Özet:

Niemann-Pick disease is a rare, autosomal recessive lysosomal lipid storage disorder characterized by the accumulation of sphingomyelin and cholesterol in various organs in the body, especially in the reticuloendothelial system and central nervous system. The disease has six different forms including Type A, B, C, D, E and F. With clinical symptoms varying based on the type of the disease, hepatic, neurological and psychiatric fi ndings such as hepatosplenomegaly, recurrent respiratory tract infections, mental retardation, growthdevelopment disorders, spasticity, vision fi ndings, myoclonic seizures and ataxia may be observed. Seven-month old A., who was diagnosed with Niemann-Pick Type C and whose health history was assessed based on Marjory Gordon’s "Functional Health Patterns", is presented as a case study. Standard nursing interventions were performed by making a nursing diagnosis on the child of impaired respiratory function (dysfunctional ventilatory weaning response), delayed growth and development, ineffective protection (impairment in skin integrity), disturbed sleep pattern, ineffective thermoregulation, disorganized infant behaviours, impaired risk in oral mucous membranes, aspiration risk, and by diagnosing the mother with anxiety, hopelessness, and caregiver role strain.

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