Clinical features of infantile (malignant) osteopetrosis

E. L. Sahharovskaya; Сахаровская Е. Л.; P. Y. Stepensky; Степенски П. Ю.; L. I. Rheingold; Рейнгольд Л. И.; M. M. Dubrovin; Дубровин М. М.; D. A. Ignatova; Игнатова Д. А.; A. Yu. Shcherbina; Щербина А. Ю.; I. B. Reznik; Резник И. Б.

Clinical features of infantile (malignant) osteopetrosis

Authors: Sahharovskaya E.L.¹, Stepensky P.Y.², Rheingold L.I.², Dubrovin M.M.¹, Ignatova D.A.³, Shcherbina A.Y.¹, Reznik I.B.¹^,2
Affiliations:
1. Federal Research Center of Pediatric Hematology, Oncology and Immunology
2. Hadassah Hebrew University Medical Center
3. Russian Children Clinical Hospital
Issue: No 4 (2010)
Pages: 28-32
Section: RARE DISEASES: DIFFERENTIAL DIAGNOSIS AND THERAPY APPROACHES
Published: 27.11.2010
URL: https://oncohematology.abvpress.ru/ongm/article/view/764
ID: 764

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Abstract

Osteopetrosis (“Marble disease”) – is a group of diseases characterized by inability of osteoclasts to resorb the osteal tissue that leads to increased bone fragility, despite density increase. Analysis of data of 27 patients with infantile (malignant) autosomal recessive osteopetrosis (ARO) (21 boys and 6 girls) allowed to describe and summarize the basic clinical features: hematopoiesis suppression, liver and spleen enlargement, vision and hearing failure, delay of psychomotor development, other neurological symptoms, specific radiological bone changes.