Chronic myeloid leukaemia in a child with mucopolysaccharidosis type VI: diagnostic and management challenges

Area of Science:

• Pediatric Hematology Oncology
• Rare Genetic Disorders
• Metabolic Diseases

Background:

• A child presented with symptoms suggestive of both malignancy and a rare genetic disorder.
• Co-occurrence of chronic myeloid leukemia (CML) and mucopolysaccharidosis type VI (MPS VI) presents unique clinical challenges.

Purpose of the Study:

• To report a rare case of concurrent CML and MPS VI in a child.
• To discuss the diagnostic and management complexities arising from these coexisting conditions.
• To emphasize the importance of multidisciplinary care and vigilance in recognizing malignancy in rare genetic disorders.

Main Methods:

• Clinical examination, including assessment of abdominal swelling, pallor, skeletal and facial abnormalities, hepatosplenomegaly, joint stiffness, and cardiac murmurs.
• Diagnostic investigations: hyperleucocytosis with BCR-ABL1 positivity for CML; radiological and echocardiographic findings for MPS VI.
• Therapeutic interventions: hydroxyurea for stabilization, imatinib for CML, and supportive care for MPS VI complications.

Main Results:

• Diagnosis of CML confirmed by BCR-ABL1 positivity.
• Clinical and radiological findings supported MPS VI diagnosis.
• Patient achieved hematological remission with imatinib therapy.
• Multisystem complications of MPS VI were managed supportively.

Conclusions:

• Vigilance is crucial for identifying malignancy in children with rare genetic disorders.
• Limitations in diagnostic testing (urinary glycosaminoglycan, enzyme assays) can occur, especially in low-resource settings.
• Multidisciplinary and individualized care is essential when managing coexisting conditions with potentially interacting treatments.