Radiologic resolution of malignant infantile osteopetrosis skeletal changes following hematopoietic stem cell transplantation

  title={Radiologic resolution of malignant infantile osteopetrosis skeletal changes following hematopoietic stem cell transplantation},
  author={Amir Pejman Hashemi Taheri and Amir Reza Radmard and Soheil Kooraki and Maryam Behfar and Neda Pak and Amir Ali Hamidieh and Ardeshir Ghavamzadeh},
  journal={Pediatric Blood \& Cancer},
Hematopoietic stem cell transplantation (HSCT) is the only known curative treatment of malignant infantile osteopetrosis (MIOP). In this study, short‐term serial bone surveys were used to assess radiologic evolution of skeletal changes after HSCT in MIOP. 

How we approach malignant infantile osteopetrosis

In this review, the clinical management of patients with MIOP is discussed, including diagnosis, preparation for HSCT and special transplant considerations, management of unique HSCT complications, and long‐term follow-up.

Skeletal radiology following hematopoietic stem cell transplantation in infantile osteopetrosis: an overlooked assessment tool.

This study underscores the importance of both early diagnosis and multidisciplinary approach for management, which is especially relevant for rare diseases like malignant infantile osteopetrosis that usually has a fatal course in case of no or delayed treatment.

Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds

To evaluate radiological findings in a cohort of 22 patients with infantile malignant osteopetrosis in order to establish the correlation between radiological findings and different genetic

Skeletal Changes After Hematopoietic Stem Cell Transplantation in Osteopetrosis

It is proposed that biochemical bone metabolism markers and radiological indices be routinely used to evaluate response to hematopoietic stem cell transplantation in patients with osteopetrosis.

Hematopoietic Stem Cell Transplantation: A Neonatal Perspective.

The principles of HSCT in the very young are detailed, the current status of transplantation for relevant disorders of infancy is described, and a glimpse into future efforts at improving on current success are provided.

Malignant infantile osteopetrosis in a child with apallic syndrome

Malignant infantile osteopetrosis in a child with apallic syndrome O.I. Sheremet, O.A. Petronchak, Yu.S.

β3-Adrenoreceptors as ROS Balancer in Hematopoietic Stem Cell Transplantation

The current state of knowledge about the role of β3-adrenoreceptors (β3-ARs) in regulating HSCs redox homeostasis is summarized to highlight the importance of controlling reactive oxygen species levels in regulating hematopoietic stem cell differentiation.

Indications for haematopoietic stem cell transplantation for haematological diseases, solid tumours and immune disorders: current practice in Europe, 2019

An updated report with operating definitions, revised indications and an additional set of data with overall survival at 1 year and non-relapse mortality at day 100 after transplant in the commonest standard-of-care indications is presented.



Imaging of malignant infantile osteopetrosis before and after bone marrow transplantation

Investigation of the radiological findings at presentation and follow-up in children undergoing bone marrow transplantation (BMT) for MIOP found improvement was apparent within 2 months of successful engraftment with almost complete resolution of abnormalities after 1 year.

Hematopoietic stem cell transplantation for osteopetrosis.

  • C. Steward
  • Medicine
    Pediatric clinics of North America
  • 2010

Hematopoietic stem cell transplantation for infantile osteopetrosis

It is recommended early referral for consideration of HCT with a related or unrelated donor as neurosensory manifestations of osteopetrosis are generally not reversible and donor engraftment may be easier to achieve early in the course of the disease.

Successful unrelated mismatched cord blood transplantation in a child with malignant infantile osteopetrosis

A case of successful engraftment and stable full‐donor chimerism in a patient with MIOP who underwent unrelated donor cord blood transplantation (CBT) suggests that unrelated donor CBT may be a feasible option in case of unavailability of a fully HLA‐matched related or unrelated donor.

Bone Marrow Transplantation for Infantile Malignant Osteopetrosis

BMT offers cure to patients with malignant osteopetrosis with reconstitution of bone marrow and correction of metabolic disturbances with reversibility in neurosensory deficit when BMT is done at an early age.

Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report

HSCT is the only curative treatment for autosomal recessive osteopetrosis and should be offered as early as possible in children transplanted before the age of 3 months.

Towards a better understanding and new therapeutics of osteopetrosis

HSC‐targeted gene therapy in a mouse model of infantile malignant osteopetrosis was recently shown to correct many aspects of the disease and opens up the possibility for gene replacement therapy as an alternative.

Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor

RANKL-dependent patients, in particular, represent an interesting subset which could benefit from mesenchymal cell transplant and/or administration of soluble RANKL cytokine, as expected from biochemical, cellular, and animal studies.


The results show that despite histocompatibility matching and methotrexate therapy, GVHD remains a serious and often fatal complication of marrow transplantation.