Related Experiment Video
Updated: Mar 20, 2026
Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells
Published on: June 13, 2018
Infantile Malignant Osteopetrosis: Delay in Diagnosis Eliminates Chance of Cure
Insights
Infantile malignant osteopetrosis, a rare bone disorder, presents severe symptoms and complications. Delayed diagnosis prevented bone marrow transplantation, highlighting the need for early detection in affected children.
Area of Science:
- Pediatric Hematology
- Pediatric Neurology
- Skeletal Dysplasias
Background:
- Infantile malignant osteopetrosis is a rare genetic disorder characterized by impaired osteoclast function, leading to bone sclerosis.
- The patient presented with a complex medical history including meningitis, hydrocephalus, and tethered cord syndrome, complicating the diagnostic pathway.
Purpose of the Study:
- To report a challenging case of infantile malignant osteopetrosis with significant neurological and developmental comorbidities.
- To highlight the diagnostic delays and their impact on treatment options, specifically bone marrow transplantation.
Main Methods:
- Clinical case presentation detailing the patient's history, physical examination findings, and diagnostic workup.
- Review of diagnostic imaging (roentgenograms) and bone marrow biopsy results.
Main Results:
- The patient exhibited failure to thrive, hepatosplenomegaly, leukoerythroblastic anemia, thrombocytopenia, and bone sclerosis.
- Diagnosis of infantile malignant osteopetrosis was confirmed, but bone marrow transplantation was not feasible due to irreversible complications and lack of medullary space.
Conclusions:
- Early diagnosis of infantile malignant osteopetrosis is crucial for timely intervention and improved outcomes.
- Multisystemic involvement and diagnostic delays can preclude curative treatments like bone marrow transplantation in severe cases.
Abstract:
A 4.5 year-old girl presented with abdominal distention, failure to thrive, visual and hearing loss. In her medical history there was meningitis in the neonatal period, convulsions, enlargement of her head, nistagmus and exophtalmus at the tenth month. When she was 15 month-old, she had ventriculoperitoneal shunt and surgical transection of the filum terminale due to tethered cord. When she was 3 yearold she had headaches and swallowing difficulties and she underwent suboccipital craniectomi and C1 laminectomi. On admission to our Center she had normal mental and motor development, high arched palate, only three teeth, hepatosplenomegaly, weight and height below 3 percentile, leukoerythroblastic anemia and thrombocytopenia. Roentgenograms of bones showed sclerosis and no medullary tissue could be obtained in bone marrow biopsy. Diagnosis was infantile malignant osteopetrosis but the patient can not be referred to bone marrow transplantation due to delay in diagnosis and irreversible visual and hearing loss and lack of medullary space for marrow engraftment.
Related Concept Videos
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:20Inborn Errors of Metabolism
01:29Bone Disorders
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
02:07Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...