title: 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 leukodystrophy 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 leukodystrophy. 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.
authors.affiliation: Pediatric Blood and Marrow Transplantation department, Morgan Stanley Children's Hospital of New York-Presbyterian/Columbia University, New York, USA. barrellc@yahoo.com
authors.forename: Catherine
authors.initials: C
authors.lastname: Barrell
mesh_terms: D001192:Arylsulfatases / Q000097:blood; D002648:Child; D002653:Child Behavior Disorders / Q000209:etiology; D003937:Diagnosis, Differential; D018450:Disease Progression; D006301:Health Services Needs and Demand; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods / Q000451:nursing; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology / Q000628:therapy*; D008279:Magnetic Resonance Imaging; D008297:Male; D024802:Nurse's Role; D009730:Nursing Assessment; D010290:Parents / Q000193:education / Q000523:psychology; D010347:Patient Care Planning; D010353:Patient Education as Topic; D010371:Pediatric Nursing / Q000458:organization & administration*; D035583:Rare Diseases; D013433:Sulfoglycosphingolipids / Q000652:urine
chemical_list: D013433:Sulfoglycosphingolipids; D001192:Arylsulfatases