TITLE:
Nursing Care Plan for a Child Diagnosed with Lathosterolosis
AUTHORS:
Aslıhan Hacısalıhoglu, Senay Cetinkaya
KEYWORDS:
Lathosterolosis, Cholesterol Metabolism, Nursing Care Plan
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.13 No.3,
May
11,
2023
ABSTRACT: 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).