Malignant infantile osteopetrosis

Malignant infantile osteopetrosis
Other names	Infantile autosomal recessive osteopetrosis, Infantile osteopetrosis
Child with osteopetrosis

Malignant infantile osteopetrosis is a rare osteosclerosing type of skeletal dysplasia that typically presents in infancy and is characterized by a unique radiographic appearance of generalized hyperostosis (excessive growth of bone).

The generalized increase in bone density has a special predilection to involve the medullary portion with relative sparing of the cortices.^[1] Obliteration of bone marrow spaces and subsequent depression of the cellular function can result in serious hematologic complications. Optic atrophy and cranial nerve damage secondary to bony expansion can result in marked morbidity. The prognosis is extremely poor in untreated cases.^[2] Plain radiography provides the key information to the diagnosis. Clinical and radiologic correlations are also fundamental to the diagnostic process, with additional gene testing being confirmatory.