section name header

Pathophys and Cause ⬇

Cause:Autosomal recessive

Pathophys:Defective osteoclastic function causes thick bones and nerve compression plus marrow obliteration

Signs and Symptoms ⬆ ⬇

Si + Sx:Blindness, deafness, facial palsies, anemia, bleeding

Lab and Xray ⬆ ⬇

Xray:DEXA scan accurate, useful in kids (Ped Endocr Rv 2005;2 [suppl 3]:337)

Treatment ⬆

Rx:

Marrow transplant; perhaps calcitriol (Nejm 1984;310:409)