Neuropediatrics 2007; 38(3): 154-156
DOI: 10.1055/s-2007-990267
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Neuroimaging Findings in Malignant Infantile Osteopetrosis due to OSTM1 Mutations

D. Castellano Chiodo 1,2 , M. DiRocco 3 , C. Gandolfo 1 , G. Morana 1 , D. Buzzi 3 , A. Rossi 1
  • 1Department of Neuroradiology, G. Gaslini Children's Hospital, Genoa, Italy
  • 2Department of Pediatrics, University of Catania, Catania, Italy
  • 32nd Division of Pediatrics, G. Gaslini Children's Hospital, Genoa, Italy
Further Information

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.

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

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