Juvenile Metachromatic Leukodystrophy: Understanding the Disease and Implications for Nursing Care

Abstract

Hematopoietic stem cell transplants are increasingly being performed in attempt to halt the progression of juvenile metachromatic leukodystrophy, which is a rare neurodegenerative disease. Children who are diagnosed with metachromatic leukodystrophy are not commonly cared for by nurses who specialize in pediatric stem cell transplants. This article provides nurses with insight about this disease and serves as a guide for nursing care of this patient population during hematopoietic stem cell transplant. The case study highlights the complexities of care of this population while illustrating many of the unique care needs of patients with metachromatic leukodys-trophy undergoing hematopoietic stem cell transplant. The article provides information about the pathophysiology of metachromatic leukodystrophy, the natural progression of symptoms, and how hematopoietic stem cell transplant may work to halt the progression of juvenile metachromatic leukodys-trophy. It also focuses on the implications of nursing care, including a review of systems, the need for increased patient and family education, and the complexities of caring for a family with multiple affected children.

Keywords

hematopoietic stem cell transplant juvenile metachromatic leukodystrophy

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References

Gordy, C. (1999). Children with sickle cell anemia and orthopaedic problems. Orthopaedic Nursing, 18(3), 29-34.

Heiney, S. P. , Neuberg, R. W. , Myers, D. , & Bergman, L. H. (1994). The aftermath of bone marrow transplant for parents and pediatric patients: A posttraumatic stress disorder. Oncology Nursing Forum, 11(1), 51-58.

Kapaun, P. , Dittmann, R. , Granitzny, B. , Eickhoff, W. , Wulbrand, H. , Neumaier-Probst, E. , et al. (1999). Slow progression of juvenile metachromatic leukodystrophy 6 years after bone marrow transplant. Journal of Child Neurology, 14, 222-228.

Kelly, K. , & Porock, D. (2005). A survey of pediatric oncology nurses’ perceptions of parental educational needs. Journal of Pediatric Oncology Nursing, 22(1), 58-66.

Kidd, D. , Nelson, J. , Jones, F. , Dusoir, H. , Wall, I. , McKinstry, S. , et al. (1998). Long-term stabilization after bone marrow transplantation in juvenile metachromatic leukodystrophy. Neurology, 55(1), 98-99.

Krivit, W. (2004). Allogenic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. Springer Seminars Immunopathology, 26, 119-132.

Krivit, W. , Peter, C. , & Shapiro, E. (1999). Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Current Opinion in Neurology, 12, 167-176.

Navarro, C. , Fernandez, J. M. , Dominguez, C. , Fachal, C. , & Alvarez, M. (1996). Late juvenile metachromatic leukodys-trophy treated with bone marrow transplantation: A 4-year follow-up study. Neurology, 46, 254-256.

Peters, C. , & Stewards, C. G. (2003). Hematopoietic cell transplantation for inherited metabolic diseases: An overview of outcomes and practice guidelines. Bone Marrow Transplantation, 31, 229-239.

10.

Proia, R. L. , & Wu, Y. P. (2004). Blood to brain to the rescue. Journal of Clinical Investigation, 113, 1108-1110.