclerosis
squaring of lumbar vertebrae
‘bamboo spine’ (late & uncommon)
syndesmophytes: due to ossification of outer fibers of annulus fibrosus
chest x-ray: apical fibrosis
If the x-ray is negative for sacroiliac joint involvement in ankylosing spondylitis but suspicion for AS remains high, the next step in the evaluation should be obtaining an MRI. Signs of early inflammation involving sacroiliac joints (bone marrow oedema) confirm the diagnosis of AS and prompt further treatment.
Spirometry may show a restrictive defect due to a combination of pulmonary fibrosis, kyphosis and ankylosis of the costovertebral joints.
You see a 70-year-old male patient with back pain. He says he has had lower back pain for about 12 months which is slowly getting worse. It now radiates to his buttocks, thighs and legs bilaterally (but his left leg is worse than the right). He describes the pain as ‘cramping’ and ‘burning’. He says that when he walks for more than a few minutes his legs become weak and numb. If he sits down and leans forward the symptoms go. He finds standing exacerbates the symptoms. He is worried as he is losing his independence as he does not feel stable on his feet, he now has a walking aid. His wife thinks he has a more stooped posture than 12 months ago.
His past medical history includes tablet controlled hypertension. He has never smoked and has a normal BMI.
On examination, he has a wide-based gate. Neurological examination of his lower limbs is normal. His peripheral pulses feel normal.
What diagnosis is most likely given the presentation and examination findings?
A. Ankylosing spondylitis B. Spinal stenosis C. Sciatica D. Vascular claudication E. Non-specific lower back pain
B. Spinal stenosis
Spinal stenosis is the most likely diagnosis in a patient with gradual onset leg and back pain, weakness and numbness which is brought on by walking (with a normal clinical examination)
This man’s presentation is most consistent with a diagnosis of spinal stenosis. Spinal stenosis typically presents with gradual onset leg and back pain, weakness and numbness which is brought on by walking. Patients often say that the pain is relieved by sitting and leaning forward and is better if walking up a hill. Physical examination findings are frequently normal in patients with lumbar spinal stenosis. Therefore, the correct answer is 2.
The main differential diagnosis is vascular claudication but he has normal pulses peripherally. Therefore, option 4 is wrong.
Sciatica is more likely to present with unilateral leg pain. Therefore, option 3 is incorrect.
Non-specific lower back pain is common but does not present with lower limb symptoms. Therefore, option 5 is wrong.
Which one of the following statements regarding raloxifene in the management of osteoporosis is incorrect?
A. Has been shown to prevent bone loss and to reduce the risk of vertebral fractures
B. Is a selective oestrogen receptor modulator
C. May worsen menopausal symptoms
D. Increases risk of thromboembolic events
E. Increases the risk of breast cancer
E - increase the risk of breast cancer
Raloxifene may actually decrease the risk of breast cancer
A 57-year-old woman has presented to the hospital with a six-hour history of intermittent retrosternal chest pain radiating into the shoulder and jaw with associated diaphoresis, dyspnoea, and dizziness.
She has a past medical history of Crohn’s disease and takes azathioprine 150mg daily. She was previously started on sulfasalazine but developed facial swelling.
ECG shows normal sinus rhythm at 78 bpm but demonstrates 3mm of ST depression in leads II, III, and aVF.
A diagnosis of an inferior non-ST elevation myocardial infarction is made.
Which medication should be avoided? A. Aspirin B. Bisoprolol C. Clopidogrel D. Ramipril E. Ticagrelor
A - aspirin
Patients who are allergic to aspirin may also react to sulfasalazine
A 55-year-old right-handed male cleaner presents with elbow pain. He describes a gradual onset of pain in his right elbow over a period of six weeks with only mild relief from paracetamol. The patient plays golf and exercises at the gym weekly. He does remember a fall at work six weeks ago where he fell onto his left elbow. The patient feels systemically well and denies any pyrexia. On examination, the patient describes tenderness over the right elbow with resisted wrist extension/ supination and the elbow held in extension. There is no significant swelling over the olecranon.
What is the most likely cause of this man’s elbow pain?
A. Lateral epicondylitis B. Medial epicondylitis C. Olecranon bursitis D. Radial head fracture E. Septic arthritis
A - lateral epicondylitis
Lateral epicondylitis: worse on resisted wrist extension/suppination whilst elbow extended
The most likely answer here is lateral epicondylitis. Lateral epicondylitis or ‘tennis elbow’ presents with gradual onset pain around the lateral epicondyle of the humerus radiating to the forearm. This patient’s job is a cleaner, therefore undertaking repetitive movements with his dominant hand increases the chance of lateral epicondylitis.
Medial epicondylitis or ‘golfer’s elbow’ presents with pain around the medial epicondyle. Pain is elicited during wrist flexion and pronation and does not match the examination findings in the scenario.
Olecranon bursitis presents with swelling and erythema over the olecranon, this patient does not have this as outlined in the question.
Radial head fractures present with immediate pain and swelling, the patient in this case presented with gradual onset pain; making a fracture a less likely differential in this patient.
As this patient is systemically well, septic arthritis is unlikely. Also, the affected joint will appear red, painful and swollen.
A 38-year-old woman is reviewed. She has a diagnosis of rheumatoid arthritis. She has recently been switched from methotrexate to leflunomide. Monitoring of the full blood count and liver function tests has been arranged. What else should be monitored during treatment?
A. Peak expiratory flow rate B. Blood pressure C. QT interval on ECG D. Blood glucose E. Urine for microscopic haematuria
Leflunomide may cause hypertension
B
A 60-year-old woman who has recently started treatment for polymyalgia rheumatica presents with a five day history of headaches and reduced vision on the right side since this morning There is no eye pain but the there is a ‘large, dark shadow’ covering the superior visual field on the right side. On examination she has a tender, palpable right temporal artery. What is the most likely explanation for the reduced vision?
Anterior ischemic optic neuropathy Central retinal vein occlusion Optic neuritis Ophthalmic arteritis Central retinal artery occlusion
Anterior ischemic optic neuropathy
Which one of the following best describes rheumatoid factor?
IgG against the Fc portion of IgM IgM against the Fc portion of IgA IgM against the Fc portion of IgM IgM against the Fc portion of IgG IgG against the Fc portion of IgA
IgM against the Fc portion of IgG
Which one of the following cytokines is the most important in the pathophysiology of rheumatoid arthritis?
IFN-beta IFN-alpha IL-4 Tumour necrosis factor IL-2
Rheumatoid arthritis - TNF is key in pathophysiology
This young man presented with the sign and symptoms of an aortic dissection. Aortic dissection occurs when the there is a tear in the inner wall of the aorta, the intima, leading to an accumulation of blood within the wall of the blood vessel (false lumen as opposed to the true lumen of the aorta). This can occur due to high stress on the aortic wall (chronic uncontrolled hypertension) or a weakening of the aortic wall. This man does not have a history of hypertension but he has signs of a genetically inherited condition strongly associated with aortic dissection. He also has an uncle who died young of a heart complication which could be an aortic dissection due to Marfan syndrome. This condition is known as Marfan syndrome and is inherited in an autosomal dominant pattern.
1: This occurs due to normal aging and is responsible for the appearance of wrinkles and the decreased elasticity of the skin in the elderly population.
2: This is the mechanism via which vitamin C deficiency leads to scurvy.
3: In Marfan syndrome, there is a defection of the glycoprotein fibrillin which normally envelopes elastin and as a result individuals with the condition has a range of signs symptoms such as joint hypermobility, chest deformities and long toes and finger amongst others.
4: This is usually seen in a genetically inherited condition called Menkes disease. The condition is inherited in an X-linked recessive pattern and involves an accumulation of copper in some body tissues.
5: This is characteristic of alpha-1-antitrypsin deficiency whereby there is a deficiency of the enzyme alpha-1-antitrypsin which normally functions to inhibit elastase. The excessive degradation of collagen leads to pan-acinar emphysema and liver impairment.
Decrease in the production of collagen
Impaired hydroxylation of lysine and proline amino acids on collagen
A defect of the glycoprotein structure which usually wraps around elastin
Copper deficiency affecting the normal function of lysyl oxidase enzyme
Overactive elastase enzyme leading to an excessive breakdown of collagen
A defect of the glycoprotein structure which usually wraps around elastin
Decrease in the production of collagen
Impaired hydroxylation of lysine and proline amino acids on collagen
A defect of the glycoprotein structure which usually wraps around elastin
Copper deficiency affecting the normal function of lysyl oxidase enzyme
Overactive elastase enzyme leading to an excessive breakdown of collagen
A defect of the glycoprotein structure which usually wraps around elastin
A 45-year-old is referred to the clinic due to recurrent, progressive episodes of illness, affecting different sites of her body. She reports that the episodes can result in pain in several areas including the nose, eyes, ears and joints. No clear diagnosis has been established despite several specialists’ input.
She currently feels her symptoms are ‘flaring’ and describes pain around the ears, nose, large joint with associated breathlessness and a mild cough. On exam, there is redness and swelling of the ears and a collapse of the nasal bridge. A mild wheeze is heard on the chest.
On review of her notes, she has had previous episodes of scleritis/iritis and is under investigation for hearing loss.
What is the most likely diagnosis?
Anti-glomerular basement membrane disease (Goodpasture syndrome)
Eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome)
Granulomatosis with polyangiitis (Wegener’s granulomatosis)
Reactive arthritis
Relapsing polychondritis
Relapsing polychondritis
This patient has presented with features most in keeping with the autoimmune condition of relapsing polychondritis. This is a multi-system condition associated with repeat episodes of cartilage inflammation and deterioration. Common examples of areas affected, and therefore symptoms patients present with, include the ears (auricular chondritis, vertigo, hearing loss), the nose (saddle nose deformity), the respiratory tract (wheezing, inspiratory stridor, voice changes), the eyes (episcleritis, scleritis, iritis,) and the joints (arthralgia). Although there are several conditions that present with similar features, the involvement of the ears and nose in a multi-system disease is characteristic of relapsing polychondritis. Given its multi-organ involvement, various scoring systems have been created, based on clinical, pathological, and radiological criteria, to assist make the diagnosis.
A 45-year-old man who is known to have Marfan’s syndrome presents with lower back pain. This has been present for a few months now and is associated with headaches, leg pain and intermittent episodes of urinary incontinence. What is the most likely diagnosis?
Depression Spinal stenosis Leaking aortic abdominal aneurysm Multiple sclerosis Dural ectasia
Marfan’s syndrome - dural ectasia
Dural ectasia affects around 60% of patients with Marfan’s syndrome. It may cause lower back pain associated with neurological problems such as bladder and bowel dysfunction.
A 24-year-old man reports a 1-year history of increasing low back pain. He reports that the symptoms are usually worse after being sedentary. There is also stiffness in this area that can last up to 30 minutes in the morning. He is normally a keen footballer and gym-goer and finds that both of these actually improve his pain levels. However, he has been increasingly troubled by pain in his right Achilles tendon which has limited his activity levels.
His GP has referred him to a rheumatologist and has arranged lumbar spine and sacroiliac joint x-rays in the meantime.
Which of these collection of findings are most likely to be seen?
A. Block vertebra and excessive lumbar lordosis
B. Joint space narrowing, osteophytes and subchondral cysts
C. Marginal erosions, soft tissue swelling and periarticular osteoporosis
D. Soft tissue swelling, punched-out bone lesions and overhanging sclerotic margins
E. Subchondral erosions, sclerosis and squaring of vertebrae
E. Subchondral erosions, sclerosis and squaring of vertebrae
This man has typical features of ankylosing spondylitis: low back pain which is worse at rest and improves on activity, early morning stiffness exceeding 15 minutes in duration, and associated Achilles tendinopathy (enthesitis). Onset is most common in males between 20-30 years of age. Plain radiography commonly shows subchondral erosions and sclerosis affecting the sacroiliac joints (sacroiliitis). In the lumbar spine, abnormalities such as vertebral body squaring, ligament calcification and syndesmophytes may be seen, eventually leading to the formation of a ‘bamboo spine’.
A 50-year-old man with no past medical history is investigated for ongoing back pain. He is found to have a vertebral collapse secondary to osteoporosis. What is the most appropriate test to determine the cause of his osteoporosis?
Thyroid function tests Prostate specific antigen Oestrogen level Prolactin level Testosterone level
Osteoporosis in a man - check testosterone
Low levels of which one of the following types of complement are associated with the development of systemic lupus erythematous?
C4 C5 C6 C7 C8
SLE: complement levels are usually low during active disease - may be used to monitor flares
Low levels of C4a and C4b have been shown to be associated with an increased risk of developing systemic lupus erythematous
A 43-year-old Chinese man is reviewed after describing painful paraesthesia affecting the palmar aspect of his right hand. He also reports occasional blood when passing urine. His past medical history is significant for chronic hepatitis B infection, for which he takes lamivudine.
On examination, he reports numbness and tenderness in the distribution of the ulnar nerve on the right hand side. He also has a patch of anaesthesia over the dorsum of his left foot.
His blood test results are shown below:
Hb 132 g/L Male: (135-180) Female: (115 - 160) Platelets 398 * 109/L (150 - 400) WBC 9.6 * 109/L (4.0 - 11.0) Na+ 136 mmol/L (135 - 145) K+ 4.8 mmol/L (3.5 - 5.0) Urea 13.5 mmol/L (2.0 - 7.0) Creatinine 168 µmol/L (55 - 120) CRP 35 mg/L (< 5)
What is the most likely diagnosis?
Polyarteritis nodosa Takayasu's arteritis Microscopic polyangiitis Granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis
Polyarteritis nodosa can cause a mononeuritis multiplex syndrome
This patient has a number of features of vasculitis, including haematuria with renal impairment, and a mildly raised CRP. The specific diagnosis of polyarteritis nodosa (PAN), a medium vessel vasculitis, is clinched by the presence of mononeuritis multiplex i.e. peripheral neuropathy affecting two or more non-contiguous nerve trunks, as well as hepatitis B infection, which is significantly associated with PAN.
A 40-year-old man presents with pain in his lower back and ‘sciatica’ for the past three days. He describes bending down to pick up a washing machine when he felt ‘something go’. He now has severe pain radiating from his back down the right leg. On examination he describes paraesthesia over the anterior aspect of the right knee and the medial aspect of his calf. Power is intact and the right knee reflex is diminished. The femoral stretch test is positive on the right side. Which nerve root is most likely to be affected?
Common peroneal nerve Lateral cutaneous nerve of the thigh L5 L3 L4
L4
A 50-year-old man presented with gradual onset low backache for 2-years. There was no history of any chronic illness or alcoholism. His clinical examination revealed lumbar spine tenderness with a soft and non-tender abdomen.
A bone scan revealed the presence of intense abnormal activity within the skull, lower thoracic and lumbar vertebrae as well as his pelvic bones. Biopsy performed of the L3 vertebra demonstrated trabeculae of cortical and cancellous bone with fibrotic marrow.
Given the likely diagnosis, which of the following would be elevated?
Urinary coproporphyrin Urinary delta-aminolevulinic acid Urinary hydroxyproline Urinary porphobilinogen Urinary uroporphyrin
Paget’s disease - increased serum and urine levels of hydroxyproline
Which one of the following drugs has been associated with an increased risk of atypical stress fractures of the proximal femoral shaft?
Spironolactone Alendronate Quetiapine Venlafaxine Clopidogrel
Alendronate
Bisphosphonates are associated with an increased risk of atypical stress fractures
A 27-year-old woman is referred to orthopaedics. Three years ago she had chemotherapy for non-Hodgkin’s lymphoma. Follow up scans to date have shown no evidence of any disease recurrence. For the past two months, she has been experiencing gradually increasing pain in her right hip which is worse on exercising. On examination, passive movement of the hip is painful in all directions, especially internal rotation. An x-ray ordered by her GP has been reported as normal.
What is the most likely diagnosis?
Trochanteric bursitis Avascular necrosis of the femoral head Primary hyperparathyroidism Metastatic deposits Hypoparathyroidism
Previous chemotherapy is a significant risk factor for avascular necrosis
Initial x-rays are often normal in patients with avascular necrosis, but it would be unlikely
A 43-year-old who is noted to have a high-arched palate, arachnodactyly and a late-systolic murmur presents with visual problems. Which one of the following eye disorders is most associated with his underlying condition?
Superotemporal ectopia lentis Inferonasal ectopia lentis Retinitis pigmentosa Acute glaucoma Retinal detachment
Superotemporal ectopia lentis
Marfan’s syndrome - upwards lens dislocation
54-year-old female is reviewed in the rheumatology clinic due to dry eyes and arthralgia. A diagnosis of primary Sjogren’s syndrome is suspected. Which one of the following features is least associated with this condition?
Renal tubular acidosis Xerostomia Sensory polyneuropathy Dilated cardiomyopathy Raynaud's phenomenon
Dilated cardiomyopathy
A 55-year-old woman presents with a four week history of shoulder pain. There has been no obvious precipitating injury and no previous experience. The pain is worse on movement and there is a grating sensation if she moves the arm too quickly. She also gets pain at night, particularly when she lies on the affected shoulder. On examination there is no obvious erythema or swelling. Passive abduction is painful between between 60 and 120 degrees. She is unable to abduct the arm herself past 70-80 degrees. Flexion and extension are preserved. What is the most likely diagnosis?
Adhesive capsulitis (frozen shoulder) Supraspinatus tendonitis Acromioclavicular joint injury Glenohumeral arthritis Superior labral lesion
Supraspinatus tendonitis
A 26-year-old renal transplant recipient secondary to polycystic kidney disease enters the follow-up clinic. She has been started on multiple immunosuppressant agents including mycophenolate mofetil.
What is the mechanism of action of this drug?
HMG-CoA reductase inhibitor Calcineurin inhibitor Protease inhibitor Inosine-5'-monophosphate dehydrogenase inhibitor Ribonucleotide reductase inhibitor
Mycophenolate mofetil inhibits of inosine-5’-monophosphate dehydrogenase which is needed for purine synthesis
Mycophenolate mofetil (MMF) reduces lymphocyte production through inhibition of iosine-5’-monophosphate dehydrogenase. It is typically used in organ transplantation and autoimmune conditions. Both MMF and azathioprine inhibit purine synthesis but through different mechanisms.
Calcineurin inhibitors (tacrolimus and ciclosporin) are immunosuppressants which work through reducing t-cell differentiation.
Protease inhibitors such as ritonavir and darunavir are antivirals used against HIV and hepatitis.
Statins are examples of HMG-CoA reductase inhibitors. They work by reducing LDL cholesterol.
Hydroxycarbamide is an example of a ribonucleotide reductase inhibitor which decreases the production of deoxyribonucleotides reducing DNA synthesis. It is used to treat cancers.
Looser’s zones x-ray are most characteristically associated with which one of the following conditions?
Primary hyperparathyroidism Hypoparathyroidism Osteomalacia Paget's disease Osteoporosis
Osteomalacia
Which of the following is associated with a good prognosis in rheumatoid arthritis?
Rheumatoid factor negative HLA DR4 Anti-CCP antibodies Rheumatoid nodules Insidious onset
Rheumatoid factor negative
A 45-year-old woman is seen in the rheumatology clinic with a 2-month history of joint pain. She has pain in her wrists and fingers bilaterally, which is worse in the morning and improves throughout the day. She is an artist by trade and finds it increasingly difficult to hold a paintbrush and have the same dexterity due to her fingers’ pain and swelling. She has no past medical history.
On examination, she has tender wrist joints. Her range of motion is limited due to pain and stiffness. Her entire fingers are swollen and painful, particularly over the distal interphalangeal joints with a reduced range of movement. There are no visible nodules, skin or nail changes.
What is the most likely diagnosis?
CREST syndrome Osteoarthritis Psoriatic arthritis Raynauds phenomenon Rheumatoid arthritis
Dactylitis + DIP involvement = psoriatic arthritis
A 41-year-old woman is reviewed in the oncology clinic, following a recent diagnosis of ER-positive, HER2-negative breast cancer, for which she is receiving adjuvant treatment with tamoxifen. She reports that she has been feeling increasingly tired and weak recently.
On examination, there is a new, reddish-purple rash surrounding her eyelids. She also reveals symmetrical, violaceous papules over the dorsal aspect of her proximal and distal interphalangeal joints.
Which of the following auto-antibodies is most likely to be positive in this patient?
Anti-Mi-2 antibodies c-ANCA (c-antineutrophil cytoplasmic antibodies Anti-Yo antibodies Anti-nuclear antibodies (ANA) Rheumatoid factor
ANA
Dermatomyositis antibodies: ANA most common, anti-Mi-2 most specific
This patient has a diagnosis of dermatomyositis - a paraneoplastic condition seen in the context of a range of solid and haematological malignancies, including breast cancer. This diagnosis is supported by the classic description of the ‘heliotrope’ rash around her eyelids, as well as Gottron’s papules. Although the presence of fatigue and weakness is non-specific in patients with cancer, in this instance, it points towards the myopathic element of her condition. The most common antibodies found in patients with dermatomyositis are anti-nuclear antibodies, which are seen in 60% of patients.
A 17-year-old male presents to General Practice with recurrent cramping in his arms during a rowing training session. On closer questioning, he has noticed a reduction in his exercise tolerance recently. He reports getting a ‘second wind’ phenomenon after minutes of rest.
On examination, he is well with no apparent deficit.
Bloods reveal:
Hb 142 g/l Platelets 204 * 109/l WBC 6.7 * 109/l Na+ 139 mmol/l K+ 4.2 mmol/l Urea 8.9 mmol/l Creatinine 148 µmol/l Adjusted calcium 2.23 mmol/L Creatine kinase 1037 IU/L Autoimmune profile pending
What is the most likely underlying diagnosis? Polymyositis Dermatomyositis Von Gierke's disease McArdle's disease Pompe's disease
McArdle’s disease is characteristically associated with a ‘second-wind’ phenomenon and present with distal muscle cramping in this demographic following exercise.
Polymyositis and dermatomyositis would, typically but not always, cause a more marked increase in creatine kinase which can be up to 100 times the upper limit of normal.
Von Gierke patients present with manifestations related to hypoglycemia around three to four months of age. Pompe’s disease tends to also present in infants but with cardiomyopathy and severe, generalised muscular hypotonia.
A 65-year-old man with a history of type 2 diabetes mellitus and peripheral arterial disease is investigated for fatigue and pyrexia of unknown origin. He recently had an amputation of a toe on his left foot. A diagnosis of osteomyelitis is suspected in the left foot. What is the most appropriate investigation?
MRI Plain x-ray Positron emission tomographic (PET) scan Bone biopsy CT scan
Osteomyelitis: MRI is the imaging modality of choice
A 2-year-old girl is brought to her paediatrician. The mother complains that she noticed her daughter has been having repeated ear infections despite repetitive oral antibiotic treatment courses. The mother is very concerned and also thinks that her daughter has not been putting much weight recently. The mother is also worried that the condition might affect her child’s hearing and subsequent development. Upon examination, the paediatrician finds a scaly and erythematous rash on the girl’s scalp.
The paediatrician decides to get an X-ray of the skull which shows lytic bone lesions. The girl was born via spontaneous vaginal delivery and has been well previously. The doctor later explains to her junior colleague that electron microscopy of the skin lesions in this condition typically shows tennis racket-shaped granules.
What is the most likely diagnosis?
Recurrent otitis media Osteopetrosis Paget disease of the bone Langerhans cell histiocytosis Sarcoidosis
Langerhans cell histiocytosis is characterized by Birbeck granules on electron microscopy