Nursing Care Plan for a Child Diagnosed with Lathosterolosis

Lathosterolosis is a very rare autosomal recessive cholesterol metabolism disorder. The disease manifests itself with developmental and mental delays, learning disabilities, microcephaly, facial dysmorphism, bilateral cataracts, and skeletal defects. It is caused by the deficiency of the enzyme sterol-C5-desaturase, which is involved in cholesterol biosynthesis. This deficiency prevents the synthesis of cholesterol, which acts as a precursor for lipid, bile acids, and steroid hormones. Until 2020, only 7 cases had been reported. In this case report, it was aimed to plan and implement the nursing care of a 2-year-old boy diagnosed with lathosterolosis with the diagnoses of the North American Nursing Diagnostic Association (NANDA).