Haematopoietic stem cell transplant in a case of mucopolysaccharidosis IV with Fanconi anaemia and bone marrow failure.
Swetlana Mukherjee, Garima Nirmal, Vaibhav Chadha et al.
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Case in brief
A child diagnosed with mucopolysaccharidosis type IV and Fanconi anaemia presented with bone marrow failure requiring haematopoietic stem cell transplantation. The patient underwent HSCT using a non-myeloablative conditioning regimen, which was tailored to optimize engraftment while minimizing toxicity. The case illustrates the successful management of these overlapping genetic disorders through careful planning and a multidisciplinary approach.
Diagnostic / clinical pearl
Clinicians should consider the complexities of managing patients with overlapping genetic conditions when planning haematopoietic stem cell transplantation, emphasizing the need for individualized treatment strategies.
Why it matters
This case underscores the importance of multidisciplinary collaboration in achieving favorable outcomes in patients with rare and complex genetic disorders requiring HSCT.