OSTEOPETROSIS

CLASSIFICATION

• AD = Benign, tarda or adult form. Compatible with a normal life.
• AR = Malignant congenita or infantile form. Usually die in childhood.
• Extramedullary erythropoiesis.
• Hepatosplenomegaly.
• Leuco-erythroblastic anemia.
• Narrow cranial foramina which leads to optic atrophy and cranial nerve palsy.
• 2 types
• "Intermediate" type resembling AD form.
• Other type associated with renal tubular acidosis and cerebral classification (deficiency of carbonic anhydrase ll)
• Pathology - Failure of bone resorption.

ULTRASOUND

• Rarely diagnosed antenatally.
• Sclerotic bones (skull and long bones)
• Fractures in utero.
• Hydrocephalus.
• Arrest in normal development (probably related to ischemia and major neuronal loss of cortex).
• Focal calcifications.
• Cerebellar hypoplasia.

REFERENCES

1. El Khazen N, Faverly D, Vamos E et.al. Lethal Osteopetrosis with Multiple Fractures in utero. Am J Med Genetics 1986, 23: 811-819.
2. Camera G, Centa A, Zucchinetti P et.al. Osteopetrosi: Descrizione Di Due Casi,Non Famigliari, Del La Forma Infantile Letale E Di Un Caso Della Forma Media Dell'Adulto. Impossibilita Di Effettuare Diagnosi Prenatale Le Precoce. Pathologica 1989, 81: 617-626.