منابع مشابه
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...
متن کاملA Novel Mutation in SNX10 Gene Causes Malignant Infantile Osteopetrosis
BACKGROUND Osteopetrosis is a group of genetically heterogonous diseases and the main feature of that is increased bone density due to osteoclast's abnormality. It has three clinical forms based on inheritance pattern, severity and age of onset: the dominant benign form (ADO), the intermediate form (IRO) and the recessive severe form (ARO). One of the recently discovered genes for ARO form is S...
متن کاملMalignant 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...
متن کاملMalignant osteopetrosis: hypercalcaemia after bone marrow transplantation
Discussion In this case engraftment was followed by a rapid rise in the calcium concentration, and hypercalcaemia recurred on a number of occasions. A management plan to control the serum calcium concentration during these acute phases and to maintain long term normocalcaemia evolved with experience. In the acute phase the hypercalcaemia seemed to be controlled primarily by a combination of reh...
متن کاملMalignant infantile osteopetrosis: otolaryngological complications and management.
OBJECTIVES To inform otolaryngologists about upper airway obstruction requiring tracheotomy and other otolaryngological manifestations of malignant infantile osteopetrosis (MIOP) and to discuss pathophysiological features, management, and new treatment strategies in MIOP. DESIGN Ongoing case series combined with a retrospective chart review. SETTING International tertiary pediatric hospital...
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ژورنال
عنوان ژورنال: Paediatrica Indonesiana
سال: 2007
ISSN: 2338-476X,0030-9311
DOI: 10.14238/pi47.5.2007.238-43