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 کاملInfantile Malignant Osteopetrosis: Delay in Diagnosis Eliminates Chance of Cure.
A 4.5 year-old girl presented with abdominal distention, failure to thrive, visual and hearing loss. In her medical history there was meningitis in the neonatal period, convulsions, enlargement of her head, nistagmus and exophtalmus at the tenth month. When she was 15 month-old, she had ventriculoperitoneal shunt and surgical transection of the filum terminale due to tethered cord. When she was...
متن کاملMalignant 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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ژورنال
عنوان ژورنال: Reproductive BioMedicine Online
سال: 2009
ISSN: 1472-6483
DOI: 10.1016/s1472-6483(10)61242-4