BMJ Cases Flashcards
A 25-year-old gravida 3 para 3 female presents with a history of fatigue, ice craving, and dyspnoea upon exertion. She was unable to tolerate her antenatal vitamins during pregnancy, because of nausea. Examination reveals pallor and spooning of her nails. Vital signs are normal. There is no lymphadenopathy or hepatosplenomegaly.
iron defic anaemia
A 1-year-old boy presents with sudden-onset fever and vomiting. Findings include irritability, tachycardia, pallor, cold extremities, diffuse skin rash with abdominal petechiae, and signs of meningeal irritation. Blood tests show leukocytosis, markedly decreased platelet count, increased PT/PTT, decreased fibrinogen, elevated fibrin degradation products, elevated urea, and metabolic acidosis. Gram-negative cocci were found in CSF and meningococci confirmed. Protein C activity is reduced.
DIC
A 6-month-old boy with no previous medical problems presents with fever and painful swelling of the hands and feet. His parents are concerned because he has been inconsolable for 6 hours. The infant has been refusing bottles and has needed fewer nappy changes over the last 2 days.
sickle cell anaemia
A 57-year-old man is evaluated for progressive arthralgias. There is swelling and tenderness over the first, second, and third metacarpophalangeal joints of both hands. Findings on hand radiographs are suggestive of calcium pyrophosphate deposition, raising concern for haemochromatosis. Iron studies are obtained, showing a transferrin saturation of 88% and serum ferritin of nearly 2700 picomols/L (1200 nanograms/mL). HFE genotyping confirms that he is a C282Y homozygote.
haemochromatosis
A 24-year-old woman with known sickle cell disease presents with a 3-day history of cough productive of white sputum, nausea, and poor appetite. She also has chest and hip pain unalleviated by paracetamol or ibuprofen.
sickle cell anaemia
A 4-year-old boy presents with a 7-day history of abdominal pain and watery diarrhoea that became bloody after the first day. Three days before the onset of symptoms, he had visited a fairground with his family and had eaten a burger. Physical examination reveals a mild anaemia.
haemolytic uraemic syndrome
A 52-year-old woman with a history of rheumatoid arthritis reports gradual worsening of symptoms over the past 2 months with fatigue, malaise, and increased stiffness of the wrists and joints of the hands. Physical examination is significant for warmth, tenderness, and synovial thickening in wrists, metacarpophalangeal joints, and proximal interphalangeal joints bilaterally. She takes non-steroidal anti-inflammatory drugs as needed. The haemogram shows a drop in haemoglobin from 123 g/L to 96 g/L (12.3 g/L to 9.6 g/dL) over the last 3 months and an mean corpuscular volume of 77 fL.
anaemia of chronic disease
An 18-month-old boy presents with left ankle swelling and pain. He has limited range of motion at the ankle and has difficulty walking. Over the last year, he has presented with significant haematomas at immunisation sites. He also had prolonged bleeding after heel prick for neonatal screening tests.
haemophilia
A 68-year-old man presents with fatigue and dark stools. On examination his vital signs are normal but he is pale and has a rectal mass. Later biopsy of the rectal mass reveals adenocarcinoma.
iron defic anaemia
A 45-year-old man with acute onset of pancreatitis presents with episodes of epistaxis, increased PT/PTT, and decreased platelet count. Further coagulation work-up reveals increased thrombin time, decreased fibrinogen level, positive D-dimers, and increased fibrin degradation products. The blood culture is negative.
DIC
A 20-year-old black woman presents to her primary care physician complaining of generalised weakness, fevers, and light-headedness for 2 weeks. Her symptoms have worsened over the previous week, when she developed left lower chest pain and left upper quadrant abdominal pain. A urinalysis was obtained, and she was treated for a UTI. She returns to her primary care physician when symptoms continue to worsen.
haemolytic anaemia
A 50-year-old man with a history of obesity and heavy alcohol use presents with a 2-month history of weakness, jaundice, and ascites. He is found to be a C282Y homozygote after laboratory testing shows a transferrin saturation of 76% and ferritin of 11,000 picomols/L (5000 nanograms/mL).
Imaging studies demonstrate a cirrhotic-appearing liver with an ill-defined mass in the right lobe and multiple pulmonary nodules suspicious for metastases. Hepatic iron overload with metastatic hepatocellular carcinoma is confirmed at autopsy.
haemochromatosis
A 72-year-old man, previously healthy, presents with fever, chills, cough, and shortness of breath. Chest x-ray shows a right-middle-lobe infiltrate. He is diagnosed with pneumonia and admitted for intravenous antibiotics.
Blood cultures eventually grow Streptococcus pneumoniae . By hospital day 3, he is afebrile, but his haemoglobin is 105 g/L (10.5 g/dL), down from 124 g/L (12.4 g/dL) on admission, and 135 g/L (13.5 g/dL) 1 month ago. He has no evidence of gastrointestinal blood loss or overt haemolysis. Red cell indices reveal a normocytic normochromic anaemia.
aneamia of chronic disease
A 40-year-old overweight black woman presents with a 1- to 2-week prodrome of fatigue and malaise with diarrhoea and vomiting. Examination is normal except for slight confusion and petechiae on her lower extremities. Laboratory studies show a haematocrit of 25% and a platelet count of 10 x 10^9/L (10,000/microlitre). Lactate dehydrogenase is raised. Serum creatinine is 97.2 micromol/L (1.1 mg/dL). Peripheral smear shows fragmented RBCs (schistocytes) and an raised reticulocyte count.
thrombocytopaenia purpura
A 38-year-old man presents to his primary care physician complaining of generalised weakness, epistaxis, mouth ulcers, and weight loss. He has unremarkable past medical history and takes no medications. Physical examination reveals mild pallor and petechial haemorrhages over his lower limbs. He has multiple, widespread small lymph nodes that are palpable, and mild splenomegaly.
case 2;
A 4-year-old girl presents with lethargy, dyspnoea, fever, and bruising. On examination she has hepatosplenomegaly. Chest x-ray shows a mediastinal mass and pleural effusion.
ALL
Acute lymphocytic leukaemia
