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 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 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...
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 کاملCranial CT of autosomal recessive osteopetrosis.
Eight infants with radiographic and bone biopsy evidence of autosomal recessive osteopetrosis were evaluated by cranial CT. The clinical presentations and CT characteristics support the theory that this disorder exhibits severe and mild variants. At an early stage the severe variant demonstrates small optic canals, small orbits with proptosis, and a small nasoethmoid complex without significant...
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ژورنال
عنوان ژورنال: Pediatric Radiology
سال: 2008
ISSN: 0301-0449,1432-1998
DOI: 10.1007/s00247-008-1085-5