Infantile Malignant Osteopetrosis Presenting with Bone-Within-Bone Appearance and Suspected Haematological Malignancy: A Case Report | Chapter 8 | An Overview of Disease and Health Research Vol. 10

 

Background: The radiological sign “bone within a bone” is observed in a variety of conditions, including osteopetrosis. Osteopetrosis, first described by Albers-Schonberg in 1904, is a rare genetic disorder characterised by increased bone density. “Osteopetrosis of infantile origin” is one of its rare and aggressive subtypes, which is inherited as an autosomal recessive trait and often leads to death due to recurrent infections and multi-system involvement.

 

Aim: The study aims to focus on a case of malignant form of osteopetrosis with its varied and severe clinical course, prognosis, urgent need for treatment and its likely association with haematological malignancy like lymphoma.

 

Case Presentation: A 2-year-old male child presented with fever, loose stools and gum bleeding for 2 days with regression of milestones. Examination revealed severe malnutrition with significantly enlarged lymph nodes and hepatosplenomegaly. Laboratory investigations showed pancytopenia with atypical cells, deranged renal function, and transaminitis. The pathognomic finding of “bone within a bone” was seen on X-ray. CT scan imaging showed moderate dilatation of the ventricles with thickening of the posterior fossa imitating a mass lesion. The child was provisionally diagnosed with hypothyroidism, osteopetrosis, and possible haematological malignancy. The child succumbed to death due to severe sepsis despite the treatment.

 

Discussion: Increased bone density in osteopetrosis causes encroachment of marrow space, leading to all other consequences. Children diagnosed in early infancy often succumb to death due to severe sepsis. Management of osteopetrosis is usually symptomatic, requiring a multidisciplinary approach. Hematopoietic stem cell transplantation (HSCT) is considered potentially curative in selected autosomal recessive forms with intrinsic osteoclast defects and remains the definitive treatment under research.

 

Conclusion: Malignant infantile osteopetrosis is a rare but fatal condition, and its resemblance to other disease conditions often masks the diagnosis. Creating awareness about osteopetrosis, along with genetic counselling and antenatal diagnosis, plays an important role in managing it. Although rare, its co-existence with lymphoma should always be ruled out.

 

 

Author(s) Details

Monica Jassal
Maharishi Markandeshwar College of Medical Sciences and Research, Sadopur, Ambala, India.

 

Vyas Kumar Rathaur
All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

 

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