Case Report
Volume 11 Issue 4 - 2020
Successful Allogenic Hematopoietic Stem Cell Transplantation for Infantile Osteopetrosis: A Case Report
Raed Alzyoud1*, Mohammad Wahadneh2, Omar Wahadneh2, Motasem AlSuweiti1, Hiba Maitah1, Boshra Adayleh1, Mohammed Alnoubani1 and Adel Alwahadneh1
1Immunology, Allergy, and Bone Marrow Transplantation Unit for Primary Immunodeficiency Disorders, Queen Rania Children’s Hospital, Amman, Jordan
2Externship Physician, Queen Rania Children’s Hospital, Amman, Jordan
*Corresponding Author: Raed Alzyoud, Chief of Pediatric Immunology, Allergy, and Rheumatology Division at Queen Rania Children’s Hospital, Amman, Jordan.
Received: February 16, 2020; Published: March 27, 2020


Osteopetrosis is an inherited bone disease, has different types of inheritance with variable phenotypes, characterized by increased bone mass and defective bone resorption can affect the bone marrow activity leading to suppressed hematopoiesis presenting in the form of anemia and reduced platelet numbers and white blood cells thus increasing risk of bleeding and immunodeficiency. Severe infantile form is presenting at birth or in the first few months, is usually fatal and the infants rarely survive beyond the second year of life, due to bone marrow failure and recurrent infections, this form can be cured by Hematopoietic stem cell transplantation (HSCT). We report an infant who had diagnosed during infancy and underwent HSCT, describing transplant details, complications and challenges.

Keywords: Hematopoietic Stem Cell Transplantation (HSCT); Osteopetrosis; Bone Resorption


  1. Teti A and Econs MJ. “Osteopetroses, emphasizing potential approaches to treatment”. Bone 102 (2017): 50-59.
  2. Blair HC and Athanasou N. “Recent advances in osteoclast biology and pathological bone resorption”. Histology and Histopathology 19.1 (2004): 189-199.
  3. Del Fattore A., et al. “Genetics, pathogenesis and complications of osteopetrosis”. Bone 42.1 (2008): 19-29.
  4. Helfrich MH. “Osteoclast diseases”. Microscopy Research and Technique 61.6 (2003): 514-532.
  5. Dahl N., et al. “Fracture patterns in malignant osteopetrosis (Albers-Schönberg disease)”. Archives of Orthopaedic and Trauma Surgery 111.2 (1992): 121-123.
  6. Cao W., et al. “Comparison of Optic Canal Diameter in Children with Malignant Infantile Osteopetrosis and Normal Children and the Effects of Hematopoietic Stem Cell Transplantation on the Optic Canal Diameter”. Journal of Pediatric Ophthalmology and Strabismus 56.1 (2019): 35-42.
  7. Chavez-Guitron LE., et al. “Autosomal recessive osteopetrosis type I: description of pathogenic variant of TCIRG1 gene”. Boletin Medico del Hospital Infantil de Mexico 75.4 (2018): 255-259.
  8. Stark Z and Savarirayan R. “Osteopetrosis”. Orphanet Journal of Rare Diseases 4 (2009): 5.
  9. Sit C., et al. “Osteopetrosis: radiological and radionuclide imaging”. Indian Journal of Nuclear Medicine 30.1 (2015): 55-58.
  10. Tolar J., et al. “Engraftment and survival following hematopoietic stem cell transplantation for osteopetrosis using a reduced intensity conditioning regimen”. Bone Marrow Transplant 38.12 (2006): 783-787.
  11. Buchbinder D., et al. “Successful cord blood transplantation in a patient with malignant infantile osteopetrosis and hemophilia”. Pediatric Transplantation 17.1 (2013): E20-E24.
  12. Maximova N., et al. “Hematopoietic stem cell transplantation-induced bone remodeling in autosomal recessive osteopetrosis: Interaction between skeleton and hematopoietic and sensory nervous systems”. Bone 130 (2020): 115144.
  13. Steward CG. “Hematopoietic stem cell transplantation for osteopetrosis”. Pediatric Clinics of North America 57.1 (2010): 171-180.
  14. Schneider GB., et al. “Pluripotent hemopoietic stem cells give rise to osteoclasts”. American Journal of Anatomy 177.4 (1986): 505-511.
  15. Kulpiya A., et al. “Hypercalcemia and altered biochemical bone markers in post‐bone marrow transplantation osteopetrosis: A case report and literature review”. Pediatric Transplantation 16.5 (2012): E140-E145.
  16. Martinez C., et al. “Characterization and management of hypercalcemia following transplantation for osteopetrosis”. Bone Marrow Transplantation 45.5 (2010): 939-944.
  17. Mazzolari E., et al. “A single‐center experience in 20 patients with infantile malignant osteopetrosis”. American Journal of Hematology 84.8 (2009): 473-479.
  18. Driessen G., et al. “Long-term outcome of hematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report”. Bone Marrow Transplantation 32.7 (2003): 657-663.
  19. Martinez C., et al. “Characterization and management of hypercalcemia following transplantation for osteopetrosis”. Bone Marrow Transplant 45.5 (2010): 939-944.
  20. Rawlinson P., et al. “Malignant osteopetrosis: hypercalcaemia after bone marrow transplantation”. Archives of Disease in Childhood 66.5 (1991): 638-639.
Citation: Raed Alzyoud., et al. “Successful Allogenic Hematopoietic Stem Cell Transplantation for Infantile Osteopetrosis: A Case Report”. EC Orthopaedics 11.4 (2020): 107-110.

PubMed Indexed Article

EC Pharmacology and Toxicology
LC-UV-MS and MS/MS Characterize Glutathione Reactivity with Different Isomers (2,2' and 2,4' vs. 4,4') of Methylene Diphenyl-Diisocyanate.

PMID: 31143884 [PubMed]

PMCID: PMC6536005

EC Pharmacology and Toxicology
Alzheimer's Pathogenesis, Metal-Mediated Redox Stress, and Potential Nanotheranostics.

PMID: 31565701 [PubMed]

PMCID: PMC6764777

EC Neurology
Differences in Rate of Cognitive Decline and Caregiver Burden between Alzheimer's Disease and Vascular Dementia: a Retrospective Study.

PMID: 27747317 [PubMed]

PMCID: PMC5065347

EC Pharmacology and Toxicology
Will Blockchain Technology Transform Healthcare and Biomedical Sciences?

PMID: 31460519 [PubMed]

PMCID: PMC6711478

EC Pharmacology and Toxicology
Is it a Prime Time for AI-powered Virtual Drug Screening?

PMID: 30215059 [PubMed]

PMCID: PMC6133253

EC Psychology and Psychiatry
Analysis of Evidence for the Combination of Pro-dopamine Regulator (KB220PAM) and Naltrexone to Prevent Opioid Use Disorder Relapse.

PMID: 30417173 [PubMed]

PMCID: PMC6226033

EC Anaesthesia
Arrest Under Anesthesia - What was the Culprit? A Case Report.

PMID: 30264037 [PubMed]

PMCID: PMC6155992

EC Orthopaedics
Distraction Implantation. A New Technique in Total Joint Arthroplasty and Direct Skeletal Attachment.

PMID: 30198026 [PubMed]

PMCID: PMC6124505

EC Pulmonology and Respiratory Medicine
Prevalence and factors associated with self-reported chronic obstructive pulmonary disease among adults aged 40-79: the National Health and Nutrition Examination Survey (NHANES) 2007-2012.

PMID: 30294723 [PubMed]

PMCID: PMC6169793

EC Dental Science
Important Dental Fiber-Reinforced Composite Molding Compound Breakthroughs

PMID: 29285526 [PubMed]

PMCID: PMC5743211

EC Microbiology
Prevalence of Intestinal Parasites Among HIV Infected and HIV Uninfected Patients Treated at the 1o De Maio Health Centre in Maputo, Mozambique

PMID: 29911204 [PubMed]

PMCID: PMC5999047

EC Microbiology
Macrophages and the Viral Dissemination Super Highway

PMID: 26949751 [PubMed]

PMCID: PMC4774560

EC Microbiology
The Microbiome, Antibiotics, and Health of the Pediatric Population.

PMID: 27390782 [PubMed]

PMCID: PMC4933318

EC Microbiology
Reactive Oxygen Species in HIV Infection

PMID: 28580453 [PubMed]

PMCID: PMC5450819

EC Microbiology
A Review of the CD4 T Cell Contribution to Lung Infection, Inflammation and Repair with a Focus on Wheeze and Asthma in the Pediatric Population

PMID: 26280024 [PubMed]

PMCID: PMC4533840

EC Neurology
Identifying Key Symptoms Differentiating Myalgic Encephalomyelitis and Chronic Fatigue Syndrome from Multiple Sclerosis

PMID: 28066845 [PubMed]

PMCID: PMC5214344

EC Pharmacology and Toxicology
Paradigm Shift is the Normal State of Pharmacology

PMID: 28936490 [PubMed]

PMCID: PMC5604476

EC Neurology
Examining those Meeting IOM Criteria Versus IOM Plus Fibromyalgia

PMID: 28713879 [PubMed]

PMCID: PMC5510658

EC Neurology
Unilateral Frontosphenoid Craniosynostosis: Case Report and a Review of the Literature

PMID: 28133641 [PubMed]

PMCID: PMC5267489

EC Ophthalmology
OCT-Angiography for Non-Invasive Monitoring of Neuronal and Vascular Structure in Mouse Retina: Implication for Characterization of Retinal Neurovascular Coupling

PMID: 29333536 [PubMed]

PMCID: PMC5766278

EC Neurology
Longer Duration of Downslope Treadmill Walking Induces Depression of H-Reflexes Measured during Standing and Walking.

PMID: 31032493 [PubMed]

PMCID: PMC6483108

EC Microbiology
Onchocerciasis in Mozambique: An Unknown Condition for Health Professionals.

PMID: 30957099 [PubMed]

PMCID: PMC6448571

EC Nutrition
Food Insecurity among Households with and without Podoconiosis in East and West Gojjam, Ethiopia.

PMID: 30101228 [PubMed]

PMCID: PMC6086333

EC Ophthalmology
REVIEW. +2 to +3 D. Reading Glasses to Prevent Myopia.

PMID: 31080964 [PubMed]

PMCID: PMC6508883

EC Gynaecology
Biomechanical Mapping of the Female Pelvic Floor: Uterine Prolapse Versus Normal Conditions.

PMID: 31093608 [PubMed]

PMCID: PMC6513001

EC Dental Science
Fiber-Reinforced Composites: A Breakthrough in Practical Clinical Applications with Advanced Wear Resistance for Dental Materials.

PMID: 31552397 [PubMed]

PMCID: PMC6758937

EC Microbiology
Neurocysticercosis in Child Bearing Women: An Overlooked Condition in Mozambique and a Potentially Missed Diagnosis in Women Presenting with Eclampsia.

PMID: 31681909 [PubMed]

PMCID: PMC6824723

EC Microbiology
Molecular Detection of Leptospira spp. in Rodents Trapped in the Mozambique Island City, Nampula Province, Mozambique.

PMID: 31681910 [PubMed]

PMCID: PMC6824726

EC Neurology
Endoplasmic Reticulum-Mitochondrial Cross-Talk in Neurodegenerative and Eye Diseases.

PMID: 31528859 [PubMed]

PMCID: PMC6746603

EC Psychology and Psychiatry
Can Chronic Consumption of Caffeine by Increasing D2/D3 Receptors Offer Benefit to Carriers of the DRD2 A1 Allele in Cocaine Abuse?

PMID: 31276119 [PubMed]

PMCID: PMC6604646

EC Anaesthesia
Real Time Locating Systems and sustainability of Perioperative Efficiency of Anesthesiologists.

PMID: 31406965 [PubMed]

PMCID: PMC6690616

EC Pharmacology and Toxicology
A Pilot STEM Curriculum Designed to Teach High School Students Concepts in Biochemical Engineering and Pharmacology.

PMID: 31517314 [PubMed]

PMCID: PMC6741290

EC Pharmacology and Toxicology
Toxic Mechanisms Underlying Motor Activity Changes Induced by a Mixture of Lead, Arsenic and Manganese.

PMID: 31633124 [PubMed]

PMCID: PMC6800226

EC Neurology
Research Volunteers' Attitudes Toward Chronic Fatigue Syndrome and Myalgic Encephalomyelitis.

PMID: 29662969 [PubMed]

PMCID: PMC5898812

EC Pharmacology and Toxicology
Hyperbaric Oxygen Therapy for Alzheimer's Disease.

PMID: 30215058 [PubMed]

PMCID: PMC6133268

News and Events

November Issue Release

We always feel pleasure to share our updates with you all. Here, notifying you that we have successfully released the November issue of respective journals and the latest articles can be viewed on the current issue pages.

Submission Deadline for Upcoming Issue

ECronicon delightfully welcomes all the authors around the globe for effective collaboration with an article submission for the upcoming issue of respective journals. Submissions are accepted on/before December 09, 2022.

Certificate of Publication

ECronicon honors with a "Publication Certificate" to the corresponding author by including the names of co-authors as a token of appreciation for publishing the work with our respective journals.

Best Article of the Issue

Editors of respective journals will always be very much interested in electing one Best Article after each issue release. The authors of the selected article will be honored with a "Best Article of the Issue" certificate.

Certifying for Review

ECronicon certifies the Editors for their first review done towards the assigned article of the respective journals.

Latest Articles

The latest articles will be updated immediately on the articles in press page of the respective journals.