Malignant infantile osteopetrosis (MIOP) is a rare autosomal recessive disorder of bone resorption characterized by early bone marrow failure, proneness to fractures, and visual deterioration, variably associated with impairments of other cranial nerves due to narrowing of skull base foramina. About 10% of patients with MIOP show severe neurological involvement, which contraindicates bone marrow transplantation. We report on a 12-month-old female with recessive OSMT1 mutations and neuroimaging findings suggesting a neurodegenerative storage disorder. © Georg Thieme Verlag KG Stuttgart.
Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations
Morana G.;
2007-01-01
Abstract
Malignant infantile osteopetrosis (MIOP) is a rare autosomal recessive disorder of bone resorption characterized by early bone marrow failure, proneness to fractures, and visual deterioration, variably associated with impairments of other cranial nerves due to narrowing of skull base foramina. About 10% of patients with MIOP show severe neurological involvement, which contraindicates bone marrow transplantation. We report on a 12-month-old female with recessive OSMT1 mutations and neuroimaging findings suggesting a neurodegenerative storage disorder. © Georg Thieme Verlag KG Stuttgart.
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