Malignant Infantile Osteopetrosis: A Case Report

Abstract

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Malignant infantile osteopetrosis with rickets presenting with bicytopenia in septic shock: case report

“…MIOP is the autosomal recessively inherited form which begins in utero, presenting at birth or within the first year of life, with incidence of 1 in 250000 births. 1 The increase in bone mass leads to phenotypic features such as macrocephaly and frontal bossing. Tooth eruption and longitudinal growth of bones is impaired with a short stature and predisposition to fractures and osteomyelitis.…”

“…Hematopoietic stem cell transplantation (HSCT) offers the only chance of cure for MIOP; it should be performed early before the irreversible neurologic impairment. Supportive treatment includes management of complications, antibiotic therapy for infections, nutritional measures and supplementation with calcium and vitamin D. 1 Genetic counseling is important. Antenatal diagnosis in families with MIOP may be possible using radiographs, thus allowing haematopoietic stem cell transplantation before the age of 3 months with the aim of improving neurological outcomes.…”

Hearing Loss in Malignant Infantile Osteopetrosis: A Case-Based Review

“…This results in excessive deposition of immature bone, thickening of the cortical bones, and failure of the outgrowth of spaces in the cranial vault. [1][2][3][4][5][6] ETIOLOGY Mutations in many different genes have been identified. Osteopetrosis can be inherited in an autosomal dominant (autosomal dominant osteopetrosis (ADO), osteopetrosis tarda, or the adult type), autosomal recessive (autosomal recessive osteopetrosis (ARO) or malignant infantile type), or X-linked recessive pattern.…”

“…Mutations in other genes (TNFSF11, TNFRSF11A, RANK, and RANKL) accounting for osteoclast differentiation and activation lead to osteoclast-poor ARO, in which no mature osteoclasts are present. 1,2,[5][6][7][8][9] Estimating the overall incidence of osteopetrosis is difficult. Previous literature mentions 1 in 250 000 births for ARO and 1 in 20 000 births for ADO.…”

A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage

“…Excessive skull growth and narrowed cranial foramina result in impingement of cranial nerves, most commonly optic, auditory, and facial nerves, which may lead to blindness, hearing loss, and facial paralysis, respectively. Pancytopenia, recurrent infections, and hepatosplenomegaly occur as a result of bone marrow failure and extramedullary hematopoiesis [3].…”