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Answers on p 284.
A 28 year old woman presented with complaints of severe myalgias, muscle cramps and fatigue, of two weeks' duration. There was a history of pain and difficulty in rising from a squatting position and climbing up stairs. These symptoms, initially mild, had become exacerbated after the patient started cycling, which was advised by her physician because of her weight gain over the preceding one year. There was no history of any muscle wasting, fasciculations, or any sensory involvement.
The patient had gained about 12 kg in weight over the last year. There was no history of any orbital puffiness, oedema, hoarseness of voice, constipation, heat or cold intolerance, menstrual irregularities, urinary complaints, or drug intake. There were no other bone or joint related complaints, fever, alopecia, rash, photosensitivity, or Raynaud's phenomena.
Examination revealed an obese young women (weight = 75 kg) with a pulse of 58 beats/min, regular, blood pressure 130/80 mm Hg, and pedal oedema. The chest, cardiovascular, and abdominal examinations were unremarkable. Muscle testing revealed a proximal muscle weakness (muscle power 3+/5) limited to the pelvic girdle. There was diffuse tenderness over all the muscle groups of both the lower limbs. The deep tendon reflexes at the ankles were sluggish bilaterally. The rest of the neurological evaluation was normal.
Special laboratory investigations (normal laboratory range in parentheses)
Thyroid stimulating hormone (TSH): 25 mU/l (0.3–7.0)
Total triiodothyronine: 0.55 nmol/l (1.1–3.0)
Total thyroxine: 13.5 nmol/l (51.5–167.3)
Antimicrosomal antibody: 1:1602 (positive) (antithyroid peroxidase (TPO) antibodies: <1:102)
Antithyroglobulin antibody positive
Lupus erythematosus cell, antinuclear antibody, rheumatoid factor, Venereal Disease Research Laboratory negative
- What is the provisional diagnosis and how will you confirm it?
- What are the causes of this condition?
- What is the most probable aetiology in this patient and what further investigations would you order to document it?
- The special laboratory investigations of the patient are summarised in the box. What is the final diagnosis?