white cell count6.0 ?

A 55-year-old dental nurse was referred for bone densitometry after sustaining a non-displaced fracture of the femur after falling down a step. She had experienced no other fractures. Her only medical problem was long-standing anaemia of unknown cause. The only family history was of persistent dental abscesses affecting her father. She had three children who were well. She was taking no medication.

Examination was normal.

Investigations:

haemoglobin102 g/L (115C165)

MCV85 fL (80C96)

white cell count6.0 ? 109/L (4.0C11.0)

platelet count245 ? 109/L (150C400)

erythrocyte sedimentation rate25 mm/1st h (<30)

serum creatinine85 µmol/L (60C110)

serum corrected calcium2.40 mmol/L (2.20C2.60)

serum alkaline phosphatase56 U/L (45C105)

DXA scan spine (L2CL4)T score +5.8

DXA scan total hipT score +5.4

What is the most likely diagnosis?
A . fluorosis
B . high bone mass phenotype
C . myelodysplasia
D . osteopetrosis
E . Paget’s disease

View Answer

Answer: D