Lysosomal lipid storage disease, occurs as a result of enzyme deficiency or defect in the transport of lipid molecules. Hepatosplenomegaly, neuromotor developmental delay, cognitive impairment accompanied dementia, dyslipidemia, liver and lung failure, jaundice, growth failure are the main clinical and laboratory characteristics of this group.
Lysosomal lipid storage disease group includes three main diseases:
1. Niemann Pick type A-B due to deficiency of the enzyme sphingomyelinase,
2. Niemann Pick type C depending on the defect in intracellular cholesterol transport,
3. Wolman disease/Cholesterol Ester Storage disease; total deficiency of lysosomal acid lipase leading to Wolman disease and partial deficiency of lysosomal acid lipase reason for cholesterol ester storage disease.
In this review article, we presented symptomatology, diagnosis and treatment information which can be useful for pediatricians. Lysosomal lipid storage disease are rare diseases but in recent years with early diagnosis treatment options have increased. We aimed to build up awereness among general pediatricians about these diseases.
Keywords: Lysosomal lipid storage disease, Niemann Pick type A, B, Niemann Pick type C, Wolman disease, cholesterol ester storage disease
