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DOI: 10.1055/s-2007-990267
© Georg Thieme Verlag KG Stuttgart · New York
Neuroimaging Findings in Malignant Infantile Osteopetrosis due to OSTM1 Mutations
Publication History
received 16. 03. 2007
accepted 21. 08. 2007
Publication Date:
05 November 2007 (online)
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.
Key words
osteopetrosis - ceroid lipofuscinosis - neurodegeneration
References
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Correspondence
A. Rossi
Department of Neuroradiology
G.Gaslini Institute
Largo G. Gaslini 5
16147 Genoa
Italy
Phone: +39/010/563 66 18
Fax: +39/010/377 97 98
Email: andrearossi@ospedale-gaslini.ge.it