Malignant Infantile Osteopetrosis: A Case Report

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A Case Report of Malignant Infantile Osteopetrosis

BACKGROUND Malignant infantile osteopetrosis (MIOP) presents early in life with extreme sclerosis of the skeleton and reduction of bone marrow spaces. Since there is a defect in the bone marrow, the disease can cause anemia, extramedullary hematopoiesis secondary to anemia leading to hepatosplenomegaly, cranial nerves compression and severe growth failure. This disorder is often lethal within t...

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Malignant infantile osteopetrosis: case report with review of literature

Malignant Infantile Osteopetrosis (MIOP) is a rare genetic disorder due to osteoclast abnormal activity. We report a thirteen month-old male patient, diagnosed as MIOP while investigating the cause of hepatosplenomegaly associated with hydrocephalus. His medical history revealed non consanguineous parents and one brother's death at the same age of unknown etiology (similar symptoms). Systemic e...

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Infantile or malignant osteopetrosis: case report of two siblings.

Infantile or Malignant osteopetrosis is a rare congenital disorder of bone resorption. It is caused by failure of osteoclasts to reabsorb immature bone. Severe infantile or malignant osteopetrosis present at birth or develops within the first few months of life. We are reporting here a case of two siblings with malignant osteopetrosis. Prominent clinical features included marked pallor, noisy r...

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Malignant infantile osteopetrosis: dental effects in paediatric patients. Case reports.

AIM Malignant Infantile Osteopetrosis is a hereditary pathology caused due to osteoclastic cells which are incapable of carrying out their functions and hence do not resorb osseous tissue where required. Thus the consequence is that during growth phase, the medullary cavities and nervous tissue cavities do not undergo sufficient growth and the corresponding organs do not develop adequately. The...

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Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia.

Presentation characteristics were reviewed in 14 children from 12 families with malignant infantile osteopetrosis seen at two large referral centres for bone marrow transplantation. Children from six of these families presented initially with symptoms of hypocalcaemia. These comprised early or late neonatal convulsions in six cases (corrected serum calcium < 1.5 mmol/l), and vomiting and irrita...

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ژورنال

عنوان ژورنال: Cureus

سال: 2020

ISSN: 2168-8184

DOI: 10.7759/cureus.6725