Case Author(s): Scott Winner, M.D. and Tom R. Miller, M.D., Ph.D. , 01/10/97 . Rating: #D3, #Q5

Diagnosis: Multiple fractures

Brief history:

54-year old woman with left-sided chest wall pain

Images:

Anterior and posterior whole body images

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Full history/Diagnosis is available below


Diagnosis: Multiple fractures

Full history:

54-year old woman with hypophosphatasia, now with left-sided chest wall pain.

Radiopharmaceutical:

21.4 mCi Tc-99m MDP i.v.

Findings:

There are multiple foci of abnormal tracer accumulation consistent with fractures.

Discussion:

The severe congenital form of hypophosphatasia is recognizable at birth with a "boneless" skull, severe deformities and shortness of the limbs. The infantile form shows symptoms after the first few months of life with failure to thrive, wide cranial sutures and angulation of the limbs. The childhood form shows delayed onset of walking, myopathy, dental caries and premature loss of deciduous teeth. The adult form presents with bone pain, osteoporosis, and a tendency to fracture.

Followup:

None

Major teaching point(s):

None

Differential Diagnosis List

Metastatic disease

ACR Codes and Keywords:

References and General Discussion of Bone Scintigraphy (Anatomic field:Skeletal System, Category:Metabolic, endocrine, toxic)

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Case number: bs070

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