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Table 1 Case analysis section of the questionnaire

From: Effects of continuing medical education on emergency trainees’ rare disease knowledge and attitude: a single-center study

Case

Case information

Possible diagnosis

Further supporting examinations

Major differential diagnosis

Case 1

A young woman with recurrent hyponatremia, epigastric pain, urination, and constipation whose abdominal CT scan showed no clear organic lesions, and the symptoms were related to the menstrual cycle.

Acute porphyria with syndrome of inappropriate antidiuretic hormone

Uroporphyrinogen and uroporphyrin

Lead poisoning

Case 2

A middle-aged woman with hardening and darkening of the skin, limited mouth opening, malignant hypertension, and acute kidney injury.

Systemic sclerosis with renal crisis

SCL-70

Vasculitis and systemic lupus erythematosus

Case 3

A woman after an abortion with abdominal pain, vaginal bleeding, decreased platelet and haemoglobin levels, progressive elevation of blood creatine, and fragmented red blood cells on the peripheral blood smear.

Atypical haemolytic uraemic syndrome

ADAMTS13 activity and antibodies

Thrombotic thrombocytopenic purpura

Case 4

An elderly man with a history of sarcoma-like carcinoma who had sudden limb convulsions and loss of consciousness, with a head MRI showing multiple white matter hyperintensities in the bilateral basal ganglia and hemioval centre. The results of the lumbar puncture showed that the number of white blood cells and protein content of the cerebrospinal fluid were elevated.

Autoimmune encephalitis

Blood and cerebrospinal fluid anti-neuroantigen antibody testing

Paraneoplastic syndrome