Neuroradiology

Osteopetrosis

abnormally dense bone, due to defective absorption of bone during the growth period. Cranial and vertebral osteopetrosis manifest characteristic radiological appearances such as "bone within bone" in the spine, and a radiodense skull with base deformities.

There are four different types of this bone dysplasia characterized by increased bone density:

the precocious type, inherited as an autosomal recessive trait is usually lethal;

the delayed type is an autosomal dominant variety, also known as Albers Schonberg disease;

an intermediate recessive type represents a milder form of osteopetrosis; and

the fourth type (also termed marble brain or Sly's disease). It is an autosomal recessive disorder consisting of osteopetrosis, renal tubular acidosis and cerebral calcifications. Also, see osteopetrosis.

GS